TPH2 多态性与汉族人群双相情感障碍的关联研究。

Association study of TPH2 polymorphisms and bipolar disorder in the Han Chinese population.

机构信息

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China.

Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China; Institutes of Biomedical Sciences, Fudan University, 138 Yixueyuan Road, Shanghai 200032, China; Institute for Nutritional Sciences, Shanghai Institutes of Biological Sciences, Chinese Academy of Sciences, 320 Yueyang Road, Shanghai 200031, China.

出版信息

Prog Neuropsychopharmacol Biol Psychiatry. 2015 Jan 2;56:97-100. doi: 10.1016/j.pnpbp.2014.08.008. Epub 2014 Aug 21.

DOI:10.1016/j.pnpbp.2014.08.008

PMID:25152196

Abstract

OBJECTIVE

Bipolar disorder (BPD) is a serious and common mental disorder with high heritability. The serotonergic system is known to be implicated in the etiology of the disorder. Tryptophan hydroxylase isoform-2 (TPH2), which controls the synthesis of serotonin in the brain, has been suggested as a candidate gene for BDP. The aim of this study was to examine the association between the polymorphisms in TPH2 and BPD.

METHODS

We conducted a case-control study by genotyping six SNPs (rs10784941, rs1386494, rs2171363, rs4760816, rs1386486, and rs1872824) in 506 bipolar patients and 507 controls of Chinese Han origin.

RESULTS

rs10784941 was not in the Hardy-Weinberg equilibrium and therefore excluded from further analysis. rs1386486 and rs1872824 showed statistically significant differences between cases and controls in genotype frequencies (rs1386486: p=0.043351; rs1872824: p=0.016563), but no association in allele frequencies. Strong LD was found among rs1386494, rs2171363 and rs4760816, but no positive association with BPD was found for haplotypes.

CONCLUSION

Our results indicate that in the Han Chinese population TPH2 may be a potential susceptibility gene for bipolar disorder. Further studies are needed to validate this association.

摘要

目的

双相情感障碍（BPD）是一种严重且常见的具有高遗传性的精神障碍。已知 5-羟色胺能系统与该疾病的病因有关。色氨酸羟化酶 2 同工型（TPH2）控制大脑中 5-羟色胺的合成，被认为是 BDP 的候选基因。本研究旨在探讨 TPH2 多态性与 BPD 之间的关联。

方法

我们通过基因分型对 506 名中国汉族双相患者和 507 名对照进行了 6 个单核苷酸多态性（rs10784941、rs1386494、rs2171363、rs4760816、rs1386486 和 rs1872824）的病例对照研究。

结果

rs10784941 不符合 Hardy-Weinberg 平衡，因此被排除在进一步分析之外。rs1386486 和 rs1872824 在基因型频率上与病例和对照组之间存在统计学差异（rs1386486：p=0.043351；rs1872824：p=0.016563），但在等位基因频率上没有关联。rs1386494、rs2171363 和 rs4760816 之间存在强连锁不平衡，但没有发现单体型与 BPD 有阳性关联。