文献类型：期刊文献

中文题名：TGFβ2基因单核苷酸多态性与陕西省克山病的关联研究

英文题名：Association between single nucleotide polymorphisms of TGFβ2 gene and Keshan disease in Shaanxi Province

作者：杜培儒[1,2];王颖婷[2,3];谭武红[2]

第一作者：杜培儒

机构：[1]新乡学院3D打印学院,新乡453000;[2]西安交通大学医学部公共卫生学院地方病研究所,西安710061;[3]西藏民族大学高原低氧与生命健康实验室,咸阳712000

第一机构：新乡学院3D打印学院

年份：2022

卷号：41

期号：11

起止页码：861-865

中文期刊名：中华地方病学杂志

外文期刊名：Chinese Journal of Endemiology

收录：CSTPCD;;北大核心:【北大核心2020】；

基金：国家自然科学基金(81273008);国家"863计划"(200427)。

语种：中文

中文关键词：克山病;单核苷酸多态性;关联分析;转化生长因子β2

外文关键词：Keshan disease;Single nucleotide polymorphisms;Correlation analysis;Transforming growth factor-β2

摘要：目的探讨转化生长因子β2(TGFβ2)基因的单核苷酸多态性(SNP)与陕西省汉族人群克山病(KD)的相关性。方法 2000年选择陕西省延安市黄陵县KD病区作为此次研究的调查点。采用整群随机抽样方法, 抽取黄陵县6个行政村(腰坪乡段家湾村、桃曲村、腰坪村、建庄村、案角村和店头镇厚子坪村)的52户KD家庭, 对全部家庭成员进行流行病学调查。按照我国《克山病诊断》(WS/T 210-2011)标准确定KD患者(病例组)79例、健康对照人群(对照组)206例, 共计285例研究对象。采集所有研究对象外周静脉血样品, 提取基因组DNA, 采用飞行时间质谱分型技术对TGFβ2基因rs6658835位点进行基因分型。应用χ^(2)检验、t检验对基线资料进行分析, 应用二元logistic回归模型分析KD的影响因素, 应用拟合优度χ^(2)检验分析基因频率分布是否符合哈迪-温伯格定律(Hardy-Weinberg定律), 应用χ^(2)检验对病例组和对照组的基因型和等位基因频率分布进行关联分析, 应用logistic回归分析对混杂因素进行校正后再次对病例组和对照组的基因型频率分布进行关联分析。结果流行病学调查显示, 年龄、心脏是否有杂音情况在病例组和对照组间比较, 差异均有统计学意义(t = 7.03、χ^(2) = 9.66, P均< 0.05);二元logistic回归模型分析显示, 年龄对KD的影响差异有统计学意义(χ^(2) = 20.72, P < 0.001)。病例组和对照组TGFβ2基因rs6658835位点基因频率分布均符合Hardy-Weinberg定律(χ^(2) = 0.02, P = 0.900)。关联分析结果表明, TGFβ2基因rs6658835位点基因型频率分布病例组(GG、GA、AA分别为6.3%、38.0%、55.7%)与对照组(GG、GA、AA分别为10.7%、43.7%、45.6%)比较, 差异无统计学意义(χ^(2) = 2.78, P = 0.249);经年龄校正后, 病例组与对照组TGFβ2基因rs6658835位点基因型、显性模型频率分布差异均有统计学意义(χ^(2)adj = 5.43、4.86,P均< 0.05), 隐性模型频率分布差异无统计学意义(χ^(2)adj = 2.12, P = 0.145)。结论 TGFβ2基因rs6658835位点与陕西省汉族人群KD有相关性。
Objective To investigate the relationship between single nucleotide polymorphisms of transforming growth factor-β2(TGFβ2)gene and Keshan disease(KD)in Han population of Shaanxi Province.Methods KD region in Huangling County,Yan'an City,Shaanxi Province was selected as the investigation site in this study.Using the method of cluster random sampling,52 families with KD in 6 administrative villages in Huangling County(Duanjiawan Village,Taoqu Village,Yaoping Village,Jianzhuang Village,Anjiao Village in Yaoping Town,and Houziping Village in Diantou Town)were selected for epidemiological investigation.According to the"Diagnosis of Keshan Disease"(WS/T 210-2011),285 subjects were identified,including 79 patients with KD(case group)and 206 healthy controls(control group).Genomic DNA was extracted from the peripheral venous blood.The polymorphism of genetic variation of TGFβ2 gene rs6658835 was genotyped by matrix-assisted laser desorption/ionization-time of flight(MALDI-TOF).Chi-square(χ^(2))test and t-test were used to analyze the baseline data,and binary logistic regression model was used to analyze the influencing factors of KD,all samples were tested for Hardy-Weinberg equilibrium using goodness-of-fitχ^(2) test,differences in genotype and allele frequencies between case and control groups were compared byχ^(2) test,and logistic regression analysis was used to compare the genotype frequencies between two groups after adjusting for confounding factors.Results Epidemiological investigation showed that there were significant differences in age and heart murmur between case group and control group(t=7.03,χ^(2)=9.66,P<0.05).The analysis of binary logistic regression model showed that the influence of age on KD was statistically significant(χ^(2)=20.72,P<0.001).The gene frequency distribution of TGFβ2 gene rs6658835 in case group and control group conformed to the Hardy-Weinberg equilibrium(χ^(2)=0.02,P=0.900).Correlation analysis results:the difference of genotype frequency of TGFβ2 gene rs6658835 in case group(GG,GA,AA:6.3%,38.0%,55.7%)and control group(GG,GA,AA:10.7%,43.7%,45.6%)was not statistically significant(χ^(2)=2.78,P=0.249).After adjustment by age,the difference of genotype frequency and dominant model of TGFβ2 gene rs6658835 in case group and control group was statistically significant(χ^(2)adj=5.43,4.86,P<0.05),the difference of recessive model of TGFβ2 gene rs6658835 in case group and control group was not statistically significant(χ^(2)adj=2.12,P=0.145).Conclusion TGFβ2 gene rs6658835 is associated with KD in Han population of Shaanxi Province.