The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

PLoS Genetics

Volumn 3, Issue 4, 2007, Pages 0627-0633

  Lyon, Helen N ^a,b,c   Emilsson, Valur ^d   Hinney, Anke ^e   Heid, Iris M ^f,g   Lasky Su, Jessica ^h,i   Zhu, Xiaofeng ^j   Thorleifsson, Gudmar ^d   Gunnarsdottir, Steinunn ^d   Walters, G Bragi ^d   Thorsteinsdottir, Unnur ^d   Kong, Augustine ^d   Gulcher, Jeffrey ^d   Nguyen, Thuy Trang ^k   Scherag, André ^k   Pfeufer, Arne ^f,l   Meitinger, Thomas ^f,l   Brönner, Günter ^e   Rief, Winfried ^k   Soto Quiros, Manuel E ^m   Avila, Lydiana ^m   Klanderman, Barbara ^h   Raby, Benjamin A ^h   Silverman, Edwin K ^h   Weiss, Scott T ^h   Laird, Nan ^h   Ding, Xiao ^h   Groop, Leif ^n,o,p   Tuomi, Tiinamaija ^o,p,q   Isomaa, Bo ^q   Bengtsson, Kristina ^o,p   Butler, Johannah L ^a,b   Cooper, Richard S ^r   Fox, Caroline S ^s   O'Donnell, Christopher J ^s   Vollmert, Caren ^f   Celedón, Juan C ^h   Wichmann, H Erich ^f,g   Hebebrand, Johannes ^e   Stefansson, Kari ^d   Lange, Christoph ^h   Hirschhorn, Joel N ^a,b,c   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d DECODE GENETICS   (Iceland)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

^f INSTITUTE OF EPIDEMIOLOGY   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁱ SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^j CASE WESTERN RESERVE UNIVERSITY   (United States)

^k PHILIPPS UNIVERSITY MARBURG   (Germany)

^l TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^m HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

ⁿ LUND UNIVERSITY HOSPITAL   (Sweden)

^o HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^p UNIVERSITY OF HELSINKI   (Finland)

^q FOLKHÄLSAN RESEARCH CENTER   (Finland)

^r LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

^s FRAMINGHAM HEART STUDY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BODY MASS; COHORT ANALYSIS; CONTROLLED STUDY; ETHNICITY; FAMILY STUDY; FEMALE; GENE; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INSIG2 GENE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OBESITY; POPULATION BASED CASE CONTROL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; AGED; CHILD; CLINICAL TRIAL; GENE FREQUENCY; GENETIC LINKAGE; GENETICS; MIDDLE AGED; MULTICENTER STUDY;

INSIG2 PROTEIN, HUMAN; MEMBRANE PROTEIN; SIGNAL PEPTIDE; UNCLASSIFIED DRUG;

ADULT; AGED; BODY MASS INDEX; CHILD; COHORT STUDIES; FEMALE; GENE FREQUENCY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34247576412     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.0030061     Document Type: Article

References (39)

