Genetic approaches to stature, pubertal timing, and other complex traits

Molecular Genetics and Metabolism

Volumn 80, Issue 1-2, 2003, Pages 1-10

  Palmert, Mark R ^a,b   Hirschhorn, Joel N ^c,d,e  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BODY HEIGHT; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LINKAGE GROUP; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC TRAIT; GENETIC VARIABILITY; GENOME ANALYSIS; HAPLOTYPE; HUMAN; NEUROENDOCRINOLOGY; PEDIGREE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PUBERTY; SHORT SURVEY;

EID: 0142058099     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00107-0     Document Type: Short Survey

References (115)

1. Reiter E.O., Rosenfeld R.G. Normal and aberrant growth. Larsen P.R., Kronenberg H.M., Melmed S., Polonsky K.S. William's Textbook of Endocrinology. 10th ed. 2003;1003-1114 W.B. Saunders, Philadelphia.
2. Grumbach M.M., Styne D.M. Puberty: ontogeny, neuroendocrinology, physiology, disorders. Larsen P.R., Kronenberg H.M., Melmed S., Polonsky K.S. William's Textbook of Endocrinology. tenth ed. 2003;1115-1286 W.B. Saunders, Philadelphia.
3. Phillips K., Matheny A.P. Jr. Quantitative genetic analysis of longitudinal trends in height: preliminary results from the Louisville Twin Study. Acta Genet. Med. Gemellol. (Roma). 39:1990;143-163.
4. Carmichael C.M., McGue M. A cross-sectional examination of height, weight, and body mass index in adult twins. J. Gerontol. A Biol. Sci. Med. Sci. 50:1995;B237-B244.
5. Preece M.A. The genetic contribution to stature. Horm. Res. 45(Suppl 2):1996;56-58.
6. Silventoinen K., Kaprio J., Lahelma E., Koskenvuo M. Relative effect of genetic and environmental factors on body height: differences across birth cohorts among Finnish men and women. Am. J. Public Health. 90:2000;627-630.
7. Jepson A., Banya W., Hassan-King M., Sisay F., Bennett S., Whittle H. Twin children in The Gambia: evidence for genetic regulation of physical characteristics in the presence of sub-optimal nutrition. Ann. Trop. Paediatr. 14:1994;309-313.
8. Garn S.M., Bailey S.M. Genetics and maturational processes. Falkner F., Tanner J.M. Human Growth 1: Principles and Prenatal Growth. 1978;307-330 Plenum, New York.
9. Zacharias L., Wurtman R.J. Age at menarche. Genetic and environmental influences. N. Engl. J. Med. 280:1969;868-875.
10. Herman-Giddens M.E., Slora E.J., Wasserman R.C., Bourdony C.J., Bhapkar M.V., Koch G.G., Hasemeier C.M. Secondary sexual characteristics and menses in young girls seen in office practice: a study from the Pediatric Research in Office Settings network. Pediatrics. 99:1997;505-512.
11. Meyer J.M., Eaves L.J., Heath A.C., Martin N.G. Estimating genetic influences on the age-at-menarche: a survival analysis approach. Am. J. Med. Genet. 39:1991;148-154.
12. Loesch D.Z., Huggins R., Rogucka E., Hoang N.H., Hopper J.L. Genetic correlates of menarcheal age: a multivariate twin study. Ann. Hum. Biol. 22:1995;470-490.
13. Fischbein S. Intra-pair similarity in physical growth of monozygotic and of dizygotic twins during puberty. Ann. Hum. Biol. 4:1977;417-430.
14. Sklad M. The rate of growth and maturing of twins. Acta Genet. Med. Gemellol. 26:1977;221-237.
15. Kaprio J., Rimpela A., Winter T., Viken R.J., Rimpela M., Rose R.J. Common genetic influences on BMI and age at menarche. Hum. Biol. 67:1995;739-753.
16. Treloar S.A., Martin N.G. Age at menarche as a fitness trait: nonadditive genetic variance detected in a large twin sample. Am. J. Hum. Genet. 47:1990;137-148.
17. Lander E.S., Schork N.J. Genetic dissection of complex traits. Science. 265:1994;2037-2048.
18. Collins F.S., Guyer M.S., Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science. 278:1997;1580-1581.
19. Carter C.O., Marshall W.A. The genetics of adult stature. Falkner F., Tanner J.M. Human Growth 1: Principles and Prenatal Growth. 1978;299-305 Plenum, New York.
