Association of CFH and MAP1LC3B gene polymorphisms with age-related macular degeneration in a high-altitude population

作     者：Rui-Juan Guan Xin Yan Ling Li Ze-Feng Kang Xiao-Ying Zhang Huan-Juan Yang 

作者机构：Soochow UniversitySuzhou 215000Jiangsu ProvinceChina Department of OphthalmologyQinghai Provincial People's HospitalXining 810007Qinghai ProvinceChina Eye HospitalChina Academy of Chinese Medical SciencesBeijing 100043China 

出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)

年 卷 期：2022年第15卷第11期

页      面：1752-1756页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

主　　题：age-related macular degeneration complement factor H microtubule-associated protein 1 light chain 3 beta single nucleotide polymorphisms pathogenesis 

摘      要：AIM: To evaluate the association of complement factor H(CFH) and microtubule-associated protein 1 light chain 3 beta(MAP1LC3B) gene polymorphisms with the risk of age-related macular degeneration(AMD) in a high-altitude population. METHODS: The study group consisted of 172 participants with symptoms of AMD who were examined and diagnosed between January 2019 and June 2020. The control group was composed of 120 healthy individuals. Each participant was required to provide two milliliters of peripheral blood for DNA extraction. Two single nucleotide polymorphisms(SNPs) of CFH(rs1061170 and rs800292) and two SNPs of MAP1LC3B(rs8044820 and rs9903) were genotyped. The genotypes and allele frequencies of the SNPs in the study and control groups were further compared using Chi-square and Fisher’s exact tests. RESULTS: In a high-altitude population, the nominally significant differences of rs800292 and rs9903’s genotype AG frequencies were observed in the AMD group(P=0.034 and 0.004, respectively). The frequencies of allele G of rs800292 and allele A of rs9903 were also significantly dif ferent in the AMD group compared to the control [(P=0.034, OR=0.70, 95%CI: 0.50-0.98) and(P=0.004, OR=1.60, 95%CI: 1.15-2.22), respectively]. No significant differences in the genotype distributions(P=0.16 and 0.40, respectively) and allele frequencies(P0.05) of rs1061170 and rs8044820 were observed in the AMD ***: Genotype AG of rs800292 may be a protective factor for AMD. Conversely, rs9903 seems to be a risk factor for AMD. Therefore, allele G of rs800292 may be a protective factor, and allele A of rs9903, a risk factor for AMD in Qinghai high-altitude population.