Rui Zhang1, Li-Yuan Wang1, Ya-Feng Wang1, Chang-Rui Wu2, Chun-Ling Lei3, Ming-Xu Wang4, Le Ma5. 1. School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. 2. The First Affiliated Hospital, Xi'an Jiaotong University College of Medicine, Xi'an, China. 3. The Fourth Hospital of Xi'an, Xi'an Jiaotong University, Xi'an, China. 4. School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. Electronic address: wangmx601@mail.xjtu.edu.cn. 5. School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. Electronic address: male@mail.xjtu.edu.cn.
Abstract
OBJECTIVE: The aim of this study was to identify the relationship between G1961E and D2177N variants in the ABCA4 gene with AMD susceptibility. DESIGN AND METHODS: All eligible studies published up to October 2014 were obtained from MEDLINE, EMBASE, and ISI Web of Science. The pooled odds ratio (OR) with 95% confidence intervals (CIs) was calculated to evaluate the strength of this association. RESULTS: Twenty-four studies enrolling 4580 AMD cases and 5180 controls were identified. Both G1961E (OR = 3.22, 95% CI: 1.74-5.95) and D2177N (OR = 2.36, 95% CI: 1.41-3.93) variations showed significant associations with increased risk of AMD. In addition, a more significant relationship in the D2177N mutation with increased risk for AMD was found in Americans (OR = 4.31, 95% CI: 1.90-9.73), while no association was demonstrated in Europeans. For Asians, no carriers of the risk factor A allele in either variant were detected in any of AMD patients and control subjects. CONCLUSIONS: Significant evidence was found for a relationship between the G1961E and D2177N variants in ABCA4 with increased susceptibility to AMD, specifically for Americans. However, large-scale studies are still required to further validate these findings in different ethnicities.
OBJECTIVE: The aim of this study was to identify the relationship between G1961E and D2177N variants in the ABCA4 gene with AMD susceptibility. DESIGN AND METHODS: All eligible studies published up to October 2014 were obtained from MEDLINE, EMBASE, and ISI Web of Science. The pooled odds ratio (OR) with 95% confidence intervals (CIs) was calculated to evaluate the strength of this association. RESULTS: Twenty-four studies enrolling 4580 AMD cases and 5180 controls were identified. Both G1961E (OR = 3.22, 95% CI: 1.74-5.95) and D2177N (OR = 2.36, 95% CI: 1.41-3.93) variations showed significant associations with increased risk of AMD. In addition, a more significant relationship in the D2177N mutation with increased risk for AMD was found in Americans (OR = 4.31, 95% CI: 1.90-9.73), while no association was demonstrated in Europeans. For Asians, no carriers of the risk factor A allele in either variant were detected in any of AMDpatients and control subjects. CONCLUSIONS: Significant evidence was found for a relationship between the G1961E and D2177N variants in ABCA4 with increased susceptibility to AMD, specifically for Americans. However, large-scale studies are still required to further validate these findings in different ethnicities.
Authors: Tobias Duncker; Gregory E Stein; Winston Lee; Stephen H Tsang; Jana Zernant; Srilaxmi Bearelly; Donald C Hood; Vivienne C Greenstein; François C Delori; Rando Allikmets; Janet R Sparrow Journal: Invest Ophthalmol Vis Sci Date: 2015-11 Impact factor: 4.799