1State Key Laboratory of Biotherapy, Laboratory of Psychiatry Research, West China Hospital, Sichuan University, Chengdu 610041, China
2Mental Health Center, West China Hospital, Sichuan University, Chengdu 610041, China
3Guangzhou Brain Hospital, Guangzhou 510370, China
4Biobank, West China Hospital, Sichuan University, Chengdu 610041, China

Abstract 

Serotonin plays an important role in mood regulation, but the involvement of serotonin pathway genes in the development of bipolar I disorder (BP-I), a mood disorder, is not clear. We selected 21 single-nucleotide polymorphisms (SNPs) within the HTR2A gene, 8 within the SLC6A4 gene and 23 within the TPH2 gene for genotyping using the GoldenGate genotyping assay. A total of 375 patients with BP-I and 475 normal controls were recruited. Two out of 21 SNPs (rs1475196 and rs9567747) in the HTR2A gene and 1/23 SNPs (rs17110566) in the TPH2 gene were significantly associated with BP-I, both genotype-wise and allele-wise. Furthermore, a specific haplotype in the HTR2A gene showed a significant association with BP-I. Our results indicate that the HTR2A and TPH2 genes in the serotonin pathway play important roles in susceptibility to BP-I.

Keywords

bipolar affective disorder; serotonin pathway; TPH2; HTR2A; SLC6A4

[SpringerLink]