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Haplotype analysis confirms association of the serotonin transporter (5-HTT) gene with schizophrenia in the Han Chinese population
Authors:Chuwen Lin  Wei Tang  Jianxin Hu  Linhan Gao  Ke Huang  Yifeng Xu  Guang He  Peiji Liang  Guoyin Feng  Lin He  Yongyong Shi
Affiliation:1. Bio-X Center, Shanghai Jiao Tong University, Shanghai, China;2. Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai, China;3. Changning Institute of Mental Health, the Bio-X Center Hospital, Shanghai, China;4. Institute for Nutritional Sciences, SIBS, Chinese Academy of Sciences, Shanghai, China;5. Shanghai Institute of Mental Health, Shanghai, China;6. School of Life Science and Technology, Shanghai Jiao Tong University, Shanghai, China
Abstract:Serotonin transmission has long been suspected as being involved in the pathogenesis of schizophrenia. 5-HTT is a promising candidate gene for schizophrenia due to its critical role in regulating serotonin transmission and role in the mechanism of the atypical antipsychotic drugs. A common polymorphism STin2 VNTR in the 5-HTT gene has been extensively investigated in the genetic association studies, but the results are conflicting. Meanwhile, the SNPs of the 5-HTT gene have been much less explored. We therefore conducted a case-control study of the association between STin2 VNTR and three tagging SNPs in 5-HTT and schizophrenia in the Han Chinese population based on a cohort of 329 schizophrenic patients and 288 control subjects. No association was found in the single locus, but haplotype-based analyses revealed significant association between two haplotypes with schizophrenia even after Bonferroni correction (P = 0.00000538 and 0.011).
Keywords:Serotonin transporter   Schizophrenia   STin2 VNTR   SNP   Haplotype
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