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广东省汉族人群RXRA基因rs11185660位点单核苷酸多态性与2型糖尿病遗传易感性关系

Association between single nucleotide polymorphism of RXRArs11185660 and genetic susceptibility of type 2 diabetes mellitus in Guangdong Han population

    摘要
  • 摘要:
      目的  了解广东省汉族人群RXRA基因rs11185660位点的单核苷酸多态性（SNP）与2型糖尿病（T2DM）遗传易感性的关系，为中国汉族人群T2DM发病的分子机制提供科学依据。
      方法  采用病例对照研究方法，对2011年11月 — 2013年10月在广东省10家医院内分泌科招募的1 092例20～70岁T2DM患者和同期在医院体检且按地区和年龄匹配的1 092名20～70岁健康人群进行问卷调查、体格检查和RXRA rs11185660位点基因型检测。
      结果  病例组T2DM患者和对照组健康人群中RXRA rs11185660位点T、C等位基因频率分别为83.2 %、16.8 %和83.3 %、16.7 %，TT、TC、CC基因型频率分别为69.0 %、28.4 %、2.6 %和68.8 %、29.1 %、2.1 %，2组等位基因频率和基因型频率分布差异均无统计学意义（均P > 0.05）；在调整年龄、体质指数、性别前后，病例组和对照组RXRA基因rs11185660位点共显性、显性、隐性和超显性遗传模型间差异均无统计学意义（均P > 0.05）。
      结论  广东省汉族人群RXRA基因 rs11185660位点SNP与T2DM患者遗传易感性不存在明显相关性。

     

    Abstract:
      Objective  To investigate the relationship between single nucleotide polymorphism (SNP) of RXRA rs11185660 and genetic susceptibility of type 2 diabetes mellitus (T2DM) in Guangdong Han population and to provide evidences for exploring pathogenesis of T2DM in Chinese Han population.
      Methods  A case-control study involving questionnaire survey, physical examination and SNP detection of RXRA rs11185660 was conducted among 1 092 T2DM patients aged 20 – 70 years recruited in endocrinology departments of 10 hospitals in Guangdong province between November 2011 and October 2013 and 1 092 age- and living region-matched healthy people having physical examination in hospitals during the same period.
      Results  In the cases, the T and C allele frequencies of RXRA rs11185660 were 83.2% and 16.8%, similar to those in the controls (83.3% and 16.7%). The frequencies of TT, TC, and CC genotypes were 69.0%, 28.4%, and 2.6% in the cases and 68.8%, 29.1%, and 2.1% in the controls, respectively. There were no significant differences in allele frequencies and genotype frequencies of of RXRA rs11185660 between the cases and the controls (P > 0.05 for all). Before and after adjusting for age, body mass index and gender, there were no significant differences in the codominant, dominant, recessive, and superdominant genetic models of RXRA rs11185660 between the cases and the controls (all P > 0.05).
      Conclusion  The study results suggest that there is no significant correlation between single nucleotide polymorphism of RXRA rs11185660 and genetic susceptibility of type 2 diabetic mellitus in Guangdong Han population.

     

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