Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
OBJECTIVE
The aim of this study was to identify the relationship between G1961E and D2177N variants in the ABCA4 gene with AMD susceptibility.


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.
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Rui
R
Zhang
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Li-Yuan
LY
Wang
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Ya-Feng
YF
Wang
The First Affiliated Hospital, Xi'an Jiaotong University College of Medicine, Xi'an, China.
Chang-Rui
CR
Wu
The Fourth Hospital of Xi'an, Xi'an Jiaotong University, Xi'an, China.
Chun-Ling
CL
Lei
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. Electronic address: wangmx601@mail.xjtu.edu.cn.
Ming-Xu
MX
Wang
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. Electronic address: male@mail.xjtu.edu.cn.
Le
L
Ma
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation; D012307:Risk Factors
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
ABCA4; Age-related macular degeneration; Polymorphism