近日,中科院上海生科院营养所贺林研究组与加迪夫大学、牛津大学、剑桥大学、上海交通大学、斯坦福大学等学术机构的科学家合作,首次发现ZNF804A基因与精神分裂症存在强烈的相关性,研究论文"Identification of loci associated with schizophrenia by genome-wide association and follow-up"发表在《自然—遗传学》(Nature Genetics)上,引起国际学术界较大反响。
精神分裂症是一种极其严重且愈后不良的重性精神疾病,患病率约为1%,由于精神分裂症的病因复杂,遗传学者一直没有发现确凿的致病基因和致病突变。营养所贺林院士领导的研究组与加迪夫大学、牛津大学、剑桥大学、上海交通大学、斯坦福大学等学术机构进行了国际合作研究,运用最新的全基因组关联分析技术,通过对479名精神分裂症患者和2,937名正常对照的全基因组关联分析,以及基于16,726样品的重复验证和荟萃分析结果,首次发现ZNF804A基因与精神分裂症强烈的相关性(P<=1.61x10-7)。ZNF804A基因作为精神分裂症易感基因被发现,开创了精神疾病遗传学研究的全基因组关联分析时代。(生物谷Bioon.com)
生物谷推荐原始出处:
Nature Genetics,doi:10.1038/ng.201,Michael C O'Donovan, Michael J Owen
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Michael C O'Donovan1, Nicholas Craddock1, Nadine Norton1, Hywel Williams1, Timothy Peirce1, Valentina Moskvina1, Ivan Nikolov1, Marian Hamshere1, Liam Carroll1, Lyudmila Georgieva1, Sarah Dwyer1, Peter Holmans1, Jonathan L Marchini2, Chris C A Spencer2, Bryan Howie2, Hin-Tak Leung3, Annette M Hartmann4, Hans-Jürgen Möller5, Derek W Morris6, YongYong Shi7, GuoYin Feng8, Per Hoffmann9, