Gender specific association of a complement component 3 polymorphism with polypoidal choroidal vasculopathy
Publication in refereed journal


引用次數
替代計量分析
.

其它資訊
摘要Neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are leading causes of irreversible blindness in developed countries. In this study, we investigated the associations of haplotype-tagging single nucleotide polymorphisms (SNPs) in the complement component 3 (C3) gene with both neovascular AMD and PCV, and potential epistatic effects on C3. Eight tagging SNPs in C3 were genotyped in 708 unrelated study subjects: 200 neovascular AMD patients, 233 PCV patients and 275 controls. Among the eight C3 SNPs, rs17030 was associated with PCV after adjusted for gender and SNP-gender interaction (P=0.008, OR=2.94; 95% CI: 1.32-6.52). Moreover, an interaction between rs17030 and gender was identified in PCV (P=0.02). After stratification by gender, the rs17030 G allele was found to confer an increased risk for PCV in male (P=0.010, OR=1.56) but not in female. The haplotype AG defined by the major alleles of rs17030 and rs344555 was also associated with PCV in male (P=0.010, OR=0.64). In contrast to PCV, none of the eight SNPs was significantly associated with neovascular AMD. This study shows an association of C3 rs17030 with PCV in male, indicating that C3 may have an epistatic effect with gender in the pathogenesis of PCV.
著者Liu K, Lai TYY, Chiang SWY, Chan VCK, Young AL, Tam POS, Pang CP, Chen LJ
期刊名稱Scientific Reports
出版年份2014
月份11
日期12
卷號4
出版社NATURE PUBLISHING GROUP
國際標準期刊號2045-2322
電子國際標準期刊號2045-2322
語言英式英語
Web of Science 學科類別Multidisciplinary Sciences; Science & Technology - Other Topics

上次更新時間 2021-18-01 於 00:07