Original articleGenome-wide Association Study of Diabetic Retinopathy in a Taiwanese Population
Section snippets
Subjects
The study involved 749 unrelated individuals with T2D over the age of 20 years, who were recruited from the China Medical University Hospital, Taichung, Taiwan. Subjects were diagnosed using the American Diabetic Association Criteria. Subjects with type 1 diabetes, gestational diabetes, or maturity-onset diabetes of the young were excluded from this study. Of this group, 174 T2D subjects were diagnosed with DR: 102 (58.6%) with nonproliferative DR (NPDR) and 72 (41.4%) with proliferative DR
Results
We conducted a genome-wide association study to identify genetic variants for DR in T2D Han Chinese residing in Taiwan. We genotyped 749 T2D patients (174 with DR and 575 without DR) and 100 nondiabetic controls using Illumina HumanHap550-Duo BeadChips. The demographic and clinical characteristics of the previously mentioned groups are summarized in Table 1. Subjects without DR were of a significantly younger age at the time of study and diagnosis and had a shorter disease duration, lower HbA1C
Discussion
Herein, we have described the results of a genome-wide association study designed to identify loci associated with the risk of DR in subjects with T2D. Significant associations were identified in regions of chromosomes 1, 5, 10, and 13 after controlling for diabetes duration and HbA1C levels. The results implicate MYSM1, PLXDC2, ARHGAP22, HS6ST3, and an unknown gene on chromosome 5q as being involved in the pathogenesis of DR, and particularly, with the exception ARHGAP22, in NPDR, although the
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Cited by (0)
Manuscript no. 2010-181.
Supported by China Medical University Hospital, Taichung, Taiwan (DMR92-076 and DMR93-017), and the National Research Program for Genomic Medicine from National Science Council, Taipei, Taiwan, as well as the National Clinical Core for Genomic Medicine at Academia Sinica, Taipei, Taiwan (NSC96-3112-B-001-010).
Financial Disclosure(s): The authors have no proprietary or commercial interest in any of the materials discussed in this article.