Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution

Nature Genetics

Volumn 39, Issue 2, 2007, Pages 218-225

  Helgason, Agnar ^a   Pálsson, Snæbjörn ^a,b   Thorleifsson, Gudmar ^a   Grant, Struan F A ^a,m   Emilsson, Valur ^a   Gunnarsdottir, Steinunn ^a   Adeyemo, Adebowale ^c   Chen, Yuanxiu ^c   Chen, Guanjie ^c   Reynisdottir, Inga ^a   Benediktsson, Rafn ^d,e   Hinney, Anke ^f   Hansen, Torben ^g   Andersen, Gitte ^g   Borch Johnsen, Knut ^g,h   Jorgensen, Torben ⁱ   Schäfer, Helmut ^j   Faruque, Mezbah ^c   Doumatey, Ayo ^c   Zhou, Jie ^c   Wilensky, Robert L ^k   Reilly, Muredach P ^k   Rader, Daniel J ^k   Bagger, Yu ^l   Christiansen, Claus ^l   Sigurdsson, Gunnar ^d,e   Hebebrand, Johannes ^f   Pedersen, Oluf ^g,h   Thorsteinsdottir, Unnur ^a   Gulcher, Jeffrey R ^a   Kong, Augustine ^a   Rotimi, Charles ^c   Stefánsson, Kári ^a   more..

^a DECODE GENETICS   (Iceland)

^b UNIVERSITY OF ICELAND   (Iceland)

^c HOWARD UNIVERSITY HOSPITAL   (United States)

^d ICELANDIC HEART ASSOCIATION   (Iceland)

^e LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g STENO DIABETES CENTER   (Denmark)

^h AARHUS UNIVERSITY   (Denmark)

ⁱ GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^j PHILIPPS UNIVERSITY MARBURG   (Germany)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l CENTER FOR CLINICAL AND BASIC RESEARCH   (Denmark)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GHRELIN; LEPTIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR 7 LIKE 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AFRICA; ARTICLE; ASIA; BODY MASS; CONTROLLED STUDY; EUROPE; FEMALE; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUNGER; ICELAND; MAJOR CLINICAL STUDY; MALE; MOLECULAR EVOLUTION; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION GENETICS; PRIORITY JOURNAL; SATIETY; SINGLE NUCLEOTIDE POLYMORPHISM;

AFRICAN CONTINENTAL ANCESTRY GROUP; ASIAN CONTINENTAL ANCESTRY GROUP; BODY MASS INDEX; CASE-CONTROL STUDIES; DIABETES MELLITUS, TYPE 2; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ICELAND; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK; SELECTION (GENETICS); TCF TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 33846596193     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1960     Document Type: Article

References (30)

1. Grant, S.F.A. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat. Genet. 38, 320-323 (2006).
2. Rotimi, C.N. et al. In search of susceptibility genes for type 2 diabetes in West Africa: the design and results of the first phase of the AADM study. Ann. Epidemiol. 11, 51-58 (2001).
3. Florez, J.C. et al. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N. Engl. J. Med. 355, 241-250 (2006).
4. Groves, C.J. et al. Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes 55, 2640-2644 (2006).
5. Sabeti, P.C. et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419, 832-837 (2002).
6. Schaffner, S.F. et al. Calibrating a coalescent simulation of human genome sequence variation. Genome Res. 15, 1576-1583 (2005).
7. Slatkin, M. & Bertorelle, G. The use of intraallelic variability for testing neutrality and estimating population growth rate. Genetics 158, 865-874 (2001).
8. Voight, B.F., Kudaravalli, S., Wen, X. & Pritchard, J.K. A map of recent positive selection in the human genome. PLoS Biol. 4, e72 (2006).
9. Cavalli-Sforza, L.L., Menozzi, P. & Piazza, A. The History and Geography of Human Genes (Princeton Univ. Press, Princeton, New Jersey, 1994).
10. O'Rahilly, S., Barroso, I. & Wareham, N.J. Genetic factors in type 2 diabetes: the end of the beginning? Science 307, 370-373 (2005).
11. Arora, S. & Anubhuti. Role of neuropeptides in appetite regulation and obesity: a review. Neuropeptides 40, 375-401 (2006).
12. Erdmann, J., Lippl, F., Wagenpfeil, S. & Schusdziarra, V. Differential association of basal and postprandial plasma ghrelin with leptin, insulin, and type 2 diabetes. Diabetes 54, 1371-1378 (2005).
13. Neel, J.V. Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? Am. J. Hum. Genet. 14, 353-362 (1962).
14. Dempster, A.P., Laird, N.M. & Rubin, D.B. Maximum likelihood from incomplete data via EM algorithm. J. R. Stat. Soc. Ser. B Methodol. 39, 1-38 (1977).
15. The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
16. Adeyemo, A.A., Chen, G., Chen, Y. & Rotimi, C. Genetic structure in four West African population groups. BMC Genet. 6, 38 (2005).
17. Andersen, G. et al. Studies of the association of the GNB3 825C>T polymorphism with components of the metabolic syndrome in white Danes. Diabetologia 49, 75-82 (2006).
18. Hinney, A. et al. Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. J. Clin. Endocrinol. Metab. 88, 4258-4267 (2003).
19. Jonsdottir, L.S., Sigfusson, N., Gudnason, V., Sigvaldason, H. & Thorgeirsson, G. Do lipids, blood pressure, diabetes, and smoking confer equal risk of myocardial infarction in women as in men? The Reykjavik Study. J. Cardiovasc. Risk 9, 67-76 (2002).
20. Amundadottir, L.T. et al. A common variant associated with prostate cancer in European and African populations. Nat. Genet. 38, 652-658 (2006).
21. Falk, C.T. & Rubinstein, P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann. Hum. Genet. 51, 227-233 (1987).
22. Mantel, N. & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 22, 719-748 (1959).
23. Gretarsdottir, S. et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat. Genet. 35, 131-138 (2003).
24. Beaumont, M.A. & Nichols, R.A. Evaluating loci for use in the genetic analysis of population structure. Proc. R. Soc. Lond. B 263, 1619-1626 (1996).
25. Excoffier, L., Smouse, P.E. & Quattro, J.M. Analysis of molecular variance inferred from metric distances among DNA haplotypes - Application to human mitochondrial-DNA restriction data. Genetics 131, 479-491 (1992).
26. Teshima, K.M., Coop, G. & Przeworski,M. How reliable are empirical genomic scans for selective sweeps? Genome Res. 16, 702-712 (2006).
27. Laval, G. & Excoffier, L. SIMCOAL 2.0: a program to simulate genomic diversity over large recombining regions in a subdivided population with a complex history. Bioinformatics 20, 2485-2487 (2004).
28. McVean, G., Awadalla, P. & Fearnhead, P. A coalescent-based method for detecting and estimating recombination from gene sequences. Genetics 160, 1231-1241 (2002).
29. Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241-247 (2002).
30. Bandelt, H.J., Forster, P. & Rohl, A. Median-joining networks for inferring intraspecific phylogenies. Mol. Biol. Evol. 16, 37-48 (1999).