痛风与MUTYH基因rs10527342位点多态性相关性探讨  

The correlation between gout and MUTYH gene rs10527342 polymorphism

作　　者：蔡燕[1,2,3] 邢苓玲 青鑫 何城[1] 彭乙华[4] CAI Yan;XING Ling-ling;QING Xin;HE Cheng;PENG Yi-hua(Department of Clinical Laboratory,Affiliated Hospital of North Sichuan Medical College;Department of Endocrinology,Affiliated Hospital of North Sichuan Medical College;Department of Laboratory Medicine,North Sichuan Medical College,Nanchong 673000,Sichuan,China;Translational Medicine Research Center,North Sichuan Medical College,Nanchong 673000,Sichuan,China)

机构地区：[1]川北医学院附属医院检验科,四川南充637000 [2]川北医学院附属医院检验系,四川南充637000 [3]川北医学院附属医院转化研究中心,四川南充637000 [4]川北医学院附属医院内分泌科川北医学院,四川南充637000

出　　处：《川北医学院学报》2019年第1期55-58,共4页Journal of North Sichuan Medical College

基　　金：川北医学院科研发展计划项目(CBY11-A-ZP06)

摘　　要：目的:探讨MUTYH基因AluYb8MUTYH位点(rs10527342)多态性与我国汉族人群原发性痛风发病风险的关系,为痛风的早期诊断筛选合适的遗传标记。方法:以2014年至2016年在川北医学院附属医院风湿血液科就诊的原发性痛风患者共183例作为实验组,同期健康体检者213名作为对照组,均收集外周血、临床和实验室资料,提取基因组DNA,采用聚合酶链反应(polymerase Chain Reaction,PCR)法检测DNA糖基化酶MUTYH基因AluYb8MUTYH插入/缺失(absence of insertion/presence of insertion,A/P)多态性在标本中的分布情况,并用统计软件SPSS16.0对结果进行分析。结果:MUTYH基因AluYb8MUTYH多态性在痛风组中有167例(91.26%)、对照组中有209例(98.12%)得到有效扩增;对照组中MUTYH基因AluYb8MUTYH多态性基因型分布符合Hardy-Wernberg平衡(χ~2=0.237,P=0.626);其中痛风组中A/A、A/P、P/P基因型频率分别为36.53%、49.70%和13.77%,对照组中A/A、A/P、P/P基因型频率分别为24.88%、51.67%和23.45%;痛风组各基因型与对照组进行比较,差异有统计学意义(χ~2=8.792,P=0.012),痛风组等位基因频率与对照组比较,差异有统计学意义(χ~2=8.540,P=0.003),其中A等位基因与痛风发病风险有关[OR=1.544,95%CI(1.153～2.088)]。结论:MUTYH基因AluYb8缺失型(A等位基因)可能增加痛风的易感性。Objective:To investigate the relationship between AluYb8 MUTYH polymorphism of MUTYH gene and the risk of primary gout in Chinese Han population,to screen suitable genetic markers for early diagnosis of gout.Methods:183 gout patients and 213 healthy controls were recruited during the period 2014 to 2016 from department of immunology and rheumatology in Affiliated Hospital of North Sichuan Medical College.The clinical and laboratory data and peripheral blood were collected,and extraction of genomic DNA.Polymerase chain reaction(PCR) was used to detect the MUTYH gene insertion/deletion polymorphism,and the results were analyzed by the statistical software SPSS16.0.Results:The positive amplification rates of gout group and control group were 91.26% and 98.12%.The AluYb8 MUTYH polymorphism genotype distribution of the control group matched the Hardy-Wernberg equilibrium(χ^2=0.237,P=0.626),the A/A,A/P and P/P genotype frequencies in the gout group were 36.53%,49.70% and 13.77%,while in the control group were 24.88%,51.67% and 23.45%.Compared to the control group,there were significant difference of the genotypes(χ^2=8.796,P=0.012) and the allele gene frequency(χ^2=8.540,P=0.003),especially deletion(A allele) was higher in the gout group,which indicated a dangerous effect of gout [OR=1.608,95%CI(1.200~2.155)].Conclusion:The distribution of AluYb8 deletion(A allele) may increase the risk of gout.

关 键 词：痛风 基因多态性 rs10527342 MUTYH基因 

分 类 号：R589.7[医药卫生—内分泌]