5-羟色胺转运体启动子区域基因多态性位点与双相障碍的关联研究

目的:探讨5-羟色胺转运体蛋白基因启动子区域(5-HTTLPR)位点多态性与双相障碍之间的遗传学联系。方法:以中国西北地区汉族人群中51例双相障碍患者(患者组)的核心家系(父母组102名)共153人为研究对象;取每个成员血液样本DNA,应用聚合酶链反应技术扩增5-HTTLPR位点,以琼脂糖凝胶电泳法进行基因分型,对5-HTTLPR位点多态性与双相障碍之间分子遗传学联系进行以家系为基础的连锁不平衡分析。结果:无论5-HTTLPR位点各种基因型(L/L、L/LG、S/L、S/S、S/LG)还是等位基因(L、LG、S)频率在患者组和父母组比较差异无统计学意义(χ2=3.732,P0.05;χ2=0.633,P0.05)。基于基因型的单倍体相对风险分析(GHRR)以及传递不平衡分析(TDT)也未发现5-HTTLPR与双相障碍存在连锁不平衡(GHRR:P0.05;TDT:χ2=2.418,P0.05)。结论:5-HTTLPR多态性位点在中国西北地区汉族人群双相障碍发病机制中不起主要作用,但不能排除微效作用的存在。

Association study between serotonin transPorter Promoter region gene PolymorPhism and biPolar disor-der

Objective:To explore the genetic association between polymorphisms in serotonin transporter promoter region(5-HTTLPR)gene and bipolar disorder. Method:The subjects in this study were the people from the Han nationality in northwest China,including 153 persons from 51 families. DNA blood samples were extracted from every subject. Polymerase chain reaction was performed to amplify sites of 5-HTTLPR genes and agarose gel electrophoresis method was used to get genotype. Then polymorphisms in serotonin transporter pro-moter region gene and bipolar disorder from individual families was studied based on linkage disequilibrium a-nalysis. Results:Genotypes(L/ L,L/ LG ,S/ L,S/ S,S/ LG )or alleles(L,LG ,S)were not statistically signifi-cant between the patient group and their biological parents(χ2 = 3. 732,P > 0. 05;χ2 = 0. 633,P > 0. 05). Gen-otype-base haplotype relative(GHRR)and transmission disequilibrium test(TDT)statistical analysis did not show association between bipolar disorder and this polymorphism locus in the 5-HTT gene(GHRR:P > 0. 05;TDT:χ2 = 2. 418,P > 0. 05). Conclusion:The polymorphism of 5-HTTLPR gene does not play a principal effect on the pathogenesis of bipolar disorder in Han population from northwest China,but the minor gene inter-action of it can not be exclude.