Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

American Journal of Human Genetics

Volumn 79, Issue 1, 2006, Pages 54-61

  Saxena, Richa ^a,b,c,e   De Bakker, Paul I W ^a,b,c,e   Singer, Karyn ^a,b,e   Mootha, Vamsi ^a,e   Burtt, Noël ^e   Hirschhorn, Joel N ^c,d,e   Gaudet, Daniel ^g   Isomaa, Bo ^h,i   Daly, Mark J ^a,b,e   Groop, Leif ^j   Ardlie, Kristin G ^f   Altshuler, David ^a,b,c,e  

^a Center for Human Genetic Research   (United States)

^b Department of Molecular Biology ^*  (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^f Genomics Collaborative   (United States)

^g UNIVERSITÉ DE MONTRÉAL   (Canada)

^h FOLKHÄLSAN RESEARCH CENTER   (Finland)

ⁱ Malmska Municipal Health Center and Hospital   (Finland)

^j LUND UNIVERSITY HOSPITAL   (Sweden)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

ARTICLE; BLOOD PRESSURE; BODY MASS; CHOLESTEROL BLOOD LEVEL; COLD CLIMATE; CONTROLLED STUDY; DNA DETERMINATION; ENERGY METABOLISM; EUROPE; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUNTINGTON CHOREA; INSULIN RELEASE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MUSCLE DISEASE; NATURAL SELECTION; NEUROLOGIC DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; OXIDATIVE PHOSPHORYLATION; PARKINSON DISEASE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33745273048     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/504926     Document Type: Article

References (59)

