Key result
The rs9362054 variant in the long intergenic non-coding RNA RP1-90L14.1 showed borderline genome-wide significant association with diabetic retinopathy (OR 1.64, p=1.4x10^-7).
Why the study?
What genetic susceptibility loci are associated with diabetic retinopathy in Japanese patients with type 2 diabetes?
Case-Control (n=1,986)
Yes
What genetic susceptibility loci are associated with diabetic retinopathy in Japanese patients with type 2 diabetes?
The SNP rs9362054 in the lincRNA RP1-90L14.1 showed borderline genome-wide significance for association with diabetic retinopathy in Japanese patients, suggesting a potential role for ciliary-associated gene dysregulation.
Answers are grounded in this paper and cite their sources.
Highlights genetic contributors to DR in Japanese T2D; leaves open validation and clinical translation.
Elucidation of the genetic susceptibility factors for diabetic retinopathy (DR) is important to gain insight into the pathogenesis of DR, and may help to define genetic risk factors for this condition. In the present study, we conducted a three-stage genome-wide association study (GWAS) to identify DR susceptibility loci in Japanese patients, which comprised a total of 837 type 2 diabetes patients with DR (cases) and 1,149 without DR (controls). From the stage 1 genome-wide scan of 446 subjects (205 cases and 241 controls) on 614,216 SNPs, 249 SNPs were selected for the stage 2 replication in 623 subjects (335 cases and 288 controls). Eight SNPs were further followed up in a stage 3 study of 297 cases and 620 controls. The top signal from the present association analysis was rs9362054 in an intron of RP1-90L14.1 showing borderline genome-wide significance (Pmet = 1.4×10(-7), meta-analysis of stage 1 and stage 2, allele model). RP1-90L14.1 is a long intergenic non-coding RNA (lincRNA) adjacent to KIAA1009/QN1/CEP162 gene; CEP162 plays a critical role in ciliary transition zone formation before ciliogenesis. The present study raises the possibility that the dysregulation of ciliary-associated genes plays a role in susceptibility to DR.
No takes yet. Share an insight, caveat, or question.
Awata et al. (2014) conducted a case-control in Diabetic Retinopathy (n=1,986). rs9362054 variant in RP1-90L14.1 vs. Reference allele was evaluated on Association with diabetic retinopathy (Stage 1 and 2 meta-analysis) (OR 1.64, p=1.4x10^-7). The rs9362054 variant in the long intergenic non-coding RNA RP1-90L14.1 showed borderline genome-wide significant association with diabetic retinopathy (OR 1.64, p=1.4x10^-7).
Synapse has enriched 10 related papers. Consider them for comparative context: