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©2013 UpToDate ® Print Email Candidate genes and genetic polymorphisms associated with type 2 diabetes mellitus (ordered by chromosome (Chr)) Marker Chr Description Gene region Function rs10923931 1 Intronic NOTCH2 Transmembrane receptor implicated in pancreatic organogenesis rs7578597 2 Missense: T1187A THADA Thyroid adenoma; associates with PPAR Γ rs4607103 3 38 kb upstream ADAMTS9 Secreted metalloprotease expressed in muscle and pancreas rs4402960 3 Intronic IGF2BP2 Growth factor binding protein; pancreatic development rs1801282 3 Missense: P12A PPARG Transcription factor involved in adipocyte development rs10010131 4 Intron-exon junction WFS1 Endoplasmic reticulum transmembrane protein rs7754840 6 Intronic CDKAL1 Homologous to CDK5RAP1, CDK5 inhibitor; islet glucotoxicity sensor rs864745 7 Intronic JAZF1 Transcriptional repressor; associated with prostate cancer rs13266634 8 Missense: R325W SLC30A8 & β -cell zinc transporter ZnT8; insulin storage and secretion rs10811661 9 125 kb upstream CDKN2A/B Cyclin-dependent kinase inhibitor and p15 tumor suppressor; islet development rs12779790 10 Intergenic region CDC123-CAMK1D Cell cycle/protein kinase rs7903146 10 Intronic TCF7L2 Transcription factor; transactivates proglucagon and insulin genes rs1111875 10 7.7 kb downstream HHEX Transcription factor involved in pancreatic development rs5219 11 Missense: E23K KCNJ11 Kir6.2 potassium channel; risk allele impairs insulin secretion rs7961581 12 Intronic TSPAN8-LGR5 Cell surface glycoprotein implicated in GI cancers rs8050136 16 Intronic FTO Alters BMI in general population rs757210 17 Intronic HNF1B Transcription factor involved in pancreatic development Reproduced with permission from: Florez JC. The genetics of type 2 diabetes: A realistic appraisal in 2008. J Clin Endocrine Metab 2008; 93:4633. file://jcem.endojournals.org/. Copyright © 2008 The Endocrine Society.