Yan Gong1, Yu Zhan2,3, Tao Yuan1, Yanhong Liao1, Lingyi Zhang1, Xiaotian Liu1, Yuanhao Zheng1, Yongbo Bao4. 1. Department of Eyes, Ningbo Eye Hospital, Ningbo, 315000, China. 2. College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo, 315100, China. 3. College of Fisheries and Life Science, Shanghai Ocean University, Shanghai, 201306, China. 4. College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo, 315100, China. bobbao2001@gmail.com.
Abstract
BACKGROUND: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
BACKGROUND: 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. OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
Entities:
Keywords:
Age-related macular degeneration; CFH; Correlation; HTRA1; SNP
Authors: Amanda J Churchill; James G Carter; Helen C Lovell; Conor Ramsden; Steven J Turner; Anna Yeung; Julia Escardo; Denize Atan Journal: Hum Mol Genet Date: 2006-08-29 Impact factor: 6.150
Authors: Gregory S Hageman; Don H Anderson; Lincoln V Johnson; Lisa S Hancox; Andrew J Taiber; Lisa I Hardisty; Jill L Hageman; Heather A Stockman; James D Borchardt; Karen M Gehrs; Richard J H Smith; Giuliana Silvestri; Stephen R Russell; Caroline C W Klaver; Irene Barbazetto; Stanley Chang; Lawrence A Yannuzzi; Gaetano R Barile; John C Merriam; R Theodore Smith; Adam K Olsh; Julie Bergeron; Jana Zernant; Joanna E Merriam; Bert Gold; Michael Dean; Rando Allikmets Journal: Proc Natl Acad Sci U S A Date: 2005-05-03 Impact factor: 11.205