IL-6基因-597G/A与-572C/G多态性在湖北汉族人群中的分布

Distribution of Interleukin-6-597G/A and-572C/G Promoter Gene Polymorphisms in Hubei Hans Population

目的 :观察白细胞介素 6 (IL 6 )基因 5 97G/A与 5 72C/G多态性在湖北地区汉族人群中的分布及其与研究人群一般临床和生化特征的关系。方法 :检测 2 0 3例湖北地区汉族健康人群的IL 6基因 5 97G/A、 5 72C/G多态性和一般临床、生化指标。结果 :在湖北地区汉族人群中IL 6基因 5 97位点仅发现有GG基因型 ,未见GA和AA基因型 ; 5 72位点存在CC、CG、GG3种基因型 ,C和G等位基因频率分别为 0 .81,0 .19,基因型和等位基因分布均无性别差异。 5 72C/G基因型间年龄、性别、体重指数、血压、血糖、总胆固醇、甘油三酯、白细胞计数等水平均无差异 (P均 >0 .0 5 ) ,但G等位基因携带者血小板计数显著高于CC基因型人群 (188.2 3± 5 2 .5 6 )vs(181.30± 5 0 .10 ,P <0 .0 5 ;单位 :× 10 9·L-1)。湖北地区汉族人群IL 6基因 5 97G/A与 5 72C/G多态性分布与日本人群较为接近 (P >0 .0 5 ) ,但明显不同于欧美白种人 (P <0 .0 1)。结论 :IL 6基因 5 97G/A与 5 72C/G多态性分布存在种族差异 ,中国湖北地区汉族人群中可能不存在IL 6基因 5 97G/A多态性 , 5 72位点存在多态性 ,G等位基因为少见基因 ; 5 72G等位基因携带者外周血血小板计数较高 ,这在血栓性疾病的一级预防中具有一定的意义。

Objective: To study the distribution of interleukin-6(IL-6) gene promoter -597G/A and -572C/G polymorphisms in Hubei Hans population. Methods:IL-6/-597G/A and IL-6/-572C/G polymorphisms were examined in 203 healthy adults by PCR-RFLP. Results: There was only IL-6/-597GG genotype in the test population. IL-6/-572CC,CG and GG genotype frequencies were 0.64,0.35 and 0.01 respectively. -572C and G allele frequencies were 0.19 and 0.81. Platelet count was higher in patients with G allele than in patients with CC genotype(188.23±52.56 vs 181.30±50.10,P<0.05;unit:×10 9·L -1 ),while age,gender,body mass index,blood pressure,serum lipid,blood sugar and white cell count was similar in both groups. The distribution of IL-6/-597G/A and-572C/G polymorphisms in Hubei Hans population was similiar to that in Japanese(P>0.05),but different from that in European population (P<0.05). Conclusion: There is no IL-6/-597G/A polymorphism in Hubei Hans population. IL-6-572G allele frequency is rare,and its carriers have higher platelet count than CC genotype carriers. The distribution of IL-6-597G/A and-572C/G polymorphisms in Chinese Hans is similar to that in Japanese.