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To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia.

Citation

Wei-Hua Yue, Hai-Feng Wang, Liang-Dan Sun, Fu-Lei Tang, Zhong-Hua Liu, Hong-Xing Zhang, Wen-Qiang Li, Yan-Ling Zhang, Yang Zhang, Cui-Cui Ma, Bo Du, Li-Fang Wang, Yun-Qing Ren, Yong-Feng Yang, Xiao-Feng Hu, Yi Wang, Wei Deng, Li-Wen Tan, Yun-Long Tan, Qi Chen, Guang-Ming Xu, Gui-Gang Yang, Xian-bo Zuo, Hao Yan, Yan-Yan Ruan, Tian-Lan Lu, Xue Han, Xiao-Hong Ma, Yan Wang, Li-Wei Cai, Chao Jin, Hong-Yan Zhang, Jun Yan, Wei-Feng Mi, Xian-Yong Yin, Wen-Bin Ma, Qi Liu, Lan Kang, Wei Sun, Cheng-Ying Pan, Mei Shuang, Fu-De Yang, Chuan-Yue Wang, Jian-Li Yang, Ke-Qing Li, Xin Ma, Ling-Jiang Li, Xin Yu, Qi-Zhai Li, Xun Huang, Lu-Xian Lv, Tao Li, Guo-Ping Zhao, Wei Huang, Xue-Jun Zhang, Dai Zhang. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nature genetics. 2011 Oct 30;43(12):1228-31

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PMID: 22037552

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