Genome-wide association study of bipolar i disorder in the Han Chinese population

M. T.M. Lee, C. H. Chen, C. S. Lee, C. C. Chen, M. Y. Chong, W. C. Ouyang, N. Y. Chiu, L. J. Chuo, C. Y. Chen, H. K.L. Tan, H. Y. Lane, T. J. Chang, C. H. Lin, S. H. Jou, Y. M. Hou, J. Feng, T. J. Lai, C. L. Tung, T. J. Chen, C. J. ChangF. W. Lung, C. K. Chen, I. S. Shiah, C. Y. Liu, P. R. Teng, K. H. Chen, L. J. Shen, C. S. Cheng, T. P. Chang, C. F. Li, C. H. Chou, C. Y. Chen, K. H.T. Wang, C. S.J. Fann, J. Y. Wu, Y. T. Chen, A. T.A. Cheng

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126 Scopus citations


We report the first genome-wide association study in 1000 bipolar I patients and 1000 controls, with a replication of the top hits in another 409 cases and 1000 controls in the Han Chinese population. Four regions with most strongly associated single-nucleotide polymorphisms (SNPs) were detected, of which three were not found in previous GWA studies in the Caucasian populations. Among them, SNPs close to specificity protein 8 (SP8) and ST8 α-N-acetyl- neuraminide α-2,8-sialyltransferase (ST8SIA2) are associated with Bipolar I, with P-values of 4.87 × 10-7 (rs2709736) and 6.05 × 10-6 (rs8040009), respectively. We have also identified SNPs in potassium channel tetramerization domain containing 12 gene (KCTD12) (rs2073831, P9.74 × 10-6) and in CACNB2 (Calcium channel, voltage-dependent, Β-2 subunit) gene (rs11013860, P=5.15 × 10 -5), One SNP nearby the rs1938526 SNP of ANK3 gene and another SNP nearby the SNP rs11720452 in chromosome 3 reported in previous GWA studies also showed suggestive association in this study (P=6.55 × 10-5 and P=1.48 × 10-5, respectively). This may suggest that there are common and population-specific susceptibility genes for bipolar I disorder.

Original languageEnglish
Pages (from-to)548-556
Number of pages9
JournalMolecular Psychiatry
Issue number5
StatePublished - 05 2011


  • ANK3
  • CACNB2
  • KCTD12
  • SP8
  • ST8SIA2
  • bipolar genome study


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