1. Barsh GS, Farooqi IS, O'Rahilly S (2000) Genetics of body-weight regulation. Nature 404: 644-651.
2. Kopelman PG (2000) Obesity as a medical problem. Nature 404: 635-643.
3. Allison DB, Faith MS, Nathan JS (1996) Risch's lambda values for human obesity [comment]. Int J Obes Relat Metab Disord 20: 990-999.
4. Allison DB, Kaprio J, Korkeila M, Koskenvuo M, Neale MC, et al. (1996) The heritability of body mass index among an international sample of monozygotic twins reared apart. Int J Obes Relat Metab Disord 20: 501-506.
5. Rankinen T, Zuberi A, Chagnon YC, Weisnagel SJ, Argyropoulos G, et al. (2006) The human obesity gene map: The 2005 update. Obesity (Silver Spring) 14: 529-644.
6. Clayton DG, Walker NM, Smyth DJ, Pask R, Cooper JD, et al. (2005) Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat Genet 37: 1243-1246.
7. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33: 177-182.
8. Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, et al. (2006) A common genetic variant is associated with adult and childhood obesity. Science 312: 279-283.
9. Gong Y, Lee JN, Brown MS, Goldstein JL, Ye J (2006) Juxtamembranous aspartic acid in Insig-1 and Insig-2 is required for cholesterol homeostasis. Proc Natl Acad Sci U S A 103: 6154-6159.
10. Engelking LJ, Liang G, Hammer RE, Takaishi K, Kuriyama H, et al. (2005) Schoenheimer effect explained-feedback regulation of cholesterol synthesis in mice mediated by Insig proteins. J Clin Invest 115: 2489-2498.
11. Yabe D, Brown MS, Goldstein JL (2002) Insig-2, a second endoplasmic reticulum protein that binds SCAP and blocks export of sterol regulatory element-binding proteins. Proc Natl Acad Sci U S A 99: 12753-12758.
12. Takaishi K, Duplomb L, Wang MY, Li J, Unger RH (2004) Hepatic insig-1 or -2 overexpression reduces lipogenesis in obese Zucker diabetic fatty rats and in fasted/refed normal rats. Proc Natl Acad Sci U S A 101: 7106-7111.
13. Deng HW, Deng H, Liu YJ, Liu YZ, Xu FH, et al. (2002) A genomewide linkage scan for quantitative-trait loci for obesity phenotypes. Am J Hum Genet 70: 1138-1151.
14. Dina C, Meyre D, Samson C, Tichet J, Marre M, et al. (2007) Comment on "A common genetic variant is associated with adult and childhood obesity." Science 315: 187; author reply 187.
15. Loos RJ, Barroso I, O'Rahilly S, Wareham NJ (2007) Comment on "A common genetic variant is associated with adult and childhood obesity." Science 315: 187; author reply 187.
16. Rosskopf D, Bornhorst A, Rimmbach C, Schwahn C, Kayser A, et al. (2007) Comment on "A common genetic variant is associated with adult and childhood obesity." Science 315: 187; author reply 187.
17. Hall DH, Rahman T, Avery PJ, Keavney B (2006) INSIG-2 promoter polymorphism and obesity related phenotypes: Association study in 1428 members of 248 families. BMC Med Genet 7: 83.
18. Lange C, DeMeo D, Silverman EK, Weiss ST, Laird NM (2004) PBAT: Tools for family-based association studies. Am J Hum Genet 74: 367-369.
19. Breslow NE, Day NE (1980) Statistical methods in cancer research. Volume I - The analysis of case-control studies. IARC Sci Publ: 5-338.
20. Tarone RE (1985) On heterogeneity tests based on efficient scores. Biometrika 72: 91-95.
21. Flegal KM, Carroll MD, Ogden CL, Johnson CL (2002) Prevalence and trends in obesity among US adults, 1999-2000. JAMA 288: 1723-1727.
22. Heid IM, Vollmert C, Hinney A, Doring A, Geller F, et al. (2005) Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J Med Genet 42: e21.
23. Gulcher JR, Stefansson K (2000) The Icelandic Healthcare Database and informed consent. N Engl J Med 342: 1827-1830.
24. Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, et al. (2006) Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38: 320-323.
25. Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, et al. (2005) A common inversion under selection in Europeans. Nat Genet 37: 129-137.
26. Wichmann HE, Gieger C, Illig T (2005) KORA-gen-resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67 Suppl 1: S26-S30.
27. Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP (1979) An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol 110: 281-290.
28. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, et al. (2002) The structure of haplotype blocks in the human genome. Science 296: 2225-2229.
29. Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, et al. (2006) Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes 55.
30. Tang K, Fu D, Kotter S, Cotter RJ, Cantor CR, et al. (1995) Matrix-assisted laser desorption/ionization mass spectrometry of immobilized duplex DNA probes. Nucleic Acids Res 23: 3126-3131.
31. Hinney A, Bettecken T, Tarnow P, Brumm H, Reichwald K, et al. (2006) Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. J Clin Endocrinol Metab 91: 1761-1769.
32. Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, et al. (2003) Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica. Hum Genet 112: 534-541.
33. Service SK, Ophoff RA, Freimer NB (2001) The genome-wide distribution of background linkage disequilibrium in a population isolate. Hum Mol Genet 10: 545-551.
34. Hunninghake GM, Soto-Quiros ME, Avila L, Ly NP, Liang C, et al. (2006) Sensitization to Ascaris and Severity of Childhood Asthma in Costa Rica. J Allergy Clin Immunol 119: 654-61.
35. CAMP GR (1999) The Childhood Asthma Management Program (CAMP): Design, rationale, and methods. Childhood Asthma Management Program Research Group. Control Clin Trials 20: 91-120.
36. Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, et al. (2005) Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes 54: 886-892.
37. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, et al. (2000) The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26: 76-80.
38. Laird NM, Horvath S, Xu X (2000) Implementing a unified approach to family-based tests of association. Genet Epidemiol 19 Suppl 1: S36-S42.
39. Fisher RA (1925) Statistical methods for research workers. In: Oa L, editor. Edinburgh: Oliver and Boyd. 239 p.