Association of HTRA1 and CFH gene polymorphisms with age-related macular degeneration in Ningbo, China.

Abstract

Age-related macular degeneration (AMD) is one of the major causes of blindness, and the incidence of this disease has been increasing in recent years. To investigate the association between the single nucleotide polymorphisms (SNPs) of the high temperature requirement factor A-1 (HTRA1) and complement factor H (CFH) genes and susceptibility to AMD in Ningbo, China. Ninety-eight patients with AMD and seventy-three controls were recruited at the Sixth Hospital of Ningbo from August 2017 to April 2019 in China. Genomic DNA was extracted from the venous blood provided by the hospital, and the genotypes of the AMD susceptibility genes CFH and HTAR1 were detected by polymerase chain reaction and sequenced directly. The SNPs rs11200638 on the HTRA1 gene and rs3753394 on the CFH gene were selected for genotype and association analysis. The correlations between the different genotypes of HTRA1 and CFH and AMD were analysed by the Chi-squared test. All the genotypes adhered to the Hardy-Weinberg equilibrium. There were three genotypes (AA, AG and GG) in HTRA1 (rs11200638). The differences in genotypes and allele frequency between the AMD group and the control group were statistically significant (P < 0.05). The A allele was a risk allele (OR: 4.19, 95% Cl: 2.28 ~ 7.70, P < 0.05), with a frequency of 61.7% in patients versus 43.8% in controls. However, the rs3753394 SNP in CFH was not associated with AMD in our study (P > 0.05). The rs11200638 SNP of the HTRA1 gene is associated with AMD, and the AA genotype is a risk factor for AMD in the Ningbo population. There is no significant correlation between the rs3753394 SNP of the CFH gene and AMD.