广西壮族人群5-HTT基因多态性与支气管哮喘关联性

Correlation between polymorphism of serotonin transporter gene and asthma in Zhuang residents in Guangxi

目的 探讨广西壮族人群5-羟色胺转运体（5-HTT）基因多态性与支气管哮喘（哮喘）的关联性。方法 采用以医院为基础病例对照研究方法抽取2011年1月—2012年12月在广西百色地区右江民族医学院附属医院和百色市人民医院呼吸内科收治的188例壮族哮喘患者和同期在此2家医院进行健康体检的203名壮族体检者分别作为病例组和对照组进行rs140700、rs2020936、rs3794808、rs6352、5-HTTLPR/rs25531、Stin2等位点的基因分型,同时采用激惹、抑郁和焦虑自评量表（IDA）、特质应对方式问卷（TCSQ）和社会支持评定量表（SSAS）进行社会心理因素测评,以非条件logistic回归模型分析比较各位点多态性与哮喘发生的关系及基因多态性与哮喘社会心理影响因素的交互作用。结果 单因素logistic回归分析显示,rs3794808位点CC基因型个体哮喘发生风险为TT基因型个体的2.33倍（OR=2.33,95%CI=1.04-5.20）;多因素logistic回归分析显示,rs140700位点T等位基因携带者（CT＋TT基因型个体）哮喘发生风险为CC基因型个体的2.14倍（OR=2.14,95%CI=1.11-4.13）,rs2020936位点携带AG基因型个体和G等位基因携带者（AG＋GG基因型个体）哮喘发生风险分别为AA基因型个体的1.94倍（OR=1.94,95%CI=1.15-3.25）和1.74倍（OR=1.74,95%CI=1.05-2.88）,rs3794808位点携带CC基因型个体哮喘发生风险为TT基因型个体的2.83倍（OR=2.83,95%CI=1.15-6.98）;交互作用分析结果显示,rs140700位点多态性与抑郁、主观支持及rs2020936 位点多态性与内向性激惹均有交互作用（P〈0.05）。结论 5-HTT基因rs140700、rs2020936、rs3794808等位点多态性可能是广西壮族人群哮喘发病的潜在遗传易感性标志。

Objective To investigate the correlation between polymorphism of serotonin transporter（5-HTT） gene and asthma among Zhuang residents in Guangxi.Methods A case-control study was conducted in 188 asthma cases and 203 healthy controls selected from Zhuang nationality people in Guangxi.The loci of rs140700,rs2020936,rs3794808,rs6352,5-HTTLPR/rs25531,and Stin2 were genotyped.Psychological status of the participants was measured with Irritability,Depression and Anxiety Scale（IDA）,Trait Coping Style Questionnaire（TCSQ）,and Social Support Rating Scale（SSRS）.Unconditional logistic regression analysis was applied to analyze the risk of asthma among different genotype carriers and their interaction with social-psychological factors.Results Univariate logistic regression analyses showed that risk of asthma was significantly increased for carriers of TT genotype than that of CC genotype individuals（odds ratio [OR]=2.33,95% confidence interval[95%CI]：1.04-5.20,P=0.039） for rs3794808.Multivariate logistic regression analyses indicated that polymorphism of loci of rs140700,rs2020936 and rs379480 were associated with asthma.Compared with those with genotype CC,the risk of suffering from asthma for genotype（CT＋TT） carriers was 2.14 folds（95%CI：1.11-4.13,P=0.027） for rs140700.Compared with those with genotype AA,the risk of asthma for genotype AG and（AG＋GG） carriers was 1.94 folds（95%CI：1.15-3.25） and 1.74 folds（95%CI：1.05-2.88,P=0.033） for rs2020936.Compared with those with genotype TT,the risk of asthma for genotype CC carriers was 2.83 folds（95%CI：1.15-6.98,P=0.024） for rs3794808.Polymorphism of rs140700 may interact with the score of depression and subjective support while polymorphism of rs2020936 may interact with score of irritability.Conclusion Polymorphism of rs140700,rs2020936,rs3794808 of 5-HTT may be the potential genetic susceptibility loci of asthma for Zhuang residents in Guangxi.