Common variants in the 5′ region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study

American Journal of Human Genetics

Volumn 75, Issue 2, 2004, Pages 220-230

  Jiang, Yuxin ^a   Wilk, J B ^a   Borecki, I ^c   Williamson, S ^a   DeStefano, A L ^a,b   Xu, G ^a   Liu, J ^a   Ellison, R C ^a   Province, M ^c   Myers, R H ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LEPTIN; TRANSCRIPTION FACTOR;

ADULT; AGE; AGED; ARTICLE; BINDING SITE; BODY MASS; CHROMOSOME 7Q; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; ISCHEMIC HEART DISEASE; MALE; NORMAL HUMAN; OBESITY; PEDIGREE; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; QUANTITATIVE ANALYSIS; QUANTITATIVE TRAIT; SEQUENCE HOMOLOGY; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 3242725813     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422699     Document Type: Article

References (50)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
2. Ahn SJ, Costa J, Emanuel JR (1996) PicoGreen quantitation of DNA: effective evaluation of samples pre- or post-PCR. Nucleic Acids Res 24:2623-2625
3. Allison DB, Heo M (1998) Meta-analysis of linkage data under worst-case conditions: a demonstration using the human OB region. Genetics 148:859-865
4. Atwood LD, Heard-Costa NL, Cupples LA, Fox CS, Jaquish CE, Wilson PWF, D'Agostino RB (2003) Sex and age dependent effects of chromosomal regions linked to body mass index across 28 years of the Framingham Heart Study. Paper presented at the 53rd Annual Meeting of The American Society of Human Genetics, Los Angeles, California, November 4-8
5. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J Roy Stat Soc B 57:289-300
6. Borecki IB, Higgins M, Schreiner PJ, Arnett DK, Mayer-Davis E, Hunt SC, Province MA (1998) Evidence for multiple determinants of the body mass index: the National Heart, Lung, and Blood Institute Family Heart Study. Obes Res 6:107-114
7. Bouchard C, Pérusse L, Rice T, Rao DC (1998) The genetics of human obesity. In: Bray GA, Bouchard C, James WPT (eds) Handbook of obesity. M Dekker, New York, pp 157-190
8. Carlsson B, Lindell K, Gabrielsson B, Karlsson C, Bjarnason R, Westphal O, Karlsson U, Sjostrom L, Carlsson LM (1997) Obese (ob) gene defects are rare in human obesity. Obes Res 5:30-35
9. Chagnon YC, Rankinen T, Snyder EE, Weisnagel SJ, Pérusse L, Bouchard C (2003) The human obesity gene map: the 2002 update. Obes Res 11:313-367
10. Chagnon YC, Wilmore JH, Borecki IB, Gagnon J, Pérusse L, Chagnon M, Collier GR, Leon AS, Skinner JS, Rao DC, Bouchard C (2000) Leptin receptor gene and adiposity in middle-aged Caucasian males from the HERITAGE family study. J Clin Endocrinol Metab 85:29-34
11. Clayton D (1999) A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 65:1170-1177
12. Clayton D, Jones H (1999) Transmission/disequilibrium tests for extended marker haplotypes. Am J Hum Genet 65:1161-1169
13. Comuzzie AG, Blangero J, Mahaney MC, Mitchell BD, Hixson JE, Samollow PB, Stern MP, MacCluer JW (1995) Major gene with sex-specific effects influences fat mass in Mexican Americans. Genet Epidemiol 12:475-488
14. Considine RV, Considine EL, Williams CJ, Nyce MR, Magosin SA, Bauer TL, Rosato EL, Colberg J, Caro JF (1995) Evidence against either a premature stop codon or the absence of obese gene mRNA in human obesity. J Clin Invest 95:2986-2988
15. Feitosa MF, Borecki IB, Rich SS, Arnett DK, Sholinsky P, Myers RH, Leppert M, Province MA (2002) Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: the National Heart, Lung, and Blood Institute Family Heart Study. Am J Hum Genet 70:72-82
16. Friedman JM, Halaas JL (1998) Leptin and the regulation of body weight in mammals. Nature 395:763-770
17. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgens J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
18. Gong DW, Bi S, Pratley RE, Weintraub BD (1996) Genomic structure and promoter analysis of the human obese gene. J Biol Chem 271:3971-3974
19. Hager J, Clement K, Francke S, Dina C, Raison J, Lahlou N, Rich N, Pelloux V, Basdevant A, Guy-Grand B, North M, Froguel P (1998) A polymorphism in the 5′ untranslated region of the human ob gene is associated with low leptin levels. Int J Obes Relat Metab Disord 22:200-205
20. Harris JR, Tambs K, Magnus P (1995) Sex-specific effects for body mass index in the new Norwegian twin panel. Genet Epidemiol 12:251-265
21. Holland PM, Abramson RD, Watson R, Gelfand DH (1991) Detection of specific polymerase chain reaction products by utilizing the 5′ to 3′ exonuclease activity of Thermus aquaticus DNA polymerase. Proc Natl Acad Sci USA 88:7276-7280
22. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, et al (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26:163-175
23. Horvath S, Xu X, Laird N (2001) The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306
24. Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, Ueda H, Cordell HJ, Eaves IA, Dudbridge F, Twells RC, Payne F, Hughes W, Nutland S, Stevens H, Carr P, Tuomilehto-Wolf E, Tuomilehto J, Gough SC, Clayton DG, Todd JA (2001) Haplotype tagging for the identification of common disease genes. Nat Genet 29:233-237