20. Palmert M.R., Boepple P.A. Variation in the timing of puberty: clinical spectrum and genetic investigation. J. Clin. Endocrinol. Metab. 86:2001;2364-2368.
21. Seminara S.B., Hayes F.J., Crowley W.F. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr. Rev. 19:1998;521-539.
22. Achermann J.C., Ozisik G., Meeks J.J., Jameson J.L. Genetic causes of human reproductive disease. J. Clin. Endocrinol. Metab. 87:2002;2447-2454.
23. Kalantaridou S.N., Chrousos G.P. Clinical review 148: monogenic disorders of puberty. J. Clin. Endocrinol. Metab. 87:2002;2481-2494.
24. Farooqi I.S., Jebb S.A., Langmack G., Lawrence E., Cheetham C.H., Prentice A.M., Hughes I.A., McCamish M.A., O'Rahilly S. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N. Engl. J. Med. 341:1999;879-884.
25. Cohen L.E., Radovick S. Molecular basis of combined pituitary hormone deficiencies. Endocr. Rev. 23:2002;431-442.
26. Superti-Furga A., Bonafe L., Rimoin D.L. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am. J. Med. Genet. 106:2001;282-293.
27. Wajnrajch M.P. Genetic disorders of human growth. J. Pediatr. Endocrinol. Metab. 15(Suppl 2):2002;701-714.
28. de Roux N., Young J., Misrahi M., Genet R., Chanson P., Schaison G., Milgrom E. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N. Engl. J. Med. 337:1997;1597-1602.
29. Franco B., Guioli S., Pragliola A., Incerti B., Bardoni B., Tonlorenzi R., Carrozzo R., Maestrini E., Pieretti M., Taillon-Miller P.et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 353:1991;529-536.
30. Legouis R., Hardelin J.P., Levilliers J., Claverie J.M., Compain S., Wunderle V., Millasseau P., Le Paslier D., Cohen D., Caterina D.et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 67:1991;423-435.
31. Dode C., Levilliers J., Dupont J.M., De Paepe A., Le Du N., Soussi-Yanicostas N., Coimbra R.S., Delmaghani S., Compain-Nouaille S., Baverel F., Pecheux C., Le Tessier D., Cruaud C., Delpech M., Speleman F., Vermeulen S., Amalfitano A., Bachelot Y., Bouchard P., Cabrol S., Carel J.C., Delemarre-Van De Waal H., Goulet-Salmon B., Kottler M.L., Richard O., Sanchez-Franco F., Saura R., Young J., Petit C., Hardelin J.P. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat. Genet. 33:2003;463-465.
32. Muscatelli F., Strom T.M., Walker A.P., Zanaria E., Recan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W.et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature. 372:1994;672-676.
33. Zanaria E., Muscatelli F., Bardoni B., Strom T.M., Guioli S., Guo W., Lalli E., Moser C., Walker A.P., McCabe E.R.et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature. 372:1994;635-641.
34. Jackson R.S., Creemers J.W., Ohagi S., Raffin-Sanson M.L., Sanders L., Montague C.T., Hutton J.C., O'Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat. Genet. 16:1997;303-306.
35. Montague C.T., Farooqi I.S., Whitehead J.P., Soos M.A., Rau H., Wareham N.J., Sewter C.P., Digby J.E., Mohammed S.N., Hurst J.A., Cheetham C.H., Earley A.R., Barnett A.H., Prins J.B., O'Rahilly S. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 387:1997;903-908.
36. Clement K., Vaisse C., Lahlou N., Cabrol S., Pelloux V., Cassuto D., Gourmelen M., Dina C., Chambaz J., Lacorte J.M., Basdevant A., Bougneres P., Lebouc Y., Froguel P., Guy-Grand B. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. Nature. 392:1998;398-401.
37. Strobel A., Issad T., Camoin L., Ozata M., Strosberg A.D. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat. Genet. 18:1998;213-215.
38. Phillips III J.A., Hjelle B.L., Seeburg P.H., Zachmann M. Molecular basis for familial isolated growth hormone deficiency. Proc. Natl. Acad. Sci. USA. 78:1981;6372-6375.
39. Amselem S., Duquesnoy P., Attree O., Novelli G., Bousnina S., Postel-Vinay M.C., Goossens M. Laron dwarfism and mutations of the growth hormone-receptor gene. N. Engl. J. Med. 321:1989;989-995.
