Association between SKIV2L polymorphism rs429608 and age-related macular degeneration: A meta-analysis

Ophthalmic Genet. 2017 May-Jun;38(3):245-251. doi: 10.1080/13816810.2016.1210650. Epub 2016 Aug 2.

Abstract

Purpose: This study was conducted to comprehensively evaluate the potential association of SKIV2L polymorphism rs429608 with age-related macular degeneration (AMD) through a meta-analysis.

Methods: We performed a literature search in EMBASE, PubMed, Web of Science, and the Chinese Biomedical Database for AMD genetic studies published before August 30, 2015. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for single-nucleotide polymorphisms (SNPs) using fixed-effect models or random effect models according to between-study heterogeneity. Publication bias analyses were conducted using Egger's test.

Results: A total of five studies from published articles were included, and a total number of 2789 AMD cases and 3451 healthy controls were tested in this meta-analysis. The results demonstrated that SKIV2L rs429608 is associated with AMD under allelic model (A vs. G; OR = 0.52, 95% CI 0.44-0.62, p < 0.001), heterozygous model (AG vs. GG; OR = 0.51; 95%CI, 0.38-0.68; p < 0.001; PQ = 0.48; I2 = 0) and dominant model (AA+AG vs. GG; OR = 0.49; 95%CI 0.37-0.65; p < 0.001; PQ = 0.44; I2 = 0), but not under other genetic models.

Conclusions: This meta-analysis showed that SKIV2L rs429608 was statistically associated with AMD and it might exert a protective effect on AMD. Further investigations are needed to validate the association and confirm the role of SKIV2L in AMD.

Keywords: AMD; SKIV2L; SNP; meta-analysis.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Complement Factor H / genetics
  • DNA Helicases / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Macular Degeneration / genetics*
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Risk Factors

Substances

  • Complement Factor H
  • DNA Helicases
  • SKIV2L protein, human