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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.gene.2015.04.068 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
Gene
August 2015
School of Public Health, Xi'an Jiaotong University Health Science Center, Xi'an, China. Electronic address:
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.
Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degeneration.
Int J Mol Med
October 2004
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA.
Age-related macular degeneration (ARMD) is the most common cause of blindness in older patients and is a major health care epidemic in developed countries. The exact cause of ARMD is not known. It has been recently reported that heterozygous missense ABCR mutations are associated with age-related macular degeneration.
View Article and Find Full Text PDFVariation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Arch Ophthalmol
May 2001
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA.
Objectives: To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4) in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were to investigate differences in frequency of the G1961E allele in selected ethnic groups as well as to examine the segregation of both G1961E and D2177N alleles in 5 multiplex families with AMD.
Methods: Five hundred forty-four patients with AMD and 689 controls were ascertained from 3 continents.
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium.
Am J Hum Genet
August 2000
Departments of Ophthalmology and Pathology, Columbia University, New York, NY, 10032, USA.
Age-related macular degeneration (AMD) accounts for >50% of the registered visual disability among North American and Western European populations and has been associated both with environmental factors, such as smoking, and with genetic factors. Previously we have reported disease-associated variants in the ABCR (also called ABCA4) gene in a subset of patients affected with this complex disorder. We have now tested our original hypothesis, that ABCR is a dominant susceptibility locus for AMD, by screening 1,218 unrelated AMD patients of North American and Western European origin and 1,258 comparison individuals from 15 centers in North America and Europe for the two most frequent AMD-associated variants found in ABCR.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!