40. Godowski P.J., Leung D.W., Meacham L.R., Galgani J.P., Hellmiss R., Keret R., Rotwein P.S., Parks J.S., Laron Z., Wood W.I. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc. Natl. Acad. Sci. USA. 86:1989;8083-8087.
41. Kurotaki N., Imaizumi K., Harada N., Masuno M., Kondoh T., Nagai T., Ohashi H., Naritomi K., Tsukahara M., Makita Y., Sugimoto T., Sonoda T., Hasegawa T., Chinen Y., Tomita Ha H.A., Kinoshita A., Mizuguchi T., Yoshiura Ki K., Ohta T., Kishino T., Fukushima Y., Niikawa N., Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat. Genet. 30:2002;365-366.
42. Tartaglia M., Mehler E.L., Goldberg R., Zampino G., Brunner H.G., Kremer H., van der Burgt I., Crosby A.H., Ion A., Jeffery S., Kalidas K., Patton M.A., Kucherlapati R.S., Gelb B.D. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29:2001;465-468.
43. Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M., Nordsiek G., Heinrich U., Breuning M.H., Ranke M.B., Rosenthal A., Ogata T., Rappold G.A. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet. 16:1997;54-63.
44. Rappold G.A., Fukami M., Niesler B., Schiller S., Zumkeller W., Bettendorf M., Heinrich U., Vlachopapadoupoulou E., Reinehr T., Onigata K., Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J. Clin. Endocrinol. Metab. 87:2002;1402-1406.
45. Waldstreicher J., Seminara S.B., Jameson J.L., Geyer A., Nachtigall L.B., Boepple P.A., Holmes L.B., Crowley W.F. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J. Clin. Endocrinol. Metab. 81:1996;4388-4395.
46. Weiss K.M., Terwilliger J.D. How many diseases does it take to map a gene with SNPs? Nat. Genet. 26:2000;151-157.
47. Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet. 69:2001;124-137.
48. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P.A., Harshman K., Tavtigian S., Liu Q., Cochran C., Bennett L.M., Ding W.et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:1994;66-71.
49. Castilla L.H., Couch F.J., Erdos M.R., Hoskins K.F., Calzone K., Garber J.E., Boyd J., Lubin M.B., Deshano M.L., Brody L.C.et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat. Genet. 8:1994;387-391.
50. Friedman L.S., Ostermeyer E.A., Szabo C.I., Dowd P., Lynch E.D., Rowell S.E., King M.C. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat. Genet. 8:1994;399-404.
51. Simard J., Tonin P., Durocher F., Morgan K., Rommens J., Gingras S., Samson C., Leblanc J.F., Belanger C., Dion F.et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat. Genet. 8:1994;392-398.
52. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., Collins N., Gregory S., Gumbs C., Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:1995;789-792.
53. Vaisse C., Clement K., Durand E., Hercberg S., Guy-Grand B., Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest. 106:2000;253-262.
54. Hirschhorn J.N., Altshuler D. Once and again-issues surrounding replication in genetic association studies. J. Clin. Endocrinol. Metab. 87:2002;4438-4441.
55. Blanche H., Vexiau P., Clauin S., Le Gall I., Fiet J., Mornet E., Dausset J., Bellanne-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Hum. Genet. 101:1997;56-60.
56. Witchel S.F., Lee P.A., Suda-Hartman M., Hoffman E.P. Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency. Biochem. Mol. Med. 62:1997;151-158.
57. Reich D.E., Lander E.S. On the allelic spectrum of human disease. Trends Genet. 17:2001;502-510.
58. Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22:1999;231-238.
59. Halushka M.K., Fan J.B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat. Genet. 22:1999;239-247.
60. Sachidanandam R., Weissman D., Schmidt S.C., Kakol J.M., Stein L.D., Marth G., Sherry S., Mullikin J.C., Mortimore B.J., Willey D.L., Hunt S.E., Cole C.G., Coggill P.C., Rice C.M., Ning Z., Rogers J., Bentley D.R., Kwok P.Y., Mardis E.R., Yeh R.T., Schultz B., Cook L., Davenport R., Dante M., Fulton L., Hillier L., Waterston R.H., McPherson J.D., Gilman B., Schaffner S., Van Etten W.J., Reich D., Higgins J., Daly M.J., Blumenstiel B., Baldwin J., Stange-Thomann N., Zody M.C., Linton L., Lander E.S., Altshuler D. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 409:2001;928-933.
