中国北方人群TCF7L2基因多态性与血脂谱的相关性  

The Association between TCF7L2 Polymorphisms and Lipid Profile in Northern China

作　　者：赵晓宇[1] 周钟玉[1] 曹黎[1] 陈美君[1] 王彤彤[1] 邬艳慧[1] 乔虹[1] 

机构地区：[1]哈尔滨医科大学附属第二医院内分泌科,黑龙江哈尔滨150086

出　　处：《现代生物医学进展》2016年第27期5219-5222,5240,共5页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目(81172742;81473053);黑龙江省自然重点项目(ZD201220)

摘　　要：目的:研究中国北方人群TCF7L2基因rs11196218和rs290487多态性的分布特点及其与血脂谱的相关性。方法:对1255例中国北方人群TCF7L2基因进行单核苷酸多态性检测,同时检测其血脂水平,分析血脂水平与上述基因的相关性。结果:在中国北方人群中TCF7L2基因rs11196218位点AA,AG和GG基因型频率分别为6.61%,39.68%和53.71%,等位基因A、G频率分别为26.45%和73.55%;而rs290487位点TT,CT和CC基因型频率分别为37.45%,45.98%和16.57%,等位基因T,C频率分别为60.44%和39.56%。rs11196218A/G与血清低密度脂蛋白、总胆固醇水平具有相关性(P≤0.05),而rs290487C/T与血脂水平无相关性(P>0.05)。结论:在中国北方人群中存在TCF7L2基因rs11196218A/G和rs290487C/T单核苷酸多态性,且其变异频率大,rs11196218A/G与血脂异常相关。Objective： To study the associations of rs11196218A/G and rs290487C/T in the transcription factor 7-like 2（TCF7L2）gene with serum lipid concentrations and its distribution characteristics in Northern China. Methods： A total of 1255 participants were recruited and genotyped for rs11196218A/G and rs290487C/T. The serum lipid levels were detected and then their associations between the serum lipid level and the gene were analyzed. Results： In Northern China, the AA, AG, GG genotype frequency of rs11196218 loci was 6.61 %, 39.68 % and 53.71 %, respectively; A, G allele frequency was 26.45 % and 73.55 %, respectively. Then the TT, CT, CC genotype frequency of rs290487 loci is 37.45 %, 45.98 % and 16.57 %, respectively; T, C allele frequency was 60.44 % and 39.56 %, respectively. rs11196218 A /G was collected with serum Low density lipoprotein（LDL-C） and Total cholesterol levels（TC）（P≤0.05）,while the collection between rs290487C/T and serum lipid levels were not clear（P〉0.05）. Conclusions： The rs11196218A/G and rs290487C/T single nucleotide polymorphisms（SNP） of TCF7L2 are widely found in Northern China and have high mutation frequency,and rs11196218A/G in TCF7L2 is associated with serum LDL-C and TC levels in Northern China.

关 键 词：北方人群 TCF7L2基因 血脂谱 

分 类 号：R589.2[医药卫生—内分泌] Q78[医药卫生—内科学]