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

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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.

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Acknowledgements

This study was funded by Natural science foundation of Zhejiang Province (LY19H120001), Zhejiang Province Traditional Chinese Medicine Science and Technology Plan Project (2018ZA111), Ningbo Leading and Outstanding Talents Cultivation Project Selects and Supports Scientific Research Projects, Ningbo Public Welfare Science and Technology Plan Project 2019C50059, Ningbo Yinzhou District Science and Technology Bureau Agricultural and Social Science and Technology Plan Project (Yinke [2017] No. 110) and Ningbo Natural Science Foundation (2019A610353), Ningbo Yinzhou District Agriculture and Social Development Science and Technology Plan Project (Yinke [2018] No. 74).

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Author notes

  1. Yan Gong and Yu Zhan contributed equally to this work

Authors and Affiliations

  1. Department of Eyes, Ningbo Eye Hospital, Ningbo, 315000, China

    Yan Gong, Tao Yuan, Yanhong Liao, Lingyi Zhang, Xiaotian Liu & Yuanhao Zheng

  2. College of Biological and Environmental Sciences, Zhejiang Wanli University, Ningbo, 315100, China

    Yu Zhan & Yongbo Bao

  3. College of Fisheries and Life Science, Shanghai Ocean University, Shanghai, 201306, China

    Yu Zhan

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  1. Yan Gong
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Correspondence to Yongbo Bao.

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The study was approved by the Ethics Committee of Ningbo Eye Hospital (Ethics Ref. No. 2017–05-03).

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Gong, Y., Zhan, Y., Yuan, T. et al. Association of HTRA1 and CFH gene polymorphisms with age-related macular degeneration in Ningbo, China. Int Ophthalmol 41, 995–1002 (2021). https://doi.org/10.1007/s10792-020-01655-3

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