补体因子I基因单核苷酸多态性与老年黄斑变性的相关性

发布时间：2018-06-16 10:03

本文选题：老年黄斑变性 + 补体因子I　；参考：《实用医学杂志》2015年07期

【摘要】：目的:研究中国汉族人群补体因子I(CFI)基因5个多态性位点(SNP)与老年黄斑变性(AMD)的相关性。方法:搜集已明确诊断四川地区384例AMD患者样本及384例相匹配的正常对照样本,采集外周血提取基因组DNA,通过Sna Pshot单碱基末端延伸法检测CFI基因上5个SNP位点,采用病例对照研究方法分析该基因相关SNPs与中国汉族人群老年黄斑变性关联性。结果:CFI基因的5个位点均通过HardyWeinberg平衡(P0.05)。rs13117504 G等位基因频率(P=0.037,OR=1.24,95%CI:1.01~1.53),rs10033900 C等位基因频率(P=0.023,OR=1.27,95%CI:1.03~1.57),rs10033900显性遗传模型AMD与对照组间分布频率差异具有统计学意义(P=0.039,OR=0.74,95%CI:0.55~0.99);rs6822976等位基因A分布频率与对照组间(P=0.158),rs7438961等位基因G分布频率与对照组间(P=0.798),rs7671905等位基因T分布频率与对照组间(P=0.909)差异无统计学意义(P0.05);rs10033900隐性遗传模型AMD与对照组间分布频率差异无统计学意义(P=0.107),rs13117504,rs6822976,rs7438961,rs7671905显性及隐性遗传模型AMD与对照组间分布频率差异均无统计学意义(P0.05)。结论:CFI基因上游rs13117504与rs10033900SNP位点与中国汉族人群AMD显著相关,而rs6822976,rs7438961,rs7671905位点与中国汉族人群老年黄斑变性无明显相关性。
[Abstract]:Objective: to study the association of 5 polymorphism loci of complement factor IfCFI gene (SNPs) with senile macular degeneration (AMDD) in Chinese Han population. Methods: a total of 384 AMD patients and 384 matched normal controls were collected. Genomic DNA was extracted from peripheral blood, and 5 SNP loci of CFI gene were detected by DNA shot end extension method. Case-control study was used to analyze the association between SNPs associated with the gene and age-related macular degeneration in Chinese Han population. Results all 5 loci of the CFI gene were detected by Hardy Weinberg balance (P0.05). Rs13117504G allele frequency (P0. 037) OR1. 2495C allele frequency: P0. 023 OR1. 2795CI1. 2795CIV 1. 023 OR1. 2795CI1. 057 rs10033900. There was significant difference in the frequency distribution of allele A between AMD 0. 039 OR0. 039 and control group. The distribution of allele A was 0.550.550.99rs6822976. There was no significant difference in the frequency of allele G between the control group and the control group. There was no significant difference in the T distribution of the allele rs7671905 between the control group and the control group. There was no significant difference in the frequency distribution between AMD and the control group. There was no significant difference in the frequency distribution between AMD and the control group (P0. 107rs13117504rs6822976rs7438961rs7671905). There was no significant difference in frequency distribution between AMD and control group (P 0.05). Conclusion the rs13117504 and rs10033900 SNP loci in the upper reaches of the 1: CFI gene are significantly correlated with AMD in Chinese Han population, while rs68229766 / rs7438961and rs7671905 have no significant correlation with age-related macular degeneration in Chinese Han population.
【作者单位】：西南交通大学生命科学与工程学院;四川省人民医院检验科;陕西省汉中市3201医院微生物免疫检验科;
【分类号】：R774.5

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