Biochemical Genetics

, Volume 50, Issue 3–4, pp 159–179 | Cite as

Worldwide Distribution of Type II Diabetes-Associated TCF7L2 SNPs: Evidence for Stratification in Europe



Type II diabetes is a multifactorial disease with a complex etiology. Numerous genes have been implicated in disease pathogenesis. In particular, SNPs at the TCF7L2 locus have consistently shown strong associations with type II diabetes. This study characterizes the global distribution of type II diabetes-associated TCF7L2 SNPs utilizing HapMap, HGDP–CEPH, and Alfred databases and the literature. High frequencies of rs7903146(T), rs12255372(T), and rs7901695(C) SNPs are observed in Africa, Europe, and the Middle East, but they are reduced and almost absent in Southeast Asian and Native American populations. In contrast, rs11196218(A) has the highest frequency in Eurasia but is reduced in sub-Saharan African and Native American populations. Regional variations in rs7903146(T) follow a gradient of decreasing frequency from southern into northeastern Europe. These findings demonstrate extensive global and regional variations in the frequencies of TCF7L2 SNPs, which may contribute to differences in the incidence of type II diabetes worldwide.


Diabetes TCF7L2 gene Europe Genetic gradient Natural selection 


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© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.DublinIreland

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