摘要
目的探讨c.*670T>G与壮族人群哮喘风险和外周血特征的相关性。方法选取2017年5月至2020年3月于右江民族医学院附属医院和河池市人民医院就诊的258例哮喘患者与244名健康受试者为研究对象,使用重测序法鉴定c.*670T>G多态性以阐明基因型,流式细胞术结合电阻抗法对外周血细胞进行分类计数。结果研究对象的生活条件是平衡的。与T等位基因相比,G等位基因是壮族哮喘人群的遗传危险因素(OR=1.54,95%CI=1.15-2.06;P=0.004)。与GT+TT基因型相比,GG纯合基因型是壮族哮喘人群的遗传危险因素(OR=1.66,95%CI=1.16-2.38;P=0.005)。风险因素分层后GG纯合基因型增加了男性和城市居民亚组人群患哮喘的风险(P<0.01)。哮喘组的红细胞、血红蛋白和血小板计数明显高于对照组(P<0.001),血小板超过正常值的样本中GG基因型占比82.35%,GT基因型占比17.65%,无TT基因型的占比,GG基因型的血小板整体水平高于GT+TT基因型(P<0.05)。显著性关联使用假阳性报告概率分析验证,在0.1的先验概率水平下,G vs.T假阳性概率为0.071,GG vs.GT+TT假阳性概率为0.153。结论c.*670T>G的GG基因型是广西西北部地区壮族人群哮喘的遗传危险因素,研究增加了c.*670T>G群体遗传的基因型和外周血表型的参考数据。
Objective To assess the association of SLC6A4 gene c.*670T>G polymorphism with the risk for asthma and peripheral blood cytological characteristics among ethnic Zhuang Chinese from Guangxi,China.Methods From May 2017 to March 2020,258 patients diagnosed with asthma and 244 healthy controls were recruited from the Affiliated Hospital of Youjiang Minzhu Medical College and the People′s Hospital of Hechi.Genotypes of the c.*670T>G polymorphism were determined by Sanger sequencing.Flow cytometry was used in combination with an electrical impedance method for the counting and classification of peripheral blood cells.Results Compared with the T allele,the G allele of the c.*670T>G polymorphism was associated with the risk for asthma in the population(OR=1.54,95%CI=1.15-2.06;P=0.004).Compared with the GT and TT genotypes,homozygous GG genotype also comprised a risk factor(OR=1.66,95%CI=1.16-2.38;P=0.005).Stratification of the risk factors showed that the homozygous GG genotype has increased the risk of asthma in males and urban residents(P<0.01).The erythrocyte,hemoglobin and platelet counts of the asthma group were significantly higher than the control group(P<0.001).The GG,GT and TT genotypes have respectively accounted for 82.35%,17.65%and 0%of the samples with platelets exceeding the normal value.The overall platelet level of GG genotype was higher than GT+TT genotype(P<0.05).The significant association was verified by the false positive report probability,and at a prior probability level of 0.1,G vs.T false positive probability was 0.071,and GG vs.GT+TT false positive probability was 0.153.Conclusion The GG genotype of the c.*670T>G polymorphism is associated with the risk for asthma among ethnic Zhuang Chinese from northwest Guangxi.Above finding has also enriched the genotypic data and peripheral blood phenotype for this polymorphism.
作者
陈高
许建国
韦帅
蒙明虑
蓝晨
赵春茹
马迎教
Chen Gao;Xu Jianguo;Wei Shuai;Meng Minglv;Lan Chen;Zhao Chunru;Ma Yingjiao(School of Public Health and Management,Youjiang Minzu Medical College,Baise,Guangxi 533000,China;Department of Lanboratory Medicine,People′s Hospital of Hechi,Hechi,Guangxi 547000,China;Department of Respiratory Medicine,the Affiliated Hospital of Youjiang Medical College,Baise,Guangxi 533000,China;School of Basic Medical Science,Youjiang Minzu Medical College,Baise,Guangxi 533000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2023年第10期1228-1235,共8页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81760006)
右江民族医学院校内课题(yy2021sk083)。
