Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes

• Published in: Human molecular genetics 2021-05, Vol.30 (8), p.716-726
• Main Authors: Imamura, Minako, Takahashi, Atsushi, Matsunami, Masatoshi, Horikoshi, Momoko, Iwata, Minoru, Araki, Shin-ichi, Toyoda, Masao, Susarla, Gayatri, Ahn, Jeeyun, Park, Kyu Hyung, Kong, Jinhwa, Moon, Sanghoon, Sobrin, Lucia, Yamauchi, Toshimasa, Tobe, Kazuyuki, Maegawa, Hiroshi, Kadowaki, Takashi, Maeda, Shiro
• Format: Article
• Language: English
• Subjects: Alleles; Asian People - genetics; Association Studies; Diabetes Mellitus, Type 2 - complications; Diabetes Mellitus, Type 2 - ethnology; Diabetes Mellitus, Type 2 - genetics; Diabetic Retinopathy - ethnology; Diabetic Retinopathy - etiology; Diabetic Retinopathy - genetics; Gene Frequency; Genetic Loci - genetics; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genome-Wide Association Study - methods; Genotype; Hexosyltransferases - genetics; Humans; Japan; Membrane Proteins - genetics; Meta-Analysis as Topic; Phosphoproteins - genetics; Polymorphism, Single Nucleotide
• ISSN: 0964-6906; 1460-2083
• DOI: 10.1093/hmg/ddab044

Abstract Several reports have suggested that genetic susceptibility contributes to the development and progression of diabetic retinopathy. We aimed to identify genetic loci that confer susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes. We analysed 5 790 508 single nucleotide polymorphisms (SNPs) in 8880 Japanese patients with type 2 diabetes, 4839 retinopathy cases and 4041 controls, as well as 2217 independent Japanese patients with type 2 diabetes, 693 retinopathy cases and 1524 controls. The results of these two genome-wide association studies (GWAS) were combined with an inverse variance meta-analysis (Stage-1), followed by de novo genotyping for the candidate SNP loci (P