Proliferative diabetic retinopathy (PDR) is a sight-threatening complication of diabetes that is associated with longer duration of diabetes and poor glycemic control under a genetic susceptibility background. Although GWAS of PDR have been conducted in Europeans and Asians, none has been done in continental Africans, a population at increased risk for PDR. Here, we report a GWAS of PDR among Africans. PDR cases (n = 64) were T2D patients with neovascularization in the retina and/or retinal detachment. Controls (n = 227) were T2D patients without listed eye complications despite high risk (T2D duration = 10 years and fasting blood glucose > 169 mg/dl). Replication was assessed in African Americans enrolled in the ARIC study. We identified 4 significant loci: WDR72, HLA-B, GAP43/RP11-326J18.1, and AL713866.1. At WDR72 the most strongly associated SNPs were rs12906891 (MAF = 0.071; p = 9.68 x 10-10; OR = 1.46, 95% CI [1.30,1.64]) and rs11070992 (MAF = 0.14; p = 4.23 x 10(-8); OR = 1.28, 95% CI [1.17-1.40]). rs11070992 replicated in African Americans (p = 0.04). Variants in this gene have been associated with diabetic retinopathy, glycemic control, revascularization, and kidney disease.
基金：
Intramural Research Program of the Center for
Research on Genomics and Global Health (CRGGH). The CRGGH is supported by the
National Human Genome Research Institute, the National Institute of Diabetes and
Digestive and Kidney Diseases, the Center for Information Technology, and the Office
of the Director at the National Institutes of Health (1ZIAHG200362)
第一作者机构：[1]NHGRI, Ctr Res Genom & Global Hlth, NIH, Bethesda, MD 20892 USA[2]Capital Med Univ, Beijing Tongren Hosp, Dept Endocrinol, Beijing 10730, Peoples R China[3]Beijing Diabet Inst, Beijing 100730, Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Liu Chang,Chen Guanjie,Bentley Amy R.,et al.Genome-wide association study for proliferative diabetic retinopathy in Africans[J].NPJ GENOMIC MEDICINE.2019,4:doi:10.1038/s41525-019-0094-7.
APA：
Liu, Chang,Chen, Guanjie,Bentley, Amy R.,Doumatey, Ayo,Zhou, Jie...&Rotimi, Charles.(2019).Genome-wide association study for proliferative diabetic retinopathy in Africans.NPJ GENOMIC MEDICINE,4,
MLA：
Liu, Chang,et al."Genome-wide association study for proliferative diabetic retinopathy in Africans".NPJ GENOMIC MEDICINE 4.(2019)
