A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA

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...

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Bibliographic Details
Published in:PloS one 2014-11, Vol.9 (11), p.e111715-e111715
Main Authors: Awata, Takuya, Yamashita, Hisakuni, Kurihara, Susumu, Morita-Ohkubo, Tomoko, Miyashita, Yumi, Katayama, Shigehiro, Mori, Keisuke, Yoneya, Shin, Kohda, Masakazu, Okazaki, Yasushi, Maruyama, Taro, Shimada, Akira, Yasuda, Kazuki, Nishida, Nao, Tokunaga, Katsushi, Koike, Asako
Format: Article
Language:English
Subjects:
Adult
Aged
Analysis
Association analysis
Biology and Life Sciences
Cilia - genetics
Diabetes
Diabetes mellitus
Diabetes therapy
Diabetic retinopathy
Diabetic Retinopathy - genetics
Endocrinology
Ethics
Female
Genes
Genetic Predisposition to Disease
Genetics
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genomics
Glucose
Hemoglobin
Hispanic Americans
Hospitals
Humans
Hyperglycemia
Internal medicine
Japan
Laboratories
Male
Medicine
Medicine and Health Sciences
Meta-analysis
Metabolism
Middle Aged
Non-coding RNA
Pathogenesis
Patients
Polymorphism, Single Nucleotide
Proteins
Retinopathy
Ribonucleic acid
Risk analysis
Risk factors
RNA
RNA, Long Noncoding - genetics
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Studies
Type 2 diabetes
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0111715