LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis

[摘要] Purpose: To examine the association ofage-related macular degeneration (AMD) with HtrA serine peptidase 1 (HTRA1)gene rs11200638 G→A polymorphism and LOC387715/ ARMS2 geners10490924 G→T polymorphisms, and to evaluate the magnitude of the geneeffect and the possible genetic mode of action. Methods: We searched the US NationalLibrary of Medicine’s PubMed, Embase, OMIM, ISI Web of Science, andCNKI databases in a systematic manner to retrieve all geneticassociation studies on the HTRA1 (rs11200638) and LOC387715/ARMS2 (rs10490924) gene polymorphisms and AMD. We performed ameta-analysis conducted with Stata software, version 9.0. Results: Individuals who carried the AAand AG genotypes of HTRA1 gene rs11200638 G→A polymorphism had2.243 and 8.669 times the risk of developing AMD, respectively, whencompared with those who carry the GG genotype. Individuals carrying theTT and TG genotypes of LOC387715/ ARMS2 gene rs10490924 G→Tpolymorphism had 7.512 and 2.353 times the risk of developing AMD,respectively, compared with those who carry GG genotype. These resultssuggested a “moderate” codominant, multiplicative genetic mode; thatis, both HTRA1 rs11200638 G→A polymorphism and LOC387715/ARMS2rs10490924 G→T polymorphism play important roles in the pathogenesis ofAMD. We found no evidence of publication bias. Between-studyheterogeneity was found in both allele-based analysis andgenotype-based analysis. Conclusions: HTRA1 rs11200638 G→Apolymorphism and LOC387715/ARMS2 rs10490924 G→T polymorphismplay important roles in AMD. Gene-gene and gene-environmentalinteractions, as well as precise mechanisms underlying common variantsin the HTRA1 gene and LOC387715/ ARMS2 gene,potentially increase the risk of AMD and need further exploration.

[学科分类] 生物化学/生物物理