HHIP基因rs13118928、rs13141461与新疆蒙古族慢性阻塞性肺疾病易感性的相关性研究

The correlation of HHIP gene (rs13118928 and rs13141461) and the susceptibility of chronic obstructive pulmonary disease in Xinjiang Mongolian population

目的探讨HHIP基因单核苷酸多态性与新疆蒙古族慢性阻塞性肺疾病易感性之间的关系。方法以259例蒙古族吸烟慢性阻塞性肺疾病患者为病例组,245例蒙古族吸烟健康体检者为对照组,提取外周血标本DNA,运用Taqman分型技术检测HHIP基因rs13118928、rs13141461位点多态性。结果HHIP基因rs13118928、rs13141461位点基因型与等位基因在病例组和对照组之间的频率分布,结果显示差异有统计学意义(P<0.05)。rs13118928位点基因型AG、GG,等位基因G在病例组与对照组分布差异有统计学意义(P<0.001),且OR<1,可能降低发生COPD的风险。rs13141461位点基因型TC在病例组与对照组分布差异无统计学意义(P>0.05),rs13141461位点基因型CC,等位基因C在病例组与对照组分布差异有统计学意义(P<0.05),且OR>1,可能增加发生慢阻肺的风险。rs13118928、rs13141461位点基因型与肺功能FEV1%预计值比较差异有统计学意义(P<0.05)。结论 HHIP基rs13118928、rs13141461位点多态性可能与新疆蒙古族人群慢阻肺的发生有关。

Objective To investigate the association between the A9570G polymorphism of ACE2 gene and the relapse of steroid-sensitive nephrotic syndrome(SSNS)in Han childhood of Guangdong.Methods Ninety-two children with SSNS were selected from Guangdong Han nationality.According to the relapse frequency during the first year of the disease,31 cases with more than 3 relapses were as frequency relapse group,61 cases with less than 3 relapses were as non-frequent relapse group,and 60 healthy children were as control group.The gene distribution and allele frequency of ACE2 gene A9570G were observed by polymerase chain reaction-DNA direct sequencing technology.Results In female,the distribution of G allele frequency and GG genotype in SSNS group were significantly lower than that in the control group(39%vs 65%,P<0.05;27%vs 50%,P<0.05).In male,the distribution of G allele/GG genotype in SSNS group was also significantly lower than that in the control group(35%vs 60%,P<0.05).Subgroup analysis found that the distribution of G allele frequency and GG genotype in female of the frequency relapse group were significantly higher than that of the non-frequency relapse group(58%vs 29%,P<0.05;42%vs 19%,P<0.05),and the distribution of G allele/GG genotype in male of the frequency relapse group was significantly higher than that of the non-frequency relapse group(58%vs 24%,P<0.05).Conclusion The A9570G polymorphism of ACE2 gene was associated with the recurrence of children s SSNS,and the children with G allele were susceptible to recurrence.