CHRM1基因多态性与河南地区汉族人群高度近视遗传易感性的相关性分析  

Association between CHRM1 gene polymorphisms and genetic susceptibility to high myopia in the Han population of Henan province

作　　者：杨帆[1] 张敏[1] 安广琪 高文娜 杜利平[1] 金学民[1] Yang Fan;Zhang Min;An Guangqi;Gao Wenna;Du Liping;Jin Xuemin(Department of Ophthalmology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院眼科,郑州450052

出　　处：《中华眼底病杂志》2025年第3期194-199,共6页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金(81970792、82171040)。

摘　　要：目的探讨河南地区汉族人群CHRM1基因单核苷酸多态性(SNP)与高度近视(HM)遗传易感性的关系。方法回顾性病例对照研究。2021年1月至2023年4月郑州大学第一附属医院眼科招募的HM患者576例(HM组)、健康志愿者768名(对照组)纳入研究。参与者均为来自河南地区的汉族人群。以Hardy-Weinberg平衡P>0.05、最小等位基因频率>0.05为标准,在千人基因组计划在线网站下载中国北方汉族人群CHRM1基因的SNP基因信息。采用Haploview软件分析HapMap基因型,得到rs55885673、rs544978、rs56995061、rs1942499、rs2075748等5个标签SNP(tagSNP)。采用MassARRAY系统对CHRM1基因的5个tagSNP位点进行质谱分型。采用SHEsis在线软件分析两组间基因型及等位基因频率分布差异,通过连锁不平衡系数D'评估SNP位点间的重组情况,构建单倍型并对频率高于3%的单倍型进行统计分析。结果与对照组比较,HM组患者年龄更小,差异有统计学意义(t=18.515,P<0.05);两组性别构成比比较,差异无统计学意义(χ^(2)=2.869,P=0.087)。与对照组比较,HM组CHRM1基因rs56995061位点中C等位基因[比值比(OR)=1.44,95%可信区间(CI)1.09~1.91,Pc=0.045]、CC基因型频率显著升高(OR=1.50,95%CI 1.11~2.02,Pc=0.038),T等位基因(OR=0.69,95%CI 0.52~0.91,Pc=0.045)、CT基因型(OR=0.67,95%CI 0.49~0.91,Pc=0.045)以及rs2075748位点中CT基因型频率(OR=0.66,95%CI 0.53~0.84,Pc=0.002)显著降低,差异均有统计学意义。HM组rs55885673-rs56995061-rs1942499-rs544978构成的G-T-A-A单倍型频率显著低于对照组,差异有统计学意义(OR=0.71,95%CI 0.54~0.94,P=0.170)。结论CHRM1基因rs56995061、rs2075748位点多态性与河南地区汉族人群HM遗传易感性相关;rs55885673-rs56995061-rs1942499-rs544978构成的G-T-A-A单倍型可降低HM易感性。Objective To investigate the relationship between single nucleotide polymorphisms(SNP)in the CHRM1 gene and genetic susceptibility to high myopia(HM)in the Han population of Henan Province.Methods A retrospective case-control study.From January 2021 to April 2023,576 HM patients(HM group)and 768 healthy volunteers(control group)were recruited from the Department of Ophthalmology,the First Affiliated Hospital of Zhengzhou University.All participants were of Han ethnicity from Henan Province.SNP data for the CHRM1 gene in the Northern Han Chinese population were downloaded from the 1000 Genomes Project Online Website,with screening criteria of Hardy-Weinberg equilibrium P>0.05 and minor allele frequency>0.05.Haploview software was used to analyze HapMap genotypes,identifying 5 tagSNP:rs55885673,rs544978,rs56995061,rs1942499,and rs2075748.Mass ARRAY system was employed for genotyping the 5 tagSNP loci.The SHEsis online software was employed to analyze the distribution differences of genotypes and allele frequencies between the two groups.Linkage disequilibrium coefficient D'was used to evaluate the recombination events between SNP loci,and haplotypes with frequencies exceeding 3%were constructed for statistical analysis.ResultsThe age of the HM group was significantly lower than that of the control group(t=18.515,P<0.05),while no significant difference was observed in gender distribution(χ^(2)=2.869,P=0.087).Compared with the control group,the HM group showed significantly higher frequencies of the C allele[odds ratio(OR)=1.44,95%confidence interval(CI):1.09-1.91,Pc=0.045]and CC genotype(OR=1.50,95%CI:1.11-2.02,Pc=0.038)at the rs56995061 locus,and significantly lower frequencies of the T allele(OR=0.69,95%CI:0.52-0.91,Pc=0.045)and CT genotype(OR=0.67,95%CI:0.49-0.91,Pc=0.045).Additionally,the CT genotype frequency at the rs2075748 locus was significantly lower in the HM group(OR=0.66,95%CI:0.53-0.84,Pc=0.002).The haplotype G-T-A-A formed by rs55885673-rs56995061-rs1942499-rs544978 was significantly less frequent in

关 键 词：高度近视 CHRM1基因 河南汉族人群 单核苷酸多态性 

分 类 号：R73[医药卫生—肿瘤]