Genetic epidemiology in aging research

Journals of Gerontology - Series A Biological Sciences and Medical Sciences

Volumn 64, Issue 1, 2009, Pages 47-60

  Fallin, M Daniele ^a,b   Matteini, Amy ^a,b  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Aging; Epidemiology; Genetics

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; CYCLIN DEPENDENT KINASE INHIBITOR 2B; CYTOSINE; DIPEPTIDYL CARBOXYPEPTIDASE; DNA; HISTONE; MITOCHONDRIAL DNA; TELOMERASE;

ACETYLATION; AGING; ALZHEIMER DISEASE; CEREBROVASCULAR DISEASE; CHROMOSOME 9Q; CORONARY ARTERY DISEASE; DNA DAMAGE; DNA METHYLATION; DOUBLE STRANDED DNA BREAK; DYNAMOMETER; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC EPIGENESIS; GENETIC MARKER; GENETIC POLYMORPHISM; GENETIC TRAIT; GENOMIC INSTABILITY; GENOTYPE; GERIATRICS; HEART INFARCTION; HUMAN; HUMAN GENOME; INDEL MUTATION; ISCHEMIC HEART DISEASE; MEASUREMENT ERROR; MONOZYGOTIC TWINS; NON INSULIN DEPENDENT DIABETES MELLITUS; OXIDATIVE STRESS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN METHYLATION; PROTEIN PHOSPHORYLATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRANDED DNA BREAK; SOMATIC MUTATION; STROKE; TELOMERE; EPIDEMIOLOGY; GENETICS; LONGEVITY; MEDICAL RESEARCH; METHODOLOGY; PHENOTYPE;

AGING; BIAS (EPIDEMIOLOGY); BIOMEDICAL RESEARCH; HUMANS; LONGEVITY; PHENOTYPE;

EID: 64249113590     PISSN: 10795006     EISSN: None     Source Type: Journal    
DOI: 10.1093/gerona/gln021     Document Type: Review

References (239)

1. Melzer D, Hurst AJ, Frayling T. Genetic variation and human aging: progress and prospects. J Gerontol A Biol Sci Med Sci. 2007;62:301-307. (Pubitemid 47065728)
2. Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293-298. (Pubitemid 40852699)
3. Chen L, Lee L, Kudlow BA, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003;362:440-445. (Pubitemid 36999707)
4. Yu CE, Oshima J, Fu YH, et al. Positional cloning of the Werner's syndrome gene. Science. 1996;272:258-262. (Pubitemid 26119137)
5. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 1995;375:754-760.
6. Tanzi RE, Vaula G, Romano DM, et al. Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases. Am J Hum Genet. 1992;51:273-282.
7. Kamino K, Orr HT, Payami H, et al. Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet. 1992;51:998-1014.
8. Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 1991;349:704-706. (Pubitemid 21912142)
9. Leroy E, Boyer R, Polymeropoulos MH. Intron-exon structure of ubiquitin c-terminal hydrolase-L1. DNA Res. 1998;5:397-400. (Pubitemid 128670161)
10. Leroy E, Anastasopoulos D, Konitsiotis S, Lavedan C, Polymeropoulos MH. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet. 1998;103:424-427. (Pubitemid 28542952)
11. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998;392:605-608. (Pubitemid 28207717)
12. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997;276:2045-2047. (Pubitemid 27443610)
13. Tonin P, Weber B, Offit K, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med. 1996;2:1179-1183. (Pubitemid 26375392)
14. Neuhausen SL, Mazoyer S, Friedman L, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet. 1996;58:271-280. (Pubitemid 26038932)
15. Simard J, Tonin P, Durocher F, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet. 1994;8:392-398. (Pubitemid 24375607)
16. Gatz M, Reynolds CA, Fratiglioni L, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry. 2006;63:168-174. (Pubitemid 43213878)
17. Page WF, Braun MM, Partin AW, Caporaso N, Walsh P. Heredity and prostate cancer: a study of World War II veteran twins. Prostate. 1997;33:240-245. (Pubitemid 27524702)
18. Singh JP, Larson MG, O'Donnell CJ, et al. Heritability of heart rate variability: the Framingham Heart Study. Circulation. 1999;99:2251-2254. (Pubitemid 29201130)
19. Brown WM, Beck SR, Lange EM, et al. Age-stratified heritability estimation in the Framingham Heart Study families. BMC Genet, (Suppl 1): 2003;4:S32.
20. Pocock NA, Eisman JA, Hopper JL, et al. Genetic determinants of bone mass in adults. A twin study. J Clin Invest. 1987;80:706-710.
21. Lee JH, Flaquer A, Costa R, et al. Genetic influences on life span and survival among elderly African-Americans, Caribbean Hispanics, and Caucasians. Am J Med Genet A. 2004;128:159-164. (Pubitemid 39162939)
22. Yashin AI, Iachine IA, Harris JR. Half of the variation in susceptibility to mortality is genetic: findings from Swedish twin survival data. Behav Genet. 1999;29:11-19.
23. McGue M, Vaupel JW, Holm N, Harvald B. Longevity is moderately heritable in a sample of Danish twins born 1870-1880. J Gerontol. 1993;48:B237-B244.
24. Herskind AM, McGue M, Holm NV, et al. The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-1900. Hum Genet. 1996;97:319-323.
25. Stessman J, Maaravi Y, Hammerman-Rozenberg R, et al. Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study. Mech Ageing Dev. 2005;126:333-339. (Pubitemid 40038354)
26. Davignon J, Bouthillier D, Nestruck AC, Sing CF. Apolipoprotein E polymorphism and atherosclerosis: insight from a study in octogenarians. Trans Am Clin Climatol Assoc. 1987;99:100-110.
27. Blanche H, Cabanne L, Sahbatou M, Thomas G. A study of French centenarians: are ACE and APOE associated with longevity? C R Acad Sci III. 2001;324:129-135. (Pubitemid 33130183)
28. Schachter F, Faure-Delanef L, Guenot F, et al. Genetic associations with human longevity at the APOE and ACE loci. Nat Genet. 1994;6:29-32. (Pubitemid 24191909)
29. Seripa D, Franceschi M, Matera MG, et al. Sex differences in the association of apolipoprotein E and angiotensin-converting enzyme gene polymorphisms with healthy aging and longevity: a population-based study from Southern Italy. J Gerontol A Biol Sci Med Sci. 2006;61:918-923. (Pubitemid 44413930)
30. Louhija J, Miettinen HE, Kontula K, et al. Aging and genetic variation of plasma apolipoproteins. Relative loss of the apolipoprotein E4 phenotype in centenarians. Arterioscler Thromb. 1994;14:1084-1089. (Pubitemid 2111694)
31. Stakias N, Liakos P, Tsiapali E, Goutou M, Koukoulis GN. Lower prevalence of epsilon 4 allele of apolipoprotein E gene in healthy, longer-lived individuals of Hellenic origin. J Gerontol A Biol Sci Med Sci. 2006;61:1228-1231. (Pubitemid 46147778)
32. Zubenko GS, Stiffler JS, Hughes HB, 3rd, Fatigati MJ, Zubenko WN. Genome survey for loci that influence successful aging: sample characterization, method validation, and initial results for the Y chromosome. Am J Geriatr Psychiatry. 2002;10:619-630.
33. Rontu R, Ojala P, Hervonen A, et al. Apolipoprotein E genotype is related to plasma levels of C-reactive protein and lipids and to longevity in nonagenarians. Clin Endocrinol (Oxf). 2006;64:265-270.
34. Wang X, Wang G, Yang C, Li X. Apolipoprotein E gene polymorphism and its association with human longevity in the Uygur nationality in Xinjiang. Chin Med J (Engl). 2001;114:817-820. (Pubitemid 33611937)
35. Vogt MT, Cauley JA, Kuller LH. Apolipoprotein E phenotype, arterial disease, and mortality among older women: the study of osteoporotic fractures. Genet Epidemiol. 1997;14:147-156. (Pubitemid 27176482)
36. Rea IM, Mc Dowell I, McMaster D, et al. Apolipoprotein E alleles in nonagenarian subjects in the Belfast Elderly Longitudinal Free-living Ageing Study (BELFAST). Mech Ageing Dev. 2001;122:1367-1372. (Pubitemid 32721920)
37. Panza F, Solfrizzi V, Torres F, et al. Decreased frequency of apolipoprotein E epsilon4 allele from Northern to Southern Europe in Alzheimer's disease patients and centenarians. Neurosci Lett. 1999;277:53-56.
38. Eggertsen G, Tegelman R, Ericsson S, Angelin B, Berglund L. Apolipoprotein E polymorphism in a healthy Swedish population: variation of allele frequency with age and relation to serum lipid concentrations. Clin Chem. 1993;39:2125-2129. (Pubitemid 23306162)
39. Frisoni GB, Louhija J, Geroldi C, Trabucchi M. Longevity and the epsilon2 allele of apolipoprotein E: the Finnish Centenarians Study. J Gerontol A Biol Sci Med Sci. 2001;56:M75-M78. (Pubitemid 32121420)
40. Cauley JA, Eichner JE, Kamboh MI, Ferrell RE, Kuller LH. Apo E allele frequencies in younger (age 42-50) vs older (age 65-90) women. Genet Epidemiol. 1993;10:27-34.
41. Novelli V, Viviani Anselmi C, Roncarati R, et al. Lack of replication of genetic associations with human longevity. Biogerontology. 2008;9:85-92.
42. Christensen K, Johnson TE, Vaupel JW. The quest for genetic determinants of human longevity: challenges and insights. Nat Rev Genet. 2006;7:436-448. (Pubitemid 43780487)
43. Strain JJ, Dowey L, Ward M, Pentieva K, McNulty H. B-vitamins, homocysteine metabolism and CVD. Proc Nutr Soc. 2004;63:597-603.
44. Cronin S, Furie KL, Kelly PJ. Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis. Stroke. 2005;36:1581-1587. (Pubitemid 40967536)
45. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies. J Thromb Haemost. 2005;3:292-299. (Pubitemid 41623617)
46. Hong X, Hsu YH, Terwedow H, et al. Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women. Bone. 2007;40:737-742. (Pubitemid 46187215)
47. Riancho JA, Valero C, Zarrabeitia MT. MTHFR polymorphism and bone mineral density: meta-analysis of published studies. Calcif Tissue Int. 2006;79:289-293. (Pubitemid 44900151)
48. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17-23. (Pubitemid 46026496)
49. Coppola A, D'Angelo A, Fermo I, et al. Reduced in vivo oxidative stress following 5-methyltetrahydrofolate supplementation in patients with early-onset thrombosis and 677TT methylenetetrahydrofolate reductase genotype. Br J Haematol. 2005;131:100-108. (Pubitemid 43899714)
50. Pastore A, De Angelis S, Casciani S, et al. Effects of folic acid before and after vitamin B12 on plasma homocysteine concentrations in hemodialysis patients with known MTHFR genotypes. Clin Chem. 2006;52:145-148. (Pubitemid 43032479)
51. Kapiszewska M, Kalemba M, Wojciech U, Milewicz T. Uracil misincorporation into DNA of leukocytes of young women with positive folate balance depends on plasma vitamin B12 concentrations and methylenetetrahydrofolate reductase polymorphisms. A pilot study. J Nutr Biochem. 2005;16:467-478. (Pubitemid 41039221)
52. McNulty H, Dowey le RC, Strain JJ, et al. Riboflavin lowers homocysteine in individuals homozygous for the MTHFR 677C->T polymorphism. Circulation. 2006;113:74-80. (Pubitemid 43958491)
53. Forero DA, Pinzon J, Arboleda GH, et al. Analysis of common polymorphisms in angiotensin-converting enzyme and apolipoprotein e genes and human longevity in Colombia. Arch Med Res. 2006;37:890-894. (Pubitemid 44333146)
54. Galinsky D, Tysoe C, Brayne CE, et al. Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity. Atherosclerosis. 1997;129:177-183. (Pubitemid 27135318)
55. Arias-Vasquez A, Sayed-Tabatabaei FA, Schut AF, et al. Angiotensin converting enzyme gene, smoking and mortality in a population-based study. Eur J Clin Invest. 2005;35:444-449. (Pubitemid 40992774)
56. Nacmias B, Bagnoli S, Tedde A, et al. Angiotensin converting enzyme insertion/deletion polymorphism in sporadic and familial Alzheimer's disease and longevity. Arch Gerontol Geriatr. 2007;45:201-206. (Pubitemid 47090190)
57. Panza F, Solfrizzi V, D'Introno A, et al. Angiotensin I converting enzyme (ACE) gene polymorphism in centenarians: different allele frequencies between the North and South of Europe. Exp Gerontol. 2003;38:1015-1020. (Pubitemid 37040803)
58. Zuliani G, Cherubini A, Volpato S, et al. Genetic factors associated with the absence of atherosclerosis in octogenarians. J Gerontol A Biol Sci Med Sci. 2002;57:M611-M615. (Pubitemid 34977770)
59. Hessner MJ, Dinauer DM, Kwiatkowski R, Neri B, Raife TJ. Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors. Clin Chem. 2001;47:1879-1884. (Pubitemid 32881215)
60. Choi YH, Kim JH, Kim DK, et al. Distributions of ACE and APOE polymorphisms and their relations with dementia status in Korean centenarians. J Gerontol A Biol Sci Med Sci. 2003;58:227-231.