25. Karvonen MK, Pesonen U, Heinonen P, Laakso M, Rissanen A, Naukkarinen H, Valve R, Uusitupa MI, Koulu M (1998) Identification of new sequence variants in the leptin gene. J Clin Endocrinol Metab 83:3239-3242
26. Lander ES (1996) The new genomics: global views of biology. Science 274:536-539
27. Le Stunff C, Le Bihan C, Schork NJ, Bougneres P (2000) A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls. Diabetes 49:2196-2200
28. Li WD, Li D, Wang S, Zhang S, Zhao H, Price RA (2003) Linkage and linkage disequilibrium mapping of genes influencing human obesity in chromosome region 7q22.1-7q35. Diabetes 52:1557-1561
29. Li WD, Reed RD, Lee JH, Xu W, Kilker RL, Sodam BR, Price RA (1999) Sequence variants in the 5′ flanking region of the leptin gene are associated with obesity in women. Ann Hum Genet 63:227-234
30. Livak KJ, Flood SAJ, Marmaro J, Giusti W, Deetz K (1995) Ligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization. PCR Methods Appl 4:357-362
31. Lucantoni R, Ponti E, Berselli ME, Savia G, Minocci A, Calo G, de Medici C, Liuzzi A, Di Blasio AM (2000) The A19G polymorphism in the 5′ untranslated region of the human obese gene does not affect leptin levels in severely obese patients. J Clin Endocrinol Metab 85:3589-3591
32. Maffei M, Stoffel M, Barone M, Moon B, Dammerman M, Ravussin E, Bogardus C, et al (1996) Absence of mutations in the human OB gene in obese/diabetic subjects. Diabetes 45:679-682
33. Mammes O, Betoulle D, Aubert R, Giraud V, Tuzet S, Petiet A, Colas-Linhart N, Fumeron F (1998) Novel polymorphisms in the 5′ region of the LEP gene: association with leptin levels and response to low-calorie diet in human obesity. Diabetes 47:487-489
34. Mammes O, Betoulle D, Aubert R, Herbeth B, Siest G, Fumeron F (2000) Association of the G-2548A polymorphism in the 5′ region of the LEP gene with overweight. Ann Hum Genet 64:391-394
35. Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S (1997a) Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 387:903-908
36. Montague CT, Prins JB, Sanders L, Digby JE, O'Rahilly S (1997b) Depot- and sex-specific differences in human leptin mRNA expression: implications for the control of regional fat distribution. Diabetes 46:342-347
37. Moon BC, Friedman JM (1997) The molecular basis of the obese mutation in ob 2J mice. Genomics 42:152-156
38. Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, Kautzer CR, Lee DH, Marjoribanks C, McDonough DP, Nguyen BT, Norris MC, Sheehan JB, Shen N, Stern D, Stokowski RP, Thomas DJ, Trulson MO, Vyas KR, Frazer KA, Fodor SP, Cox DR (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719-1723
39. Peltonen L, McKusick VA (2001) Genomics and medicine: dissecting human disease in the postgenomic era. Science 291:1224-1229
40. Platte P, Papanicolaou GJ, Johnston J, Klein CM, Doheny KF, Pugh EW, Roy-Gagnon M-H, Stunkard AJ, Francomano CA, Wilson AF (2003) A study of linkage and association of body mass index in the Old Order Amish. Am J Med Genet 121C:71-80
41. Qin Z, Niu T, Liu J (2002) Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms. Am J Hum Genet 71:1242-1247
42. Rioux JD, Daly MJ, Silverberg MS, Lindblad K, Steinhart H, Cohen Z, Delmonte T, et al (2001) Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 29:223-228
43. Shigemoto M, Nishi S, Ogawa Y, Isse N, Matsuoka N, Tanaka T, Azuma N, Masuzaki H, Nishimura H, Yoshimasa Y, Hosoda K, Nakao K (1997) Molecular screening of both the promoter and the protein coding regions in the human ob gene in Japanese obese subjects with non-insulin-dependent diabetes mellitus. Eur J Endocrinol 137:511-513
44. Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, Brynjolfsson J, et al (2002) Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71:877-892
45. Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV, Harris-Kerr C, Wormley B, Sadek H, Kadambi B, Cesare AJ, Gibberman A, Wang X, O'Neill FA, Walsh D, Kendler KS (2002) Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 71:337-348
46. Strobel A, Issad T, Camoin L, Ozata M, Strosberg AD (1998) A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 18:213-215
47. Tena-Sempere M, Manna PR, Zhang FP, Pinilla L, Gonzalez LC, Dieguez C, Huhtaniemi I, Aguilar E (2001) Molecular mechanisms of leptin action in adult rat testis: potential targets for leptin-induced inhibition of steroidogenesis and pattern of leptin receptor messenger ribonucleic acid expression. J Endocrinol 170:413-423
48. Toma DP, White KP, Hirsch J, Greenspan RJ (2002) Identification of genes involved in Drosophila melanogaster geotaxis, a complex behavioral trait. Nat Genet 31:349-353
49. Wingender E, Chen X, Hehl R, Karas H, Liebich I, Matys V, Meinhardt T, Pruss M, Reuter I, Schacherer F (2000) TRANSFAC: an integrated system for gene expression regulation. Nucleic Acids Res 28:316-319
50. Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM (1994) Positional cloning of the mouse obese gene and its human homologue. Nature 372:425-432