AKT2 rs3730051、AKT2 rs969531基因多态性与广西地区人群ANCA相关性血管炎的关联性  

Relationship between AKT2 rs3730051 and AKT2 rs969531 gene polymorphisms and ANCA associated vasculitis in Guangxi population

作　　者：李柔 薛超[1] 黎伟[1] 饶金兰 LI Rou;XUE Chao;LI Wei(Department of Nephrology,the Second Affiliated Hospital of Guangxi Medical University,Nanning 530007,Guangxi,China)

机构地区：[1]广西医科大学第二附属医院肾内科,广西南宁530007

出　　处：《中国老年学杂志》2023年第5期1085-1089,共5页Chinese Journal of Gerontology

基　　金：国家自然科学基金地区科学基金项目(81360117);广西自然科学基金(2018GXNSFAA281122)。

摘　　要：目的探讨蛋白激酶B(AKT)2 rs3730051、rs969531基因多态性与广西地区人群原发性中性粒细胞胞质抗体(ANCA)相关性血管炎(AAV)关联性及其相关临床症状、实验室指标的关系。方法采用病例对照研究方法,采用多重聚合酶链反应结合高通量测序法对AAV组215例、对照组201例进行基因分型,分析基因多态性与AAV易感关联性,并收集AAV组的临床症状及实验室检查数据进行对比分析。结果AKT2 rs3730051、rs969531基因型和等位基因频率在AAV组和对照组分布差异无统计学意义(P>0.05)。AKT2 rs3730051基因型频率在AAV组有无体重下降亚组中分布差异有统计学意义(P<0.05),Logistic回归分析发现携带TT基因型出现体重下降症状的风险是CC+TC基因型的3.043倍(OR=3.043,OR 95%CI:1.43~6.45;P=0.003)。AKT2 rs3730051位点白细胞计数在AAV患者各基因型中分布差异有统计学意义(P<0.05)。结论AKT2 rs3730051、rs969531两位点基因多态性与广西地区人群AAV易感性无关,AKT2 rs3730051与AAV患者体重下降症状相关,并影响AAV患者的白细胞计数水平。Objective To investigate the relationship between protein kinase B(AKT)2 rs3730051 and rs969531 gene polymorphisms and primary anti-neutrophil cytoplasmic antibody(ANCA)associated vasculitis(AAV)in Guangxi population,as well as their related clinical symptoms and laboratory examination.Methods A case-control study was used,215 patients in AAV group and 201 healthy volunteers in control group were genotyped by multiplex multiple polymerase chain reaction combined with next-generation sequencing.The association between gene polymorphism and AAV susceptibility was analyzed,and clinical symptoms and laboratory examination data of the AAV group were collected for comparative analysis.Results There were no significant differences in genotype and allele frequency of AKT2 rs3730051,rs969531 between AAV group and the control group(P>0.05).The AKT2 rs3730051 genotype was significantly different in the AAV group with or without emaciation symptom(P<0.05).Logistic regression analysis showed that TT genotype had 3.043 times higher risk of emaciation symptoms than CC+TC genotype(OR=3.043,OR 95%CI:1.43~6.45;P=0.003).The amount of leukocyte at AKT2 rs3730051 in each genotype of AAV patients was statistically significant(P<0.05).Conclusions AKT2 rs3730051,rs969531 are not associated with AAV susceptibility in Guangxi population.AKT2 rs3730051 is related to the emaciation symptom of AAV patients,and affects the amount of leukocyte in AAV patients.

关 键 词：蛋白激酶B(AKT)2 原发性抗中性粒细胞胞质抗体相关性血管炎 基因多态性 

分 类 号：R593.2[医药卫生—内科学]