61. Bladbjerg EM, Andersen-Ranberg K, de Maat MP, et al. Longevity is independent of common variations in genes associated with cardiovascular risk. Thromb Haemost. 1999;82:1100-1105. (Pubitemid 29419726)
62. Garasto S, Rose G, Derango F, et al. The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. Ann Hum Genet. 2003;67(Pt 1): 54-62. (Pubitemid 38312850)
63. Merched A, Xia Y, Papadopoulou A, Siest G, Visvikis S. Apolipoprotein AIV codon 360 mutation increases with human aging and is not associated with Alzheimer's disease. Neurosci Lett. 1998;242:117-119. (Pubitemid 28083006)
64. De Benedictis G, Falcone E, Rose G, et al. DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus. Hum Genet. 1997;99:312-318. (Pubitemid 27095790)
65. De Benedictis G, Carotenuto L, Carrieri G, et al. Age-related changes of the 3′ APOB-VNTR genotype pool in ageing cohorts. Ann Hum Genet. 1998;62(Pt 2):115-122. (Pubitemid 28412361)
66. Jiang WX, Qiu CC, Cheng ZH, Niu WQ. [Comparative study of APOB gene 3′VNTR polymorphisms between natural longevity and controls in Uighur nationality]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23:523-527.
67. Jiang W, Qiu C, Cheng Z, et al. Correlation between haplotype of apolipoprotein B gene and natural longevity persons in Uygur nationality. Sci China C Life Sci. 2007;50:80-87. (Pubitemid 46318830)
68. Varcasia O, Garasto S, Rizza T, et al. Replication studies in longevity: puzzling findings in Danish centenarians at the 3 APOB-VNTR locus. Ann Hum Genet. 2001;65 (Pt 4):371-376. (Pubitemid 32936693)
69. Anisimov SV, Volkova MV, Lenskaya LV, et al. Age-associated accumulation of the apolipoprotein C-III gene T-455C polymorphism C allele in a Russian population. J Gerontol A Biol Sci Med Sci. 2001;56:B27-B32.
70. Atzmon G, Rincon M, Schechter CB, et al. Lipoprotein genotype and conserved pathway for exceptional longevity in humans. PLoS Biol. 2006;4:e113.
71. Asada T, Yamagata Z, Kinoshita T, et al. Prevalence of dementia and distribution of ApoE alleles in Japanese centenarians: an almos-tcomplete survey in Yamanashi Prefecture, Japan. J Am Geriatr Soc. 1996;44:151-155. (Pubitemid 26050973)
72. Asada T, Kariya T, Yamagata Z, Kinoshita T, Asaka A. Apolipoprotein E allele in centenarians. Neurology. 1996;46:1484.
73. Vergani C, Lucchi T, Caloni M, et al. I405V polymorphism of the cholesteryl ester transfer protein (CETP) gene in young and very old people. Arch Gerontol Geriatr. 2005;43:213-221.
74. Barzilai N, Atzmon G, Schechter C, et al. Unique lipoprotein phenotype and genotype associated with exceptional longevity. Jama. 2003;290:2030-2040. (Pubitemid 37430586)
75. Arai Y, Hirose N, Yamamura K, et al. Deficiency of choresteryl ester transfer protein and gene polymorphisms of lipoprotein lipase and hepatic lipase are not associated with longevity. J Mol Med. 2003;81:102-109. (Pubitemid 36313235)
76. Rodriguez E, Mateo I, Infante J, et al. Cholesteryl ester transfer protein (CETP) polymorphism modifies the Alzheimer's disease risk associated with APOE epsilon4 allele. J Neurol. 2006;253:181-185. (Pubitemid 43255888)
77. Cellini E, Nacmias B, Olivieri F, et al. Cholesteryl ester transfer protein (CETP) I405V polymorphism and longevity in Italian centenarians. Mech Ageing Dev. 2005;126:826-828. (Pubitemid 40693306)
78. Mannucci PM, Mari D, Merati G, et al. Gene Polymorphisms Predicting High Plasma Levels of Coagulation and Fibrinolysis Proteins: A Study in Centenarians. Arterioscler Thromb Vasc Biol. 1997;17:755-759. (Pubitemid 27169139)
79. Reiner AP, Diehr P, Browner WS, et al. Common promoter polymorphisms of inflammation and thrombosis genes and longevity in older adults: the cardiovascular health study. Atherosclerosis. 2005;181: 175-183.
