| Literature DB >> 18602983 |
J L Bento1, N D Palmer, M Zhong, B Roh, J P Lewis, M R Wing, H Pandya, B I Freedman, C D Langefeld, S S Rich, D W Bowden, J C Mychaleckyj.
Abstract
Human chromosome 20q12-q13.1 has been linked to type 2 diabetes mellitus (T2DM) in multiple studies. We screened a 5.795-Mb region for diabetes-related susceptibility genes in a Caucasian cohort of 310 controls and 300 cases with T2DM and end-stage renal disease (ESRD), testing 390 SNPs for association with T2DM-ESRD. The most significant SNPs were found in the perigenic regions: HNF4A (hepatocyte nuclear factor 4alpha), SLC12A5 (potassium-chloride cotransporter member 5), CDH22 (cadherin-like 22), ELMO2 (engulfment and cell motility 2), SLC13A3 (sodium-dependent dicarboxylate transporter member 3), and PREX1 (phosphatidylinositol 3,4,5-triphosphate-dependent RAC exchanger 1). Haplotype analysis found six haplotype blocks globally associated with disease (p<0.05). We replicated the PREX1 SNP association in an independent case-control T2DM population and inferred replication of CDH22, ELMO2, SLC13A3, SLC12A5, and PREX1 using in silico perigenic analysis of two T2DM Genome-Wide Association Study data sets. We found substantial heterogeneity between study results.Entities:
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Year: 2008 PMID： 18602983 PMCID： PMC2583938 DOI： 10.1016/j.ygeno.2008.06.004
Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736