CAJ | 학술논문

目的探讨过氧化物酶增殖体激活受体-γ(peroxisome proliferator-activated receptor-γ,PPAR-γ)基因外显子B的Pro12A1a变异与类风湿性关节炎(rheumatoid arthritis,RA)的关系.方法应用聚合酶链反应-限制性片段长度多态性及琼脂糖凝胶电泳法测定无血缘关系的421名四川地区汉族人(包括207例类风湿性关节炎患者及214名健康志愿者)PPAR-γ基因外显子B的Pro12A1a变异.结果在类风湿性关节炎组和健康对照组中PPAR-γ,基因中P等位基因的分布频率分别为98.79%、95.79%;A等位基因的分布频率分别为1.21%、4.21%;PP基因型频率为97.58%和91.59%,PA基因频率为2.42%和8.41%,AA基因频率都为0.两组人群的基因型和等位基因频率分布差异具有统计学意义(P＜0.05).RA组中PPAR-γ基因Pro12A1a的A等位基因的分布频率(1.21%)明显低于健康对照组(4.21%)(P＜0.05).结论 PPAR-γ基因外显子B的Pro12A1a变异可能与风湿性关节炎发病有关.A等位基因可能对类风湿性关节炎有保护作用;中国四川地区汉族人群PPAR-γ基因的Pro12A1a多态性的分布频率与其他地区黄种人群相近,与欧美人群差异较大.
목적 탐토과양화물매증식체격활수체-γ(peroxisome proliferator-activated receptor-γ,PPAR-γ)기인외현자B적Pro12A1a변이여류풍습성관절염(rheumatoid arthritis,RA)적관계.방법 응용취합매련반응-한제성편단장도다태성급경지당응효전영법측정무혈연관계적421명사천지구한족인(포괄207례류풍습성관절염환자급214명건강지원자)PPAR-γ기인외현자B적Pro12A1a변이.결과 재류풍습성관절염조화건강대조조중PPAR-γ,기인중P등위기인적분포빈솔분별위98.79%、95.79%;A등위기인적분포빈솔분별위1.21%、4.21%;PP기인형빈솔위97.58%화91.59%,PA기인빈솔위2.42%화8.41%,AA기인빈솔도위0.량조인군적기인형화등위기인빈솔분포차이구유통계학의의(P＜0.05).RA조중PPAR-γ기인Pro12A1a적A등위기인적분포빈솔(1.21%)명현저우건강대조조(4.21%)(P＜0.05).결론 PPAR-γ기인외현자B적Pro12A1a변이가능여풍습성관절염발병유관.A등위기인가능대류풍습성관절염유보호작용;중국사천지구한족인군PPAR-γ기인적Pro12A1a다태성적분포빈솔여기타지구황충인군상근,여구미인군차이교대.
Objective To investigate the association of the Pro12A1a variant in peroxisome proliferator-activated receptor-γ(PPARy)gene with rheumatoid arthritis.Methods The genotypes of the Pr012A1a variant in the PPAR-γgene were determined by polymerase chain reaction-restriction fragment length polymorphism in 421 unrelated subjects of the Han population in the Sichuan Province of China,including 207 subjects with rheumatoid arthritis and 214 subjects without the disease.The clinical data were also collected and analyzed.Results The allele frequencies in the case and control groups were 98.79%,95.79%for allele P and 1.21%,4.21%for allele A;the genotype frequencies were 97.58%and 91.59%for PP,2.42%and 8.41%for PA,and 0 for AA.The A allele frequency was much lower in the RA group than that in the control group.Conclusion The above data showed that the Pro12A1a variant of the PPARγ was associated with rheumatoid arthritis.The A allele might be a protective factor for RA.The Pro12A1a polymorphism in the PPARγ gene in Sichuan Han population is similar to that in other populations in China,but different from that in European and American populations.