5-羟色胺转运体基因启动子区域多态性与汉族强迫症的关联分析

目的探讨5-羟色胺转运体（Serotonin transporter,5-HTT）基因SLC6A4（solute car-rier family6,member4）启动子区域上44个碱基对插入/缺失多态性与汉族强迫症的关系,研究强迫症病理生理机制。方法将符合《疾病及有关健康问题的国际分类》（第10版,ICD-10）诊断标准的23例强迫症患者,及其父母纳入研究。用PCR法检测判定各自的基因型,用传递不平衡检测（transmission disequilibriumtest,TDT）及单体型相对风险检测（haplotype-based haplotype relative risk,HHRR）测其等位基因的传递是否平衡。结果在所收23个核心家系中,共有24个父母为杂和基因型,在24个杂合子父母中,13个传递了‘l’等位基因,11个传递了‘s’等位基因,未发现有传递不平衡存在（χ^2 DT=0.167,P〉0.05;χ^2HRR=0.820,P〉0.05）。结论5-羟色胺转运体基因启动子区域多态性与中国汉族强迫症可能不存在关联。

Analysis on the association between polymorphism of serotonin transporter gene and obsessive-compulsive disorder in Chinese Han

Objective To explore the association between the polymorphism in the promoter region of the 5-HTT gene （SLC6A4） and obsessive-compulsive disorder （OCD） in Chinese Han population. Methods 23 OCD patients of core pedigrees with Chinese Han was collected, all subjects met International Statistical Classification of Disease and Related Health Problems （10th） criteria for OCD. Genotypes of variants of the 5-FIT gene were tested by polymerase chain reaction （PCR）, and allele inheritance was examined using the Transmission Disequilibrium Test （TDT） and Haplotype-based Haplotype Relative Risk （HHRR） test. Results In 24 heterozygous parents of the sample, 13 transmitted the ‘l’ SLC6A4 allele and 11 transmitted the ‘s’ allele （ x^2 TDT=0. 167, P 〉0.05; x^2 HHRR=0. 820, P〈0.05）. No significant differences were found from these data. Conclusions No association was found between the polymorphism in the promoter region of 5-HT gene and obsessive compulsive disorder in Chinese Han population.