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年龄相关性黄斑变性与补体因子I基因单核苷酸多态性的相关性研究 被引量:2

Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration
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摘要 目的探讨补体因子I(CFI)基因上游3个单核苷酸多态性(SNP)位点与年龄相关性黄斑变性(AMD)的相关性。方法病例对照研究。共纳入志愿者379例,包括渗出性AMD患者组119例,早期AMD患者组120例,健康对照组140例。取其外周静脉血提取基因组DNA,应用PCR法结合限制性内切酶酶切分析法和DNA序列测定法检测CFI基因上游的3个SNP位点(rsl0033900:T〉C,rs13117504:C〉G,rs2285714:C〉T)。计量数据组间比较采用方差分析,基因型和等位基因频率比较采用x。检验,比值比和95%可信区间(cI)分析采用logistic回归模型计算。结果rsl0033900变异型等位基因c分布频率:渗出性AMD组为17.4%(40/230),早期AMD组为22.5%(54/240),对照组为29.3%(82/280);渗出性AMD组与对照组间分布频率差异有统计学意义()(2=9.82,P=0.002,OR:0.57,95%CI:0.36~0.88),早期AMD组与对照组间分布频率差异无统计学意义(妒=3.08,P=0.079)。rs13117504变异型等位基因G分布频率:渗出性AMD组为38.6%(91/236),早期AMD组为54.2%(130/240),对照组为51.8%(145/280);渗出性AMD组与对照组间分布频率差异有统计学意义(X^2=9.03,P=0.003,OR=0.56,95%C/:0.39~0.82),早期AMD组与对照组间分布频率差异无统计学意义(x。=0.29,P=0.59)。rs2285714等位基因分布频率:渗出性AMD组与对照组间(x。=0.72,P=0.31)和早期AMD组与对照组间(x。=2.30,P=0.13)差异均无统计学意义。结论CFI基因与渗出性AMD的发生相关,其中SNP位点rs10033900和rs13117504的变异型等位基因是渗出性AMD发病的保护因素,而与早期AMD的发病无明显相关性。 Objective To investigate the association of three single nucleotide polymorphism (SNP) in the upstream of the complement factor I (CFI) gene with age-related macular degeneration (AMD) in a Chinese population. Methods Case-control study. Patients with early or late stages of AMD and healthy control subjects were recruited. Genomic DNA was extracted from the peripheral venous blood. Genotyping for SNP rs10033900 : T 〉 C, rsl3117504 : C 〉 G and rs2285714 : C 〉 T in the upstream of the CFI gene was determined by using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Statistical analysis was performed using the R statistical analysis package. Results A total of three hundreds and seventy nine participants were enrolled in the study, including 119 patients with exudative AMD, 120 patients with early AMD and 140 control individuals without AMD. Frequency of the minor allele C of rs10033900 in exudative AMD, early AMD and control groups were 17. 4% (40/230), 22. 5% (54/240) and 29. 3% (82/280), respectively. Significant association of rs10033900 was detected with exudative AMD (X^2 = 9.82,P = 0. 002, OR = 0. 57, 95% CI:O. 36 - 0. 88), but not with early AMD (X^2 = 3.08,P = 0. 079). Frequency of the minor allele G of rs13117504 in exudative AMD, early AMD and control groups were 38.6% (91/236), 54. 2% (130/240) and 51.8% (145/280) , respectively. Significant association of rs13117504 was detected with exudative AMD (X2 = 9. 03,P=0. 003,OR =0. 56,95% CI:0. 39 -0. 82), but not with early AMD (X2 =0. 29,P =0. 59). No association was detected between rs2285714 and exudative AMD (X2 = 0.72, P = 0.31 ) or between rs2285714 and early AMD ( X2 = 2. 30, P = 0. 13 ). Conelusion The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.
作者 吴佩蓓 顾虹 杨秀芬 刘宁朴 WU Pei-bei, GU Hong, YANG Xiu-fen, LIU Ning-pu. Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Belting Tongren Hospital, Capital Medical University, Beijing 100730, China
出处 《中华眼科杂志》 CAS CSCD 北大核心 2013年第4期350-356,共7页 Chinese Journal of Ophthalmology
基金 国家自然科学基金(81070734) 北京市教育委员会科技计划重点项目(KZ201110025028) 北京市卫生系统高层次卫生技术人才培养计划(2009208)
关键词 黄斑变性 补体因子I 多态性 单核甘酸 Macular degeneration Complement factor I Polymorphism single nucleotide
作者简介 通信作者:刘宁朴,Email:nliu001@gmail.com
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