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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。

英文摘要:

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. rs11196218A /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).Conclusion: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 serumLDL-C and TC levels in Northern China.

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