61. Ioannidis J.P., Ntzani E.E., Trikalinos T.A., Contopoulos-Ioannidis D.G. Replication validity of genetic association studies. Nat. Genet. 29:2001;306-309.
62. Hirschhorn J.N., Lohmueller K., Byrne E., Hirschhorn K. A comprehensive review of genetic association studies. Genet. Med. 4:2002;45-61.
63. Lohmueller K.E., Pearce C.L., Pike M., Lander E.S., Hirschhorn J.N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33:2003;177-182.
64. Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science. 273:1996;1516-1517.
65. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am. J. Hum. Genet. 46:1990;222-228.
66. Argente J. Diagnosis of late puberty. Horm. Res. 51:1999;95-100.
67. Giovannelli G., Volta C., Ghizzoni L. Delayed puberty. J. Endocrinol. Invest. 12:1989;75-80.
68. Kulin H.E. Delayed puberty. J. Clin. Endocrinol. Metab. 81:1996;3460-3464.
69. Prader A. Delayed adolescence. Clin. Endocrinol. Metab. 4:1975;143.
70. Rosenfield R.L. Clinical review 6: diagnosis and management of delayed puberty. J. Clin. Endocrinol. Metab. 70:1990;559-562.
71. Sedlmeyer I.L., Palmert M.R. Delayed puberty: analysis of a large case series from an academic center. J. Clin. Endocrinol. Metab. 87:2002;1613-1620.
72. Sperlich M., Butenandt O., Schwarz H.P. Final height and predicted height in boys with untreated constitutional growth delay. Eur. J. Pediatr. 154:1995;627-632.
73. Toublanc J.E., Roger M., Chaussain J.L. Etiologies of late puberty. Horm. Res. 36:1991;136-140.
74. Sedlmeyer I.L., Hirschhorn J.N., Palmert M.R. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J. Clin. Endocrinol. Metab. 87:2002;5581-5586.
75. Xu J., Bleecker E.R., Jongepier H., Howard T.D., Koppelman G.H., Postma D.S., Meyers D.A. Major recessive gene(s) with considerable residual polygenic effect regulating adult height: confirmation of genomewide scan results for chromosomes 6, 9, and 12. Am. J. Hum. Genet. 71:2002;646-650.
76. Jimenez-Sanchez G., Childs B., Valle D. Human disease genes. Nature. 409:2001;853-855.
77. Cox N.J., Wapelhorst B., Morrison V.A., Johnson L., Pinchuk L., Spielman R.S., Todd J.A., Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am. J. Hum. Genet. 69:2001;820-830.
78. Lander E.S., Botstein D. Mapping mendelian factors underlying quantitative traits using RFLP linkage maps. Genetics. 121:1989;185-199.
79. Sham P.C., Cherny S.S., Purcell S., Hewitt J.K. Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am. J. Hum. Genet. 66:2000;1616-1630.
80. Levy D., DeStefano A.L., Larson M.G., O'Donnell C.J., Lifton R.P., Gavras H., Cupples L.A., Myers R.H. Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension. 36:2000;477-483.
81. Altmuller J., Palmer L.J., Fischer G., Scherb H., Wjst M. Genomewide scans of complex human diseases: true linkage is hard to find. Am. J. Hum. Genet. 69:2001;936-950.
82. Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cezard J.P., Belaiche J., Almer S., Tysk C., O'Morain C.A., Gassull M., Binder V., Finkel Y., Cortot A., Modigliani R., Laurent-Puig P., Gower-Rousseau C., Macry J., Colombel J.F., Sahbatou M., Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 411:2001;599-603.
83. Ogura Y., Bonen D.K., Inohara N., Nicolae D.L., Chen F.F., Ramos R., Britton H., Moran T., Karaliuskas R., Duerr R.H., Achkar J.P., Brant S.R., Bayless T.M., Kirschner B.S., Hanauer S.B., Nunez G., Cho J.H. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 411:2001;603-606.
84. Rioux J.D., Daly M.J., Silverberg M.S., Lindblad K., Steinhart H., Cohen Z., Delmonte T., Kocher K., Miller K., Guschwan S., Kulbokas E.J., O'Leary S., Winchester E., Dewar K., Green T., Stone V., Chow C., Cohen A., Langelier D., Lapointe G., Gaudet D., Faith J., Branco N., Bull S.B., McLeod R.S., Griffiths A.M., Bitton A., Greenberg G.R., Lander E.S., Siminovitch K.A., Hudson T.J. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat. Genet. 29:2001;223-228.