80. Mari D, Mannucci PM, Duca F, Bertolini S, Franceschi C. Mutant factor V (Arg506Gln) in healthy centenarians. Lancet. 1996;347:1044.
81. Kristensen SR, Andersen-Ranberg K, Bathum L, Jeune B. Factor V Leiden and venous thrombosis in Danish centenarians. Thromb Haemost. 1998;80:860-861.
82. Heijmans BT, Westendorp RG, Knook DL, Kluft C, Slagboom PE. The risk of mortality and the factor V Leiden mutation in a population-based cohort. Thromb Haemost. 1998;80:607-609. (Pubitemid 28479348)
83. Faure-Delanef L, Quere I, Zouali H, Cohen D. Human longevity and R506Q factor V gene mutation. Thromb Haemost. 1997;78:1160. (Pubitemid 27417318)
84. Meiklejohn DJ, Riches Z, Youngson N, Vickers MA. The contribution of factor VII gene polymorphisms to longevity in Scottish nonagenarians. Thromb Haemost. 2000;83:519. (Pubitemid 30148379)
85. Tan Q, Yashin AI, Bladbjerg EM, et al. Variations of cardiovascular disease associated genes exhibit sex-dependent influence on human longevity. Exp Gerontol. 2001;36:1303-1315. (Pubitemid 32717077)
86. Kluijtmans LA, Whitehead AS. Reduced frequency of the thermolabile methylenetetrahydrofolate reductase genotype in the elderly. Atherosclerosis. 1999;146:395-397.
87. Heijmans BT, Gussekloo J, Kluft C, et al. Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR). Eur J Hum Genet. 1999;7:197-204. (Pubitemid 29150230)
88. Matsushita S, Muramatsu T, Arai H, Matsui T, Higuchi S. The frequency of the methylenetetrahydrofolate reductase-gene mutation varies with age in the normal population. Am J Hum Genet. 1997;61:1459-1460. (Pubitemid 28046927)
89. Todesco L, Angst C, Litynski P, et al. Methylenetetrahydrofolate reductase polymorphism, plasma homocysteine and age. Eur J Clin Invest. 1999;29:1003-1009.
90. Zuliani G, Volpato S, Mecocci P, Cherubini A. The A677V MTHFR allele is not associated with carotid atherosclerosis in octogenarians. Stroke. 2000;31:990-991.
91. Harmon DL, McMaster D, Shields DC, Whitehead AS, Rea IM. MTHFR thermolabile genotype frequencies and longevity in Northern Ireland. Atherosclerosis. 1997;131:137-138. (Pubitemid 27240107)
92. Brattstrom L, Zhang Y, Hurtig M, et al. A common methylenetetrahydrofolate reductase gene mutation and longevity. Atherosclerosis. 1998;141:315-319. (Pubitemid 28539639)
93. Linnebank M, Fliessbach K, Kolsch H, Rietschel M, Wullner U. The methionine synthase polymorphism c.2756Aright curved arrow G (D919G) is relevant for disease-free longevity. Int J Mol Med. 2005;16:759-761.
94. Puca AA, Daly MJ, Brewster SJ, et al. A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc Natl Acad Sci U S A. 2001;98:10505-10508.
95. Geesaman BJ, Benson E, Brewster SJ, et al. Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan. Proc Natl Acad Sci U S A. 2003;100:14115-14120. (Pubitemid 37499200)
96. Nebel A, Croucher PJ, Stiegeler R, et al. No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. Proc Natl Acad Sci U S A. 2005;102:7906-7909. (Pubitemid 40781036)
97. Bathum L, Christiansen L, Tan Q, et al. No evidence for an association between extreme longevity and microsomal transfer protein polymorphisms in a longitudinal study of 1651 nonagenarians. Eur J Hum Genet. 2005;13:1154-1158. (Pubitemid 41486225)
98. Beekman M, Blauw GJ, Houwing-Duistermaat JJ, et al. Chromosome 4q25, microsomal transfer protein gene, and human longevity: novel data and a meta-analysis of association studies. J Gerontol A Biol Sci Med Sci. 2006;61:355-362.
99. Benes P, Muzik J, Benedik J, et al. The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population. J Mol Med. 2001;79:116-120. (Pubitemid 32285336)
100. Lottermoser K, Dusing R, Ervens P, et al. The plasminogen activator inhibitor 1 4G/5G polymorphism is not associated with longevity: a study in octogenarians. J Mol Med. 2001;79:289-293. (Pubitemid 32646385)
101. Christiansen L, Bathum L, Frederiksen H, Christensen K. Paraoxonase 1 polymorphisms and survival. Eur J Hum Genet. 2004;12:843-847.
102. Bonafe M, Marchegiani F, Cardelli M, et al. Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians. Eur J Hum Genet. 2002;10:292-296. (Pubitemid 34778047)
103. Rea IM, McKeown PP, McMaster D, et al. Paraoxonase polymorphisms PON1 192 and 55 and longevity in Italian centenarians and Irish nonagenarians. A pooled analysis.. Exp Gerontol. 2004;39:629-635. (Pubitemid 38402090)
104. Marchegiani F, Marra M, Spazzafumo L, et al. Paraoxonase activity and genotype predispose to successful aging. J Gerontol A Biol Sci Med Sci. 2006;61:541-546. (Pubitemid 43912090)
105. Campo S, Sardo MA, Trimarchi G, et al. Association between serum paraoxonase (PON1) gene promoter T(-107)C polymorphism, PON1 activity and HDL levels in healthy Sicilian octogenarians. Exp Gerontol. 2004;39:1089-1094. (Pubitemid 38952889)
106. Tan Q, Christiansen L, Bathum L, et al. Genetic association analysis of human longevity in cohort studies of elderly subjects: an example of the PON1 gene in the Danish 1905 birth cohort. Genetics. 2006;172:1821-1828.
