中国汉族人群5-羟色胺转运体基因多态性与神经性厌食的关联研究

目的:探讨中国汉族人群5-羟色胺转运体基因启动子区域(5-HTTLPR)多态性与神经性厌食的关系。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对198例神经性厌食患者和225例正常健康对照者进行基因分型和关联分析。结果:①5-HTTLPR基因的3种基因型S/S、L/S和L/L在神经性厌食组的分布频率分别为65.7%、26.8%、7.6%,对照组为48.8%、37.8%、13.4%,两组差异有统计学意义(P<0.05)。等位基因S、L在神经性厌食组的分布分别为79.0%、21.0%,对照组为69.3%、30.7%,差异有统计学意义(P<0.05)。患病与携带L等位基因成负关联(OR=0.52,95%CI:0.35～0.77),患病与L/S基因型成负关联(OR=0.52,95%CI:0.34～0.79)。②5-HTTLPR功能三等位基因型(LA/LA、S/LA+LA/LG、S/S+S/LG+LG/LG)在神经性厌食组分布频率分别为2.0%、12.2%、85.8%,对照组为4.1%、23.4%、72.5%,两组差异有统计学意义(P<0.05)。患病与携带LA等位基因成负关联(OR=0.44,95%CI:0.25～0.77),患病与S/LA基因型成负关联(OR=0.44,95%CI:0.24～0.81)。结论::5-HTTLPR基因启动子区域多态性与中国汉族人群AN可能存在关联,L、LA等位基因及L/S、S/LA基因型为AN患病的保护等位基因及基因型。

Study on association between polymorphisms of 5-HTTLPR gene and anorexia nervosa in Chinese Han population

Objective:To explore the genetic association between anorexia nervosa (AN) and polymorphism of serotonin transporter promoter gene (5-HTTLPR) in Chinese Han population.Method:The genotype is detected with PCR-RFLP technique to analyze the polymorphism of 5-HTTLPR among 198 patients with AN and 225 normal controls.Results:①Genotypes S/S,L/S,L/L distributed in AN patients were respectively 65.7%,26.8%,7.6% and controls were 48.8%,37.8%,13.4%.There was significant difference between patients and controls on genotype frequencies of 5-HTTLPR (P<0.05).Alleles S,L distributed in AN patients were respectively 79.0%,21.0%,and controls were 69.3%,30.7%.There was significant difference between patients and controls on alleles frequencies (P<0.05).This study showed negative association of L allele with AN (OR=0.52,95%CI:0.35～0.77),and negative association of L/S genotype with AN (OR=0.52,95%CI:0.34～0.79).②Genotypes of functionally triallelic polymorphism of 5-HTTLPR(LA/LA,S/LA+LA/LG,S /S + S /LG + LG/LG) distributed in AN patients were respectively 2.0%,12.2%,85.8%,and controls were 4.1%,23.4%,72.5%.There was significant difference in frequency distributions of genotypes of functionally triallelic polymorphism of 5-HTTLPR between case group and control group (P<0.05).This study showed negative association of LA allele with AN (OR=0.44,95%CI:0.25～0.77),and negative association of S/LA genotype with AN (OR=0.44,95%CI:0.24～0.81).Conclusion:Polymorphism of 5-HTTLPR is probably associated with anorexia nervosa in this Han population;L,LA allele and L/S,S/LA genotype are the protective allele and genotype for the patients with AN.