尾加压素Ⅱ基因多态性与妊娠期糖尿病遗传易感性的关系

Role of urotensin Ⅱ gene in the genetic susceptibility to gestational diabetes mellitus in northern Chinese women

目的探讨尾加压素Ⅱ基因rs228648位点单核苷酸多态性与妊娠期糖尿病（GDM）发病的关系。方法应用聚合酶链反应-限制性内切酶片段长度多态性（PCR—RFLP）技术；采用病例一对照研究的方法，对中国北方地区无血缘关系的70例GDM孕妇（GDM组）和70例正常妊娠妇女（对照组）的尾加压素Ⅱ基因rs228648位点（G—A）进行单核苷酸多态性分析。结果（1）两组孕妇尾加压素Ⅱ基因rs228648位点各基因型频率分布均符合Hardy-Weinberg平衡榆验，具有群体代表性。（2）GDM组孕妇尾加压素Ⅱ基因rs228648位点G等位基因频率为70．7％，对照组为57．9％，两组比较，差异有统计学意义（P〈0．05）；GDM组孕妇尾加压素Ⅱ基因rs228648位点A等位基因频率为29．3％，对照组为42．1％，两组比较，差异也有统计学意义（P〈0.05）。而两组孕妇的G／G基因型频率比较（分别为52．9％和41．4％），差异无统计学意义（P〉0．05）。（3）尾加压素Ⅱ基因rs228648位点的A／A基因型频率与GDM组呈负相关关系，经多因素logistie同归分析显示，其OR值为0．312，OR值的95％可信区间为0．108～0．900（P=0．031）。结论尾加压素Ⅱ基因rs228648位点单核苷酸多态性可能在GDM遗传易感性中起重要作用。G等位基因可能与GDM发生有关，而尾加压素Ⅱ基因rs228648位点的A型纯合子可能是GDM的重要保护因素。

Objective To investigate the relationship between the polymorphism of site rs228648 in urotensin Ⅱ gene and the genetic susceptibility to gestational diabetes mellitus in northern Chinese women. Methods Genotyping was conducted to investigate the polymorphism of site rs228648 （G-A） in urotensin Ⅱ gene among 70 unrelated gestational diabetes mellitus （GDM） subjects and 70 normal controls. DNA samples isolated from leucocyte of the control and study groups were analyzed for single-nucleotide polymorphisms of the urotensin Ⅱ gene at positions rs228648 using polymerase chain reaction and restriction analysis. Results （ 1 ） The distribution of genotype frequencies of site rs228648 accorded with Hardy- Weinberg＇s equation law, being colony representative. （2）The frequency of G allele of site rs228648 was 70. 7% in GDM group, significantly higher than that in the control group （57.9% , P 〈 0. 05 ） ; and the frequency of A allele of site rs228648 was 29. 3% in GDM group, significantly lower than that in the control group（42. 1% , P 〈0. 05）. There was no significant difference in the frequency of G/G genotype between GDM group and control group （52.9% vs 41.4%, P 〉 0.05 ）. （ 3 ） Women in control group were more likely to be homozygous for the allele A of site rs228648 than women with GDM. The frequency of A/A genotype of rs228648 was negatively correlated with GDM group. By the logistic procedure, ＂after adjustment by age and gestational weeks, the odds ratio was 0. 312 , and Wald Confidence Limites were 0. 108 to 0. 900 （P = 0. 031 ）. Conclusion Urotensin Ⅱ gene may contribute to the genetic susceptibility to gestational diabetes mellitus in northern Chinese population. G allele of site rs228648 is related to GDM possibly, and that homozygosis A of site rs228648 is likely to be an important protecting factor for GDM.