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. 2019 Aug 29:4:20.
doi: 10.1038/s41525-019-0094-7. eCollection 2019.

Genome-wide association study for proliferative diabetic retinopathy in Africans

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Genome-wide association study for proliferative diabetic retinopathy in Africans

Chang Liu et al. NPJ Genom Med. .

Abstract

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 × 10-10; OR = 1.46, 95% CI [1.30,1.64]) and rs11070992 (MAF = 0.14; p = 4.23 × 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.

Keywords: Diabetes complications; Genome-wide association studies.

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Conflict of interest statement

Competing interestsThe authors declare no competing interests.

Figures

Fig. 1
Fig. 1
GWAS Manhattan plot for PDR in the AADM study. The dotted line represents −log10 (5 × 10−8)
Fig. 2
Fig. 2
Regional plots for association and conditional analyses on rs11070992 in WDR72, using AFR from 1000 Genomes data as an LD reference. On the left y-axis is the -log10(p-value) for each SNP genotyped. On the right y-axis are the recombination rates estimated from the 1000 genome project. The annotated genes in the region are indicated along the bottom of the figure. Panels show the regional associations before (a) and after (b) adjusting for rs11070992

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