107. Lunetta KL, D'Agostino RB, Sr., Karasik D, et al. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. BMC Med Genet, (Suppl 1):2007;8:S13. (Pubitemid 351958748)
108. De Benedictis G, Carotenuto L, Carrieri G, et al. Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). Eur J Hum Genet. 1998;6:534-541. (Pubitemid 29020786)
109. Bonafe M, Olivieri F, Mari D, et al. P53 codon 72 polymorphism and longevity: additional data on centenarians from continental Italy and Sardinia. Am J Hum Genet. 1999;65:1782-1785. (Pubitemid 30468693)
110. van Heemst D, Mooijaart SP, Beekman M, et al. Variation in the human TP53 gene affects old age survival and cancer mortality. Exp Gerontol. 2005;40:11-15. (Pubitemid 40138741)
111. Bojesen SE, Nordestgaard BG. The common germline Arg72Pro polymorphism of p53 and increased longevity in humans. Cell Cycle. 2008;7:158-163.
112. Orsted DD, Bojesen SE, Tybjaerg-Hansen A, Nordestgaard BG. Tumor suppressor p53 Arg72Pro polymorphism and longevity, cancer survival, and risk of cancer in the general population. J Exp Med. 2007;204:1295-1301. (Pubitemid 46919867)
113. de Maat MP, Bladbjerg EM, Hjelmborg JB, et al. Genetic influence on inflammation variables in the elderly. Arterioscler Thromb Vasc Biol. 2004;24:2168-2173.
114. Wang XL, Rainwater DL, VandeBerg JF, Mitchell BD, Mahaney MC. Genetic contributions to plasma total antioxidant activity. Arterioscler Thromb Vasc Biol. 2001;21:1190-1195. (Pubitemid 34215149)
115. Christiansen L, Petersen HC, Bathum L, et al. The catalase -262C/T promoter polymorphism and aging phenotypes. J Gerontol A Biol Sci Med Sci. 2004;59:B886-B889. (Pubitemid 39372597)
116. Bonafe M, Barbieri M, Marchegiani F, et al. Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control. J Clin Endocrinol Metab. 2003;88:3299-3304. (Pubitemid 36877508)
117. Kojima T, Kamei H, Aizu T, et al. Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways. Exp Gerontol. 2004;39:1595-1598. (Pubitemid 39576130)
118. van Heemst D, Beekman M, Mooijaart SP, et al. Reduced insulin/IGF-1 signalling and human longevity. Aging Cell. 2005;4:79-85. (Pubitemid 41632906)
119. Pesch B, Dusing R, Rabstein S, et al. Polymorphic metabolic susceptibility genes and longevity: a study in octogonarians. Toxicol Lett. 2004;151:283-290. (Pubitemid 38739051)
120. Christiansen L, Brasch-Andersen C, Bathum L, Kruse TA, Christensen K. A longitudinal study of the effect of GSTT1 and GSTM1 gene copy number on survival. Mech Ageing Dev. 2006;127:597-599. (Pubitemid 43729537)
121. Yamamura K, Hirose N, Arai Y. Contribution of glutathione S-transferase M1 to longevity. J Am Geriatr Soc. 2001;49:338-339.
122. Taioli E, Mari D, Franceschi C, et al. Polymorphisms of drug-metabolizing enzymes in healthy nonagenarians and centenarians: difference at GSTT1 locus. Biochem Biophys Res Commun. 2001;280:1389-1392. (Pubitemid 32917800)
123. Muiras ML, Verasdonck P, Cottet F, Schachter F. Lack of association between human longevity and genetic polymorphisms in drug-metabolizing enzymes at the NAT2, GSTM1 and CYP2D6 loci. Hum Genet. 1998;102:526-532. (Pubitemid 28282579)
124. Gaspari L, Pedotti P, Bonafe M, et al. Metabolic gene polymorphisms and p53 mutations in healthy centenarians and younger controls. Biomarkers. 2003;8:522-528. (Pubitemid 38418282)
125. Christiansen L, Bathum L, Andersen-Ranberg K, Jeune B, Christensen K. Modest implication of interleukin-6 promoter polymorphisms in longevity. Mech Ageing Dev. 2004;125:391-395. (Pubitemid 38595191)
126. Bonafe M, Olivieri F, Cavallone L, et al. A gender-dependent genetic predisposition to produce high levels of IL-6 is detrimental for longevity. Eur J Immunol. 2001;31:2357-2361. (Pubitemid 32785354)
127. Rea IM, Ross OA, Armstrong M, et al. Interleukin-6-gene C/G 174 polymorphism in nonagenarian and octogenarian subjects in the BELFAST study. Reciprocal effects on IL-6, soluble IL-6 receptor and for IL-10 in serum and monocyte supernatants. Mech Ageing Dev. 2003;124:555-561. (Pubitemid 36514913)
128. Ross OA, Curran MD, Meenagh A, et al. Study of age-association with cytokine gene polymorphisms in an aged Irish population. Mech Ageing Dev. 2003;124:199-206. (Pubitemid 36293929)
129. Cederholm T, Persson M, Andersson P, et al. Polymorphisms in cytokine genes influence long-term survival differently in elderly male and female patients. J Intern Med. 2007;262:215-223. (Pubitemid 47087623)
130. Capurso C, Solfrizzi V, D'Introno A, et al. Interleukin 6-174 G/C promoter gene polymorphism in centenarians: no evidence of association with human longevity or interaction with apolipoprotein E alleles. Exp Gerontol. 2004;39:1109-1114.
131. Wang XY, Hurme M, Jylha M, Hervonen A. Lack of association between human longevity and polymorphisms of IL-1 cluster, IL-6, IL-10 and TNF-alpha genes in Finnish nonagenarians. Mech Ageing Dev. 2001;123:29-38. (Pubitemid 32972256)
132. Pes GM, Lio D, Carru C, et al. Association between longevity and cytokine gene polymorphisms. A study in Sardinian centenarians. Aging Clin Exp Res. 2004;16:244-248. (Pubitemid 39232496)
133. Okayama N, Hamanaka Y, Suehiro Y, et al. Association of interleukin-10 promoter single nucleotide polymorphisms -819 T/C and -592 A/C with aging. J Gerontol A Biol Sci Med Sci. 2005;60:1525-1529. (Pubitemid 43146458)
134. Panza F, Capurso C, D'Introno A, et al. Differences in allele frequencies of ACE I/D polymorphism between Northern and Southern Europe at different ages. Atherosclerosis. 2007;193:455-457. (Pubitemid 47058113)
135. Candore G. Polymorphisms of IL-2, IL-10 and IFN- g genes in Sicilian elderly: implication for longevity. Biogerontology, (Suppl 1):2002;3:36-37.
136. Lio D, Scola L, Crivello A, et al. Gender-specific association between -1082 IL-10 promoter polymorphism and longevity. Genes Immun. 2002;3:30-33. (Pubitemid 38961103)
137. Cavallone L, Bonafe M, Olivieri F, et al. The role of IL-1 gene cluster in longevity: a study in Italian population. Mech Ageing Dev. 2003;124:533-538. (Pubitemid 36514910)
138. Lio D, Scola L, Crivello A, et al. Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10 -1082 promoter SNP and its interaction with TNF-alpha -308 promoter SNP. J Med Genet. 2003;40:296-299. (Pubitemid 36506445)
139. Almind K, Inoue G, Pedersen O, Kahn CR. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J Clin Invest. 1996;97:2569-2575. (Pubitemid 26187344)
140. Arking DE, Atzmon G, Arking A, Barzilai N, Dietz HC. Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Circ Res. 2005;96:412-418. (Pubitemid 40354534)
141. Rosenblatt KP, Kuro OM. Klotho, an aging-suppressor gene. Horm Res, (Suppl 1):2007;67:191-203.
142. Tanaka M, Gong J, Zhang J, et al. Mitochondrial genotype associated with longevity and its inhibitory effect on mutagenesis. Mech Ageing Dev. 2000;116:65-76.
143. Ross OA, McCormack R, Curran MD, et al. Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol. 2001;36:1161-1178. (Pubitemid 32536644)
144. Yao YG, Kong QP, Zhang YP. Mitochondrial DNA 5178A polymorphism and longevity. Hum Genet. 2002;111:462-463.
145. Ivanova R, Lepage V, Charron D, Schachter F. Mitochondrial genotype associated with French Caucasian centenarians. Gerontology. 1998;44:349. (Pubitemid 28517498)
146. Niemi AK, Moilanen JS, Tanaka M, et al. A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects. Eur J Hum Genet. 2005;13:166-170. (Pubitemid 40220560)
147. Zhang J, Asin-Cayuela J, Fish J, et al. Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A. 2003;100:1116-1121. (Pubitemid 36183965)
148. De Benedictis G, Rose G, Carrieri G, et al. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. Faseb J. 1999;13:1532-1536. (Pubitemid 29411786)
149. Dato S, Passarino G, Rose G, et al. Association of the mitochondrial DNA haplogroup J with longevity is population specific. Eur J Hum Genet. 2004;12:1080-1082. (Pubitemid 39600138)
150. Niemi AK, Hervonen A, Hurme M, et al. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet. 2003;112:29-33. (Pubitemid 36869112)
151. Cottet F, Blanche H, Verasdonck P, et al. New polymorphisms in the human poly(ADP-ribose) polymerase-1 coding sequence: lack of association with longevity or with increased cellular poly(ADP-ribosyl) ation capacity. J Mol Med. 2000;78:431-440. (Pubitemid 30809273)
152. Muiras ML, Muller M, Schachter F, Burkle A. Increased poly(ADP-ribose) polymerase activity in lymphoblastoid cell lines from centenarians. J Mol Med. 1998;76:346-354. (Pubitemid 28168333)
153. Flachsbart F, Croucher PJ, Nikolaus S, et al. Sirtuin 1 (SIRT1) sequence variation is not associated with exceptional human longevity. Exp Gerontol. 2006;41:98-102. (Pubitemid 43031374)
154. Rose G, Dato S, Altomare K, et al. Variability of the SIRT3 gene, human silent information regulator Sir2 homologue, and survivorship in the elderly. Exp Gerontol. 2003;38:1065-1070. (Pubitemid 37324417)
155. Bellizzi D, Rose G, Cavalcante P, et al. A novel VNTR enhancer within the SIRT3 gene, a human homologue of SIR2, is associated with survival at oldest ages. Genomics. 2005;85:258-263. (Pubitemid 40164791)
156. Parker JD, Parker KM, Sohal BH, Sohal RS, Keller L. Decreased expression of Cu-Zn superoxide dismutase 1 in ants with extreme lifespan. Proc Natl Acad Sci U S A. 2004;101:3486-3489. (Pubitemid 38338221)
157. Parkes TL, Elia AJ, Dickinson D, et al. Extension of Drosophila lifespan by overexpression of human SOD1 in motorneurons. Nat Genet. 1998;19:171-174. (Pubitemid 28248800)
158. Taufer M, Peres A, de Andrade VM, et al. Is the Val16Ala manganese superoxide dismutase polymorphism associated with the aging process? J Gerontol A Biol Sci Med Sci. 2005;60:432-438. (Pubitemid 40712858)
159. Hiroi S, Harada H, Nishi H, et al. Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese. Biochem Biophys Res Commun. 1999;261:332-339. (Pubitemid 29392477)
160. Ross OA, Curran MD, Rea IM, et al. HLA haplotypes and TNF polymorphism do not associate with longevity in the Irish. Mech Ageing Dev. 2003;124:563-567.
161. Soto-Vega E, Richaud-Patin Y, Llorente L. Human leukocyte antigen class I, class II, and tumor necrosis factor-alpha polymorphisms in a healthy elder Mexican Mestizo population. Immun Ageing. 2005;2:13. (Pubitemid 44848798)
162. Balistreri CR, Candore G, Colonna-Romano G, et al. Role of Toll-like receptor 4 in acute myocardial infarction and longevity. Jama. 2004;292:2339-2340. (Pubitemid 39491917)
163. Gao X, Yang H, ZhiPing T. Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke. Neurosci Lett. 2006;398:172-177. (Pubitemid 43673708)
164. Gormley K, Bevan S, Markus HS. Polymorphisms in genes of the renin-angiotensin system and cerebral small vessel disease. Cerebrovasc Dis. 2007;23:148-155. (Pubitemid 46239155)
165. Banerjee I, Gupta V, Ganesh S. Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis. J Hum Genet. 2007;52:205-219. (Pubitemid 46318941)
166. Ariyaratnam R, Casas JP, Whittaker J, et al. Genetics of ischaemic stroke among persons of non-European descent: a meta-analysis of eight genes involving approximately 32,500 individuals. PLoS Med. 2007;4:e131. (Pubitemid 46658774)
167. Fallin D, Cohen A, Essioux L, et al. Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease. Genome Res. 2001;11:143-151. (Pubitemid 32117960)
168. Martin ER, Gilbert JR, Lai EH, et al. Analysis of association at single nucleotide polymorphisms in the APOE region. Genomics. 2000;63:7-12.
169. Frazer KA, Ballinger DG, Cox DR, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449:851-861.
170. The International HapMap Consortium, Integrating ethics and science in the International HapMap Project. Nat Rev Genet. 2004;5:467-475.
171. Stram DO, Haiman CA, Hirschhorn JN, et al. Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered. 2003;55:27-36.
172. de Bakker PI, Yelensky R, Pe'er I, et al. Efficiency and power in genetic association studies. Nat Genet. 2005;37:1217-1223. (Pubitemid 41568704)
173. Carlson CS, Eberle MA, Rieder MJ, et al. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004;74:106-120.
174. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
175. Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-1493. (Pubitemid 46906618)
176. Scott LJ, Mohlke KL, Bonnycastle LL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316:1341-1345.
177. McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-1491. (Pubitemid 46906617)
178. Zeggini E, Weedon MN, Lindgren CM, et al. Replication of genomewide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316:1336-1341. (Pubitemid 46871654)
179. Saxena R, Voight BF, Lyssenko V, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316:1331-1336. (Pubitemid 46871653)
180. Zindy F, Quelle DE, Roussel MF, Sherr CJ. Expression of the p16INK4a tumor suppressor versus other INK4 family members during mouse development and aging. Oncogene. 1997;15:203-211. (Pubitemid 27344559)
181. Krishnamurthy J, Ramsey MR, Ligon KL, et al. p16INK4a induces an age-dependent decline in islet regenerative potential. Nature. 2006;443:453-457. (Pubitemid 44477281)
182. Krishnamurthy J, Torrice C, Ramsey MR, et al. Ink4a/Arf expression is a biomarker of aging. J Clin Invest. 2004;114:1299-1307.
183. Zondervan KT, Cardon LR. Designing candidate gene and genome-wide case-control association studies. Nat Protoc. 2007;2:2492-2501.
184. Wang H, Thomas DC, Pe'er I, Stram DO. Optimal two-stage genotyping designs for genome-wide association scans. Genet Epidemiol. 2006;30:356-368.
185. Satagopan JM, Venkatraman ES, Begg CB. Two-stage designs for gene-disease association studies with sample size constraints. Biometrics. 2004;60:589-597.
186. Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet. 2007;39:906-913. (Pubitemid 47014502)
187. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30:97-101.
188. Nicolae DL. Testing untyped alleles (TUNA)-applications to genomewide association studies. Genet Epidemiol. 2006;30:718-727.
189. Martin HJ, Yule V, Syddall HE, et al. Is hand-held dynamometry useful for the measurement of quadriceps strength in older people? A comparison with the gold standard Bodex dynamometry. Gerontology. 2006;52:154-159. (Pubitemid 43800677)
190. Greenland S. Basic methods for sensitivity analysis of biases. Int J Epidemiol. 1996;25:1107-1116. (Pubitemid 27013514)
191. Spiegelman D, McDermott A, Rosner B. Regression calibration method for correcting measurement-error bias in nutritional epidemiology. Am J Clin Nutr, (Suppl 4):1997;65:1179S-1186S. (Pubitemid 27152583)
192. Schork NJ, Nath SK, Fallin D, Chakravarti A. Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. Am J Hum Genet. 2000;67:1208-1218. (Pubitemid 30816326)
193. Arking DE, Pfeufer A, Post W, et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet. 2006;38:644-651. (Pubitemid 43927305)
194. Gottesman, II, Gould TD. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry. 2003;160:636-645.
195. Estivill X, Armengol L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet. 2007;3:1787-1799. (Pubitemid 350072046)
196. Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med. 2007;9:600-606. (Pubitemid 47415269)
197. King CM, Gillespie ES, McKenna PG, Barnett YA. An investigation of mutation as a function of age in humans. Mutat Res. 1994;316:79-90.
198. Weirich-Schwaiger H, Weirich HG, Gruber B, Schweiger M, Hirsch-Kauffmann M. Correlation between senescence and DNA repair in cells from young and old individuals and in premature aging syndromes. Mutat Res. 1994;316:37-48.
199. Yakes FM, Van Houten B. Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci U S A. 1997;94:514-519. (Pubitemid 27053665)
200. Richter C. Oxidative damage to mitochondrial DNA and its relationship to ageing. Int J Biochem Cell Biol. 1995;27:647-653.
201. Harman D. The biologic clock: the mitochondria? J Am Geriatr Soc. 1972;20:145-147.
202. Fukunaga M, Yielding KL. Deletion of mitochondrial genetic markers in yeast by ethidium and the photoaffinity probe, ethidium azide. Jpn J Med Sci Biol. 1979;32:219-223. (Pubitemid 10137350)
203. Ashok BT, Ali R. The aging paradox: free radical theory of aging. Exp Gerontol. 1999;34:293-303. (Pubitemid 29293608)
204. Fleming JE, Miquel J, Cottrell SF, Yengoyan LS, Economos AC. Is cell aging caused by respiration-dependent injury to the mitochondrial genome? Gerontology. 1982;28:44-53. (Pubitemid 12191285)
205. Epel ES, Blackburn EH, Lin J, et al. Accelerated telomere shortening in response to life stress. Proc Natl Acad Sci U S A. 2004;101:17312-17315. (Pubitemid 39627816)
206. Joeng KS, Song EJ, Lee KJ, Lee J. Long lifespan in worms with long telomeric DNA. Nat Genet. 2004;36:607-611. (Pubitemid 38715988)
207. von Zglinicki T. Oxidative stress shortens telomeres. Trends Biochem Sci. 2002;27:339-344.
208. Wright WE, Shay JW. Telomere-binding factors and general DNA repair. Nat Genet. 2005;37:116-118.
209. Wright WE, Shay JW. Telomere biology in aging and cancer. J Am Geriatr Soc. 2005;37(Suppl 9):S292-S294.
210. Bjornsson HT, Fallin MD, Feinberg AP. An integrated epigenetic and genetic approach to common human disease. Trends Genet. 2004;20:350-358.
211. Mays-Hoopes LL. Age-related changes in DNA methylation: do they represent continued developmental changes? Int Rev Cytol. 1989;114:181-220. (Pubitemid 19124970)
212. Issa JP, Ottaviano YL, Celano P, et al. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat Genet. 1994;7:536-540. (Pubitemid 24308343)
213. Cooney CA. Are somatic cells inherently deficient in methylation metabolism? A proposed mechanism for DNA methylation loss, senescence and aging. Growth Dev Aging. 1993;57:261-273.
214. Herman JG, Baylin SB. Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med. 2003;349:2042-2054. (Pubitemid 37448928)
215. Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A. 2005;102:10604-10609. (Pubitemid 41061601)
216. Eckhardt F, Beck S, Gut IG, Berlin K. Future potential of the Human Epigenome Project. Expert Rev Mol Diagn. 2004;4:609-618. (Pubitemid 39220836)
217. Armitage P. Tests for linear trends in proportions and frequencies. Biometrics. 1955;11:375-386.
218. Cochran W. Some methods for strengthening the common chi-square tests. Biometrics. 1954;10:417-451.
219. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38:904-909. (Pubitemid 44141658)
220. Devlin B, Roeder K. Genomic control for association studies. Biometrics. 1999;55:997-1004.
221. Pritchard JK, Stephens M, Rosenberg NA, Donnelly P. Association mapping in structured populations. Am J Hum Genet. 2000;67:170-181.
222. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics. 2000;155:945-959. (Pubitemid 30397141)
223. Devlin B, Roeder K, Wasserman L. Genomic control a new approach to genetic-based association studies. Theor Popul Biol. 2001;60:155-166. (Pubitemid 34235086)
224. Devlin B, Roeder K, Wasserman L. Genomic control for association studies: a semiparametric test to detect excess-haplotype sharing. Biostatistics. 2000;1:369-387. (Pubitemid 33213543)
225. Unneberg P, Stromberg M, Sterky F. SNP discovery using advanced algorithms and neural networks. Bioinformatics. 2005;21:2528-2530. (Pubitemid 40731615)
226. Breiman L, Friedman JH, Stone CJ, Olshen RA. 1984. Classification and Regression Trees ed ED New. United States of America: Chapman and Hall. 368.
227. Hastie T, Tibshrani R, Friedman JH. 2003. The Elements of Statistical Learning. Springer Series in Statisitics Vol.1 1st ed. New York, NY: Springer. 552.
228. Kooperberg C, Ruczinski I. Identifying interacting SNPs using Monte Carlo logic regression. Genet Epidemiol. 2005:28:157-170.
229. Curtis D, North BV, Sham PC. Use of an artificial neural network to detect association between a disease and multiple marker genotypes. Ann Hum Genet. 2001;65(Pt 1):95-107. (Pubitemid 32390191)
230. Larsen P, Almasri E, Chen G, Dai Y. A statistical method to incorporate biological knowledge for generating testable novel gene regulatory interactions from microarray experiments. BMC Bioinformatics. 2007;8:317. (Pubitemid 350148302)
231. Sidak Z. Rectangular confidence regions for the means of multivariate normal distributions. J Am Stat Assoc. 1967;62:626-633.
232. Westfall PH, Zaykin DV, Young SS. Multiple tests for genetic effects in association studies. Methods Mol Biol. 2002;184:143-168.
233. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004;74:765-769.
234. Conneely KN, Boehnke M. So Many Correlated Tests, So Little Time! Rapid Adjustment of P Values for Multiple Correlated Tests. Am J Hum Genet. 2007;81:1158-1168.
235. Seaman SR, Muller-Myhsok B. Rapid simulation of P values for product methods and multiple-testing adjustment in association studies. Am J Hum Genet. 2005;76:399-408. (Pubitemid 40250520)
236. Storey JD. The positive false discovery rate: a Bayesian interpretation and the q-value. Annals of Statistics. 2003;31:2013-2035.
237. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Statist Soc. B. 1995;57:289-300.
238. Thomas DC, Witte JS, Greenland S. Dissecting effects of complex mixtures: who's afraid of informative priors? Epidemiology. 2007;18:186-190. (Pubitemid 46263355)
239. Greenland S. Methods for epidemiologic analyses of multiple exposures: a review and comparative study of maximum-likelihood, preliminary-testing, and empirical-Bayes regression. Stat Med. 1993;12:717-736. (Pubitemid 23134303)