Journal
HUMAN MOLECULAR GENETICS
Volume 22, Issue 15, Pages 3165-3173Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddt161
Keywords
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Funding
- National Eye Institute of the National Institutes of Health [EY014684, DK079888]
- ARRA Supplement [EY014684-03S1, EY014684-04S1]
- National Institute of Diabetes and Digestive and Kidney Disease [DK063491]
- Eye Birth Defects Foundation Inc.
- Cedars-Sinai Winnick Clinical Scholars Award
- Cedars-Sinai Board of Governors' Chair in Medical Genetics
- National Science Council, Taiwan [NSC 98-2314-B-075A-002-MY3]
- Taichung Veterans General Hospital, Taichung, Taiwan [TCVGH-1003001C]
- National Center for Research Resources [UL1RR033176]
- National Center for Advancing Translational Sciences, CTSI [UL1TR000124]
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Diabetic retinopathy (DR) is a leading cause of preventable blindness in adults. To identify genetic contributions in DR, we studied 2071 type 2 diabetics. We first conducted a genome-wide association study of 1007 individuals, comparing 570 subjects with 8 years duration without DR (controls) with 437 PDR (cases) in the Chinese discovery cohort. Cases and controls were similar for HbA1c, diabetes duration and body mass index. Association analysis with imputed data identified three novel loci: TBC1D4-COMMD6-UCHL3 (rs9565164, P 1.3 10(7)), LRP2-BBS5 (rs1399634, P 2.0 10(6)) and ARL4C-SH3BP4 (rs2380261, P 2.1 10(6)). Analysis of an independent cohort of 585 Hispanics diabetics with or without DR though did not confirm these signals. These genes are still of particular interest because they are involved in insulin regulation, inflammation, lipid signaling and apoptosis pathways, all of which are possibly involved with DR. Our finding nominates possible novel loci as potential DR susceptibility genes in the Chinese that are independent of the level of HbA1c and duration of diabetes and may provide insight into the pathophysiology of DR.
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