中华眼科杂志
中華眼科雜誌
중화안과잡지
Chinese Journal of Ophthalmology
2013年
4期
350-356
,共7页
吴佩蓓%顾虹%杨秀芬%刘宁朴
吳珮蓓%顧虹%楊秀芬%劉寧樸
오패배%고홍%양수분%류저박
黄斑变性%补体因子Ⅰ%多态性,单核甘酸
黃斑變性%補體因子Ⅰ%多態性,單覈甘痠
황반변성%보체인자Ⅰ%다태성,단핵감산
Macular degeneration%Complement factor Ⅰ%Polymorphism single nucleotide
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(rs10033900:T＞C,rsl3117504: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x2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 rs 10033900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(x2=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(x2=3.08,Jp=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(x2 =9.03,P =0.003,OR =0.56,95％ CI: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(x2 =0.29,P=0.59).rs2285714等位基因分布频率:渗出性AMD组与对照组间(x2=0.72,P=0.31)和早期AMD组与对照组间(x2=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rs 10033900和rsl3117504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.
目的 探討補體因子Ⅰ(CFI)基因上遊3箇單覈苷痠多態性(SNP)位點與年齡相關性黃斑變性(AMD)的相關性.方法 病例對照研究.共納入誌願者379例,包括滲齣性AMD患者組119例,早期AMD患者組120例,健康對照組140例.取其外週靜脈血提取基因組DNA,應用PCR法結閤限製性內切酶酶切分析法和DNA序列測定法檢測CFI基因上遊的3箇SNP位點(rs10033900:T＞C,rsl3117504:C＞G,rs2285714:C＞T).計量數據組間比較採用方差分析,基因型和等位基因頻率比較採用x2檢驗,比值比和95％可信區間(CI)分析採用logistic迴歸模型計算.結果 rs 10033900變異型等位基因C分佈頻率:滲齣性AMD組為17.4％ (40/230),早期AMD組為22.5％(54/240),對照組為29.3％ (82/280)；滲齣性AMD組與對照組間分佈頻率差異有統計學意義(x2=9.82,P=0.002,OR=0.57,95％ CI:0.36 ～0.88),早期AMD組與對照組間分佈頻率差異無統計學意義(x2=3.08,Jp=0.079).rs13117504變異型等位基因G分佈頻率:滲齣性AMD組為38.6％(91/236),早期AMD組為54.2％ (130/240),對照組為51.8％ (145/280)；滲齣性AMD組與對照組間分佈頻率差異有統計學意義(x2 =9.03,P =0.003,OR =0.56,95％ CI:0.39 ～0.82),早期AMD組與對照組間分佈頻率差異無統計學意義(x2 =0.29,P=0.59).rs2285714等位基因分佈頻率:滲齣性AMD組與對照組間(x2=0.72,P=0.31)和早期AMD組與對照組間(x2=2.30,P=0.13)差異均無統計學意義.結論 CFI基因與滲齣性AMD的髮生相關,其中SNP位點rs 10033900和rsl3117504的變異型等位基因是滲齣性AMD髮病的保護因素,而與早期AMD的髮病無明顯相關性.
목적 탐토보체인자Ⅰ(CFI)기인상유3개단핵감산다태성(SNP)위점여년령상관성황반변성(AMD)적상관성.방법 병례대조연구.공납입지원자379례,포괄삼출성AMD환자조119례,조기AMD환자조120례,건강대조조140례.취기외주정맥혈제취기인조DNA,응용PCR법결합한제성내절매매절분석법화DNA서렬측정법검측CFI기인상유적3개SNP위점(rs10033900:T＞C,rsl3117504:C＞G,rs2285714:C＞T).계량수거조간비교채용방차분석,기인형화등위기인빈솔비교채용x2검험,비치비화95％가신구간(CI)분석채용logistic회귀모형계산.결과 rs 10033900변이형등위기인C분포빈솔:삼출성AMD조위17.4％ (40/230),조기AMD조위22.5％(54/240),대조조위29.3％ (82/280)；삼출성AMD조여대조조간분포빈솔차이유통계학의의(x2=9.82,P=0.002,OR=0.57,95％ CI:0.36 ～0.88),조기AMD조여대조조간분포빈솔차이무통계학의의(x2=3.08,Jp=0.079).rs13117504변이형등위기인G분포빈솔:삼출성AMD조위38.6％(91/236),조기AMD조위54.2％ (130/240),대조조위51.8％ (145/280)；삼출성AMD조여대조조간분포빈솔차이유통계학의의(x2 =9.03,P =0.003,OR =0.56,95％ CI:0.39 ～0.82),조기AMD조여대조조간분포빈솔차이무통계학의의(x2 =0.29,P=0.59).rs2285714등위기인분포빈솔:삼출성AMD조여대조조간(x2=0.72,P=0.31)화조기AMD조여대조조간(x2=2.30,P=0.13)차이균무통계학의의.결론 CFI기인여삼출성AMD적발생상관,기중SNP위점rs 10033900화rsl3117504적변이형등위기인시삼출성AMD발병적보호인소,이여조기AMD적발병무명현상관성.
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 (x2 =9.82,P =0.002,OR =0.57,95％ CI:0.36-0.88),but not with early AMD (x2 =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=0.003,0R=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).Conclusion The minor allele of rs10033900 and rs13117504 in the CFI gene may have a protective role against the risk of exudative AMD.
