Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis

被引:10
作者
Yu, Weihong [1 ]
Dong, Shuqian [2 ]
Zhao, Chuntao [3 ]
Wang, Haina [4 ]
Dai, Fei [5 ]
Yang, Jingyun [6 ]
机构
[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Ophthalmol, Beijing 100730, Peoples R China
[2] Zhengzhou Univ, Dept Ophthalmol, Affiliated Hosp 1, Zhengzhou 450052, Henan, Peoples R China
[3] Univ Texas SW Med Ctr Dallas, Dept Dev Biol, Dallas, TX 75390 USA
[4] Shandong Univ, Coll Pharmaceut Sci, Jinan, Shandong, Peoples R China
[5] Xi An Jiao Tong Univ, Div Gastroenterol, Coll Med, Affiliated Hosp 2, Xian 710049, Peoples R China
[6] Penn State Univ, Methodol Ctr, University Pk, PA 16801 USA
关键词
Macular degeneration; Polymorphism; Meta-analysis; Gene-cluster analysis; COMPLEMENT FACTOR-H; VISUAL IMPAIRMENT; CHROMOSOME; 10Q26; RISK-FACTORS; HTRA1; SUSCEPTIBILITY; PREVALENCE; ARMS2; POLYMORPHISMS; CFH;
D O I
10.1007/s11033-013-2656-6
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The objective of this study is to examine the cumulative effect of the less studied genetic variants in PLEKHA1/ARMS2/HTRA1 on age-related macular degeneration (AMD). We performed an extensive literature search for studies on the association between AMD and the less studied genetic variants in PLEKHA1/ARMS2/HTRA1. Multiple meta-analyses were performed to evaluate the association between individual genetic variants and AMD. A gene-cluster analysis was used to investigate the cumulative effect of these less studied genetic variants on AMD. A total of 23 studies from 20 published papers met the eligibility criteria and were included in our analyses. Several genetic variants in the gene cluster are significantly associated with AMD in our meta-analyses or in individual studies. Gene-cluster analysis reveals a strong cumulative association between these genetic variants in this gene cluster and AMD (p < 10(-5)). However, two previously suspected SNPs in ARMS2, including rs2736911, the SNP having the largest number of studies in our meta-analyses; and rs3793917, the SNP with the largest sample size, were not significantly associated with AMD (both p's > 0.12). Sensitivity analyses reveal significant association of AMD with rs2736911 in Chinese but not in Caucasian, with c.372_815del443ins54 in Caucasian but not in Chinese, and with rs1049331 in both ethnic groups. These less studied genetic variants have a significant cumulative effect on wet AMD. Our study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to AMD risk, in addition to the two widely studied genetic variants whose association with AMD was well established.
引用
收藏
页码:5551 / 5561
页数:11
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