85. Nistico L., Buzzetti R., Pritchard L.E., Van der Auwera B., Giovannini C., Bosi E., Larrad M.T., Rios M.S., Chow C.C., Cockram C.S., Jacobs K., Mijovic C., Bain S.C., Barnett A.H., Vandewalle C.L., Schuit F., Gorus F.K., Tosi R., Pozzilli P., Todd J.A. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum. Mol. Genet. 5:1996;1075-1080.
86. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., Rainbow D.B., Hunter K.M., Smith A.N., Di Genova G., Herr M.H., Dahlman I., Payne F., Smyth D., Lowe C., Twells R.C., Howlett S., Healy B., Nutland S., Rance H.E., Everett V., Smink L.J., Lam A.C., Cordell H.J., Walker N.M., Bordin C., Hulme J., Motzo C., Cucca F., Hess J.F., Metzker M.L., Rogers J., Gregory S., Allahabadia A., Nithiyananthan R., Tuomilehto-Wolf E., Tuomilehto J., Bingley P., Gillespie K.M., Undlien D.E., Ronningen K.S., Guja C., Ionescu-Tirgoviste C., Savage D.A., Maxwell A.P., Carson D.J., Patterson C.C., Franklyn J.A., Clayton D.G., Peterson L.B., Wicker L.S., Todd J.A., Gough S.C. Association to the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 423:2003;506-511.
87. Horikawa Y., Oda N., Cox N.J., Li X., Orho-Melander M., Hara M., Hinokio Y., Lindner T.H., Mashima H., Schwarz P.E., del Bosque-Plata L., Oda Y., Yoshiuchi I., Colilla S., Polonsky K.S., Wei S., Concannon P., Iwasaki N., Schulze J., Baier L.J., Bogardus C., Groop L., Boerwinkle E., Hanis C.L., Bell G.I. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat. Genet. 26:2000;163-175.
88. Van Eerdewegh P., Little R.D., Dupuis J., Del Mastro R.G., Falls K., Simon J., Torrey D., Pandit S., McKenny J., Braunschweiger K., Walsh A., Liu Z., Hayward B., Folz C., Manning S.P., Bawa A., Saracino L., Thackston M., Benchekroun Y., Capparell N., Wang M., Adair R., Feng Y., Dubois J., FitzGerald M.G., Huang H., Gibson R., Allen K.M., Pedan A., Danzig M.R., Umland S.P., Egan R.W., Cuss F.M., Rorke S., Clough J.B., Holloway J.W., Holgate S.T., Keith T.P. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature. 418:2002;426-430.
89. Murray J.C., Buetow K.H., Weber J.L., Ludwigsen S., Scherpbier-Heddema T., Manion F., Quillen J., Sheffield V.C., Sunden S., Duyk G.M.et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science. 265:1994;2049-2054.
90. Dib C., Faure S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E., Lathrop M., Gyapay G., Morissette J., Weissenbach J. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature. 380:1996;152-154.
91. Broman K.W., Murray J.C., Sheffield V.C., White R.L., Weber J.L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63:1998;861-869.
92. Kong A., Gudbjartsson D.F., Sainz J., Jonsdottir G.M., Gudjonsson S.A., Richardsson B., Sigurdardottir S., Barnard J., Hallbeck B., Masson G., Shlien A., Palsson S.T., Frigge M.L., Thorgeirsson T.E., Gulcher J.R., Stefansson K. A high-resolution recombination map of the human genome. Nat. Genet. 31:2002;241-247.
93. Syvanen A.C. Accessing genetic variation: genotyping single nucleotide polymorphisms. Nat. Rev. Genet. 2:2001;930-942.
94. Hirschhorn J.N., Lindgren C.M., Daly M.J., Kirby A., Schaffner S.F., Burtt N.P., Altshuler D., Parker A., Rioux J.D., Platko J., Gaudet D., Hudson T.J., Groop L.C., Lander E.S. Genome-wide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. Am. J. Hum. Genet. 69:2001;106-116.
95. Pratt S.C., Daly M.J., Kruglyak L. Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components. Am. J. Hum. Genet. 66:2000;1153-1157.
96. Perola M., Ohman M., Hiekkalinna T., Leppavuori J., Pajukanta P., Wessman M., Koskenvuo M., Palotie A., Lange K., Kaprio J., Peltonen L. Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am. J. Hum. Genet. 69:2001;117-123.
97. Deng H.W., Xu F.H., Liu Y.Z., Shen H., Deng H., Huang Q.Y., Liu Y.J., Conway T., Li J.L., Davies K.M., Recker R.R. A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. Am. J. Med. Genet. 113:2002;29-39.
98. Wiltshire S., Frayling T.M., Hattersley A.T., Hitman G.A., Walker M., Levy J.C., O'Rahilly S., Groves C.J., Menzel S., Cardon L.R., McCarthy M.I. Evidence for linkage of stature to chromosome 3p26 in a large UK. Family dataset ascertained for type 2 diabetes. Am. J. Hum. Genet. 70:2002;543-546.
99. Cardon L.R., Bell J.I. Association study designs for complex diseases. Nat. Rev. Genet. 2:2001;91-99.
100. Tabor H.K., Risch N.J., Myers R.M. Opinion: candidate-gene approaches for studying complex genetic traits: practical considerations. Nat. Rev. Genet. 3:2002;391-397.
101. Altshuler D., Kruglyak L., Lander E. Genetic polymorphisms and disease. N. Engl. J. Med. 338:1998;1626.
102. Morton N.E., Collins A. Tests and estimates of allelic association in complex inheritance. Proc. Natl. Acad. Sci. USA. 95:1998;11389-11393.
103. Ardlie K.G., Lunetta K.L., Seielstad M. Testing for population subdivision and association in four case-control studies. Am. J. Hum. Genet. 71:2002;304-311.
104. Pritchard J.K., Stephens M., Rosenberg N.A., Donnelly P. Association mapping in structured populations. Am. J. Hum. Genet. 67:2000;170-181.
105. Devlin B., Roeder K. Genomic control for association studies. Biometrics. 55:1999;997-1004.
106. Reich D.E., Goldstein D.B. Detecting association in a case-control study while correcting for population stratification. Genet. Epidemiol. 20:2001;4-16.
107. Spielman R.S., Ewens W.J. The TDT and other family-based tests for linkage disequilibrium and association. Am. J. Hum. Genet. 59:1996;983-989.
108. Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11:1995;241-247.
109. Feigelson H.S., Coetzee G.A., Kolonel L.N., Ross R.K., Henderson B.E. A polymorphism in the CYP17 gene increases the risk of breast cancer. Cancer Res. 57:1997;1063-1065.
110. Gorai I., Tanaka K., Inada M., Morinaga H., Uchiyama Y., Kikuchi R., Chaki O., Hirahara F. Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-α gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women. J. Clin. Endocrinol. Metab. 88:2003;799-803.
111. Daly M.J., Rioux J.D., Schaffner S.F., Hudson T.J., Lander E.S. High-resolution haplotype structure in the human genome. Nat. Genet. 29:2001;229-232.
112. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., Higgins J., DeFelice M., Lochner A., Faggart M., Liu-Cordero S.N., Rotimi C., Adeyemo A., Cooper R., Ward R., Lander E.S., Daly M.J., Altshuler D. The structure of haplotype blocks in the human genome. Science. 296:2002;2225-2229.
113. Patil N., Berno A.J., Hinds D.A., Barrett W.A., Doshi J.M., Hacker C.R., Kautzer C.R., Lee D.H., Marjoribanks C., McDonough D.P., Nguyen B.T., Norris M.C., Sheehan J.B., Shen N., Stern D., Stokowski R.P., Thomas D.J., Trulson M.O., Vyas K.R., Frazer K.A., Fodor S.P., Cox D.R. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science. 294:2001;1719-1723.
114. Johnson G.C., Esposito L., Barratt B.J., Smith A.N., Heward J., Di Genova G., Ueda H., Cordell H.J., Eaves I.A., Dudbridge F., Twells R.C., Payne F., Hughes W., Nutland S., Stevens H., Carr P., Tuomilehto-Wolf E., Tuomilehto J., Gough S.C., Clayton D.G., Todd J.A. Haplotype tagging for the identification of common disease genes. Nat. Genet. 29:2001;233-237.
115. Couzin J. Human genome. HapMap launched with pledges of $100 million. Science. 298:2002;941-942.