%0 Journal Article
%T Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan
%A Te-Jen Lai
%A Chia-Yen Wu
%A Hsu-Wen Tsai
%A Yi-Mei J Lin
%A H Sunny Sun
%J BMC Medical Genetics
%D 2005
%I BioMed Central
%R 10.1186/1471-2350-6-14
%X Using a systematic approach, we have searched the exons and promoter region of the TPH1 gene for sequence variants in Taiwanese Han and have identified five variants, A-1067G, G-347T, T3804A, C27224T, and A27237G. These five variants plus another five taken from the literature and a public database were examined for an association in 108 BPD patients and 103 controls; no association was detected for any of the 10 variants.Haplotype constructions using these 10 SNPs showed that the 3 most common haplotypes in both patients and controls were identical. One of the fourth common haplotype in the patient group (i.e. GGGAGACCCA) was unique and showed a trend of significance with the disease (P = 0.028). However, the significance was abolished after Bonferroni correction thus suggesting the association is weak. In addition, three haplotype-tagged SNPs (htSNPs) were selected to represent all haplotypes with frequencies larger than 2% in the Taiwanese Han population. The defined TPH1 htSNPs significantly reduce the marker number for haplotype analysis thus provides useful information for future association studies in our population.Results of this study did not support the role of TPH1 gene in BPD etiology. As the current studies found the TPH1 gene under investigation belongs to the peripheral serotonin system and may link to a cardiac dysfunction phenotype, a second TPH gene that functions predominantly in the brain (i.e., nTPH or TPH2) should be the target for the future association study.Bipolar affective disorder (BPD) is a chronic, severe mood disorder characterized by recurrent episodes of mania and depression. It often interferes with the patient's ability to cope with his daily routine and has a high mortality rate from suicide. BPD is estimated to have a lifetime prevalence of 0.1% to 1% in Taiwanese Han [1]. The high prevalence, together with the high frequency of hospitalization, psychosocial impairment, suicide, and substance abuse has made the disease a major p
%U http://www.biomedcentral.com/1471-2350/6/14