Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia |
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| Authors: | H. Wang S. Duan J. Du X. Li Y. Xu Z. Zhang Y. Wang G. Huang G. Feng L. He |
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| Affiliation: | (1) Bio-X Center, Shanghai Jiao Tong University, Shanghai, China;(2) Institute for Nutritional Sciences, Shanghai Institutes of Biological Sciences, Chinese Academy of Sciences, Shanghai, China;(3) Life Science School, Ningxia University, Yinchuan, China;(4) Shanghai Jiao Tong University Medical School, Shanghai, China;(5) Shanghai Institute of Mental Health, Shanghai, China;(6) NHGG, Bio-X Center, Shanghai Jiao Tong University, Shanghai, China |
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| Abstract: | Summary. Recent research has suggested that the DiGeorge syndrome critical region gene 14 (DGCR14) exhibits activity differences of more than 1.5 fold between the haplotypes of the variants in the promoter region. DGCR14 is located at 22q11.21, an acknowledged region for susceptibility to schizophrenia. To test the hypothesis that DGCR14 may be involved in the etiology of the disease, we carried out a family-based association study between the reported functional markers and schizophrenia in 235 Chinese Han trios. We found significant evidence of preferential transmission of the promoter variants of DGCR14 across all the trios (Best p-value = 0.00038, Global p-value = 0.0008). The positive results have suggested that DGCR14 is likely to play an important role in the etiology of schizophrenia in the Chinese Han population. The first and second authors have contributed equally to this work |
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| Keywords: | : DGCR14 family-based schizophrenia polymorphisms promoter. |
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