rs10490924 surrounding HTRA1/ARMS2 regulates the susceptibility of age-related macular degeneration

J Recept Signal Transduct Res. 2021 Apr;41(2):188-195. doi: 10.1080/10799893.2020.1805625. Epub 2020 Aug 10.

Abstract

Multiple studies have assessed the contribution of rs10490924 on chromosome 10q26 surrounding HTRA1/ARMS2 gene to age-related macular degeneration (AMD) risk. However, the causal allele at this locus is still inconclusive. In this meta-analysis, we systematically characterized the potential association between rs10490924 polymorphism and AMD risk. Data available from 12 case-control studies, including a total of 5244 cases and 2755 controls in three different ethnic populations, were used to evaluate the correlation between rs10490924 G/T polymorphism (Ala69Ser) and AMD risk. In overall populations, the results indicated the Ala69Ser polymorphism was significantly associated with AMD under allelic (OR = 0.35, 95% CI = 0.30-0.40), homozygous (OR = 0.12, 95%CI = 0.09-0.17), dominant (OR = 0.18, 95%CI = 0.14-0.24), recessive (OR = 0.33, 95%CI = 0.28-0.39), and heterozygous genetic models (OR = 0.26, 95% CI = 0.21-0.33). Similar results were observed in subgroup analysis. This meta-analysis suggests that rs10490924 (Ala69Ser) polymorphism was significantly associated with the susceptibility of AMD in all ethnicities, Ala69 carriers are resistant to AMD risk.

Keywords: AMD; HTRA1/ARMS2; rs10490924.

MeSH terms

  • Alleles
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • High-Temperature Requirement A Serine Peptidase 1 / genetics*
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Polymorphism, Single Nucleotide / genetics
  • Proteins / genetics*

Substances

  • ARMS2 protein, human
  • Proteins
  • High-Temperature Requirement A Serine Peptidase 1
  • HTRA1 protein, human