通过将上万例患者与正常人群进行基因组对照关联研究，我国科学家日前发现了一个新的精神分裂症易感基因，标志着我国在该领域研究跻身世界先进行列。
作为一种严重危害人类身心健康的精神疾病，精神分裂症以精神活动与环境的不协调为主要特征，目前国际医学界试图通过患者基因分析来寻找发病原因。依托安徽医科大学皮肤病重点实验室全基因组关联研究平台和生物信息分析技术，我国科学家通过对近1.2万例患者和正常对照人群的全基因组关联研究，在11号染色体上发现了一个新的精神分裂症易感基因——TSPAN18，同时验证了国外既往研究发现的位于6号染色体上的易感基因，标志着我国的精神分裂症易感基因研究进入世界先进行列。
这项成果近期发表在国际著名学术期刊《自然遗传》（Nature Genetics）上，由安徽医科大学及安徽医科大学第一附属医院张学军团队会同北京大学精神卫生研究所教授张岱、国家人类基因组南方研究中心黄薇团队合作完成。（生物探索）
相关英文论文摘要：
Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2
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, Pcombined = 4.76 × 10−11, odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, Pcombined = 6.91 × 10−12, OR = 0.78; rs2142731 in an intron of PGBD1, Pcombined = 5.14 × 10−10, OR = 0.79) and 11p11.2 (rs11038167 near the 5′ UTR of TSPAN18, Pcombined = 1.09 × 10−11, OR = 1.29; rs11038172, Pcombined = 7.21 × 10−10, OR = 1.25; rs835784, Pcombined = 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.
英文论文链接：https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.979.html
