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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Journal article published in 2010 by Benjamin F. Voight, Laura J. Scott, Andrew P. Morris, Ryan P. Welch, Yurii S. Aulchenko, Laura J. McCulloch, Valgerdur Steinthorsdottir, Voight Bf, Mandy van Hoek, Harald Grallert, Najaf Amin, Guanming M. Wu, Cristen J. Willer, Soumya Raychaudhuri, Steve A. McCarroll and other authors.
This paper is available in a repository.
This paper is available in a repository.

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By combining genome-wide association data from 8,130 individuals with type 2 diabetes (T2D) and 38,987 controls of European descent and following up previously unidentified meta-analysis signals in a further 34,412 cases and 59,925 controls, we identified 12 new T2D association signals with combined P<5x10(-8). These include a second independent signal at the KCNQ1 locus; the first report, to our knowledge, of an X-chromosomal association (near DUSP9); and a further instance of overlap between loci implicated in monogenic and multifactorial forms of diabetes (at HNF1A). The identified loci affect both beta-cell function and insulin action, and, overall, T2D association signals show evidence of enrichment for genes involved in cell cycle regulation. We also show that a high proportion of T2D susceptibility loci harbor independent association signals influencing apparently unrelated complex traits.