A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA

• DOI: 10.1371/journal.pone.0111715
• Publication Date: 2014-11-03T18:56:03Z
• Authors: Takuya Awata; Hisakuni Yamashita; Susumu Kurihara; Tomoko Morita-Ohkubo; Yumi Miyashita; Shigehiro Katayama; Keisuke Mori; Shin Yoneya; Masakazu Kohda; Yasushi Okazaki; Taro Maruyama; Akira Shimada; Kazuki Yasuda; Nao Nishida; Katsushi Tokunaga; Asako Koike
• Keywords: Genome-wide Association Study; Intergenic region; Genetic Association; Genetic predisposition

Elucidation of the genetic susceptibility factors for diabetic retinopathy (DR) is important to gain insight into pathogenesis DR, and may help define risk this condition. In present study, we conducted a three-stage genome-wide association study (GWAS) identify DR loci in Japanese patients, which comprised total 837 type 2 diabetes patients with (cases) 1,149 without (controls). From stage 1 scan 446 subjects (205 cases 241 controls) on 614,216 SNPs, 249 SNPs were selected replication 623 (335 288 controls). Eight further followed up 3 297 620 controls. The top signal from analysis was rs9362054 an intron RP1-90L14.1 showing borderline significance (Pmet = 1.4×10−7, meta-analysis 2, allele model). long intergenic non-coding RNA (lincRNA) adjacent KIAA1009/QN1/CEP162 gene; CEP162 plays critical role ciliary transition zone formation before ciliogenesis. raises possibility that dysregulation ciliary-associated genes DR.