Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema

Diabetic retinopathy (DR) is a common complication of diabetes. Approximately 20% of DR patients have diabetic macular edema (DME) characterized by fluid leakage into the retina. There is a genetic component to DR and DME risk, but few replicable loci. Because not all DR cases have DME, we focused o...

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Veröffentlicht in:PLoS genetics 2023-08, Vol.19 (8), p.e1010609-e1010609
Hauptverfasser: Stockwell, Amy D, Chang, Michael C, Mahajan, Anubha, Forrest, William, Anegondi, Neha, Pendergrass, Rion K, Selvaraj, Suresh, Reeder, Jens, Wei, Eric, Iglesias, Victor A, Creps, Natalie M, Macri, Laura, Neeranjan, Andrea N, van der Brug, Marcel P, Scales, Suzie J, McCarthy, Mark I, Yaspan, Brian L
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Sprache:eng
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Zusammenfassung:Diabetic retinopathy (DR) is a common complication of diabetes. Approximately 20% of DR patients have diabetic macular edema (DME) characterized by fluid leakage into the retina. There is a genetic component to DR and DME risk, but few replicable loci. Because not all DR cases have DME, we focused on DME to increase power, and conducted a multi-ancestry GWAS to assess DME risk in a total of 1,502 DME patients and 5,603 non-DME controls in discovery and replication datasets. Two loci reached GWAS significance (p
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1010609