1. Mootha VK, Bunkenborg J, Olsen JV, Hjerrild M, Wisniewski JR, Stahl E, Bolouri MS, Ray HN, Sihag S, Kamal M, Patterson N, Lander ES, Mann M (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell 115:629-640
2. Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39:359-407
3. Dimauro S, Davidzon G (2005) Mitochondrial DNA and disease. Ann Med 37:222-232
4. Smeitink JA, Zeviani M, Turnbull DM, Jacobs HT (2006) Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab 3:9-13
5. Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:2153-2172
6. Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402
7. Barrett TG (2001) Mitochondrial diabetes, DIDMOAD and other inherited diabetes syndromes. Best Pract Res Clin Endocrinol Metab 15:325-343
8. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368-371
9. Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 306:1190-1194
10. Simoneau JA, Kelley DE (1997) Altered glycolytic and oxidative capacities of skeletal muscle contribute to insulin resistance in NIDDM. J Appl Physiol 83:166-171
11. Kelley DE, HeJ, Menshikova EV, Ritov VB (2002) Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes. Diabetes 51:2944-2950
12. Ritov VB, Menshikova EV, He J, Ferrell RE, Goodpaster BH, Kelley DE (2005) Deficiency of subsarcolemmal mitochondria in obesity and type 2 diabetes. Diabetes 54:8-14
13. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstrale M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC (2003) PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 34:267-273
14. Patti ME, Butte AJ, Crunkhorn S, Cusi K, Berria R, Kashyap S, Miyazaki Y, Kohane I, Costello M, Saccone R, Landaker EJ, Goldfine AB, Mun E, DeFronzo R, Finlayson J, Kahn CR, Mandarino LJ (2003) Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: potential role of PGC1 and NRF1. Proc Natl Acad Sci USA 100:8466-8471
15. Petersen KF, Befroy D, Dufour S, Dziura J, Ariyan C, Rothman DL, DiPietro L, Cline GW, Shulman GI (2003) Mitochondrial dysfunction in the elderly: possible role in insulin resistance. Science 300:1140-1142
16. Petersen KF, Dufour S, Befroy D, Garcia R, Shulman GI (2004) Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes. N Engl J Med 350:664-671
17. Petersen KF, Dufour S, Shulman GI (2005) Decreased insulin-stimulated ATP synthesis and phosphate transport in muscle of insulin-resistant offspring of type 2 diabetic parents. PLoS Med 2:e233
18. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Dickers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100:171-176
19. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC, Coskun PE, Golik P, Macaulay V, Clark AG, Hosseini S, Easley K, Chen E, Brown MD, Sukernik RI, Dickers A (2004) Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303:223-226
20. Lowell BB, Shulman GI (2005) Mitochondrial dysfunction and type 2 diabetes. Science 307:384-387
21. Savage DB, Petersen KF, Shulman GI (2005) Mechanisms of insulin resistance in humans and possible links with inflammation. Hypertension 45:828-833
22. Schapira AH (1999) Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim Biophys Acta 1410:159-170
23. Beal MF (2005) Mitochondria take center stage in aging and neurodegeneration. Ann Neurol 58:495-505
24. Poulton J, Brown MS, Cooper A, Marchington DR, Phillips DI (1998) A common mitochondrial DNA variant is associated with insulin resistance in adult life. Diabetologia 41:54-58
25. Poulton J, Bednarz AL, Scott-Brown M, Thompson C, Macaulay VA, Simmons D (2002) The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland. Diabet Med 19:969-971
26. Poulton J, Luan J, Macaulay V, Hennings S, Mitchell J, Wareham NJ (2002) Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum Mol Genet 11:1581-1583
27. Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, Boehnke M, Collins FS (2005) Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns. Hum Genet 118:245-254
28. Chinnery PF, Elliott HR, Patel S, Lambert C, Keers SM, Durham SE, McCarthy MI, Hitman GA, Hattersley AT, Walker M (2005) Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet 366:1650-1651
29. Herrnstadt C, Howell N (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders. Mitochondrion 4:791-798
30. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152-1171
31. Florez JC, Sjogren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L (2004) Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes 53:3313-3318
32. Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D (2005) Association testing of variants in the hepatocyte nuclear factor 4α gene with risk of type 2 diabetes in 7,883 people. Diabetes 54:886-892
33. Tang K, Oeth P, Kammerer S, Denissenko MF, Ekblom J, Jurinke C, van den Boom D, Braun A, Cantor CR (2004) Mining disease susceptibility genes through SNP analyses and expression profiling using MALDI-TOF mass spectrometry. J Proteome Res 3:218-227
34. Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K (2004) Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet 115:29-35
35. Carried G, Bonafe M, De Luca M, Rose G, Varcasia O, Bruni A, Maletta R, Nacmias B, Sorbi S, Corsonello F, Feraco E, Andreev KF, Yashin AI, Franceschi C, De Benedictis G (2001) Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. Hum Genet 108:194-198
36. Dato S, Passarino G, Rose G, Altomare K, Bellizzi D, Mari V, Feraco E, Franceschi C, De Benedictis G (2004) Association of the mitochondrial DNA haplogroup J with longevity is population specific. Eur J Hum Genet 12:1080-1082
37. De Benedictis G, Rose G, Carrieri G, De Luca M, Falcone E, Passarino G, Bonafe M, Monti D, Baggio G, Bertolini S, Mari D, Mattace R, Franceschi C (1999) Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J 13:1532-1536
38. De Benedictis G, Carrieri G, Varcasia O, Bonafe M, Franceschi C (2000) Inherited variability of the mitochondrial genome and successful aging in humans. Ann N Y Acad Sci 908:208-218
39. Giacchetti M, Monticelli A, De Biase I, Pianese L, Turano M, Filla A, De Michele G, Cocozza S (2004) Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype. J Med Genet 41:293-295
40. Khogali SS, Mayosi BM, Beattie JM, McKenna WJ, Watkins H, Poulton J (2001) A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. Lancet 357:1265-1267
41. Momiyama Y, Furutani M, Suzuki Y, Ohmori R, Imamura S, Mokubo A, Asahina T, Murata C, Kato K, Anazawa S, Hosokawa K, Atsumi Y, Matsuoka K, Kimura M, Kasanuki H, Ohsuzu F, Matsuoka R (2003) A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes. Biochem Biophys Res Commun 312:858-864
42. Niemi AK, Hervonen A, Hurme M, Karhunen PJ, Jylha M, Majamaa K (2003) Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet 112:29-33
43. Niemi AK, Moilanen JS, Tanaka M, Hervonen A, Hurme M, Lehtimaki T, Arai Y, Hirose N, Majamaa K (2005) A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects. Eur J Hum Genet 13:166-170
44. Ross OA, McCormack R, Curran MD, Duguid RA, Barnett YA, Rea IM, Middleton D (2001) Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol 36:1161-1178
45. Tanaka M, Gong JS, Zhang J, Yoneda M, Yagi K (1998) Mitochondrial genotype associated with longevity. Lancet 351:185-186
46. Tanaka M (2002) Mitochondrial genotypes and cytochrome b variants associated with longevity or Parkinson's disease. J Neurol Suppl 2 249:II/11-II/18
47. van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, et al (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72:804-811
48. van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, Welsh-Bohmer KA, Saunders AM, Roses AD, Small GW, Schmechel DE, Murali Doraiswamy P, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA (2004) Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 365:28-32
49. Huerta C, Castro MG, Coto E, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Martinez C, Lahoz CH, Alvarez V (2005) Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J Neurol Sci 236:49-54
50. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
51. Kruglyak L, Nickerson DA (2001) Variation is the spice of life. Nat Genet 27:234-236
52. Reich DE, Gabriel SB, Altshuler D (2003) Quality and completeness of SNP databases. Nat Genet 33:457-458
53. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-1320
54. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D (2005) Efficiency and power in genetic association studies. Nat Genet 37:1217-1223
55. Marchini J, Donnelly P, Cardon LR (2005) Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 37:413-417
56. Purcell S, Cherny SS, Sham PC (2003) Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-150
57. Maitra A, Cohen Y, Gillespie SE, Mambo E, Fukushima N, Hoque MO, Shah N, Goggins M, Califano J, Sidransky D, Chakravarti A (2004) The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res 14:812-819
58. Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis KK, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172:373-387
59. Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U (1996) Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci USA 93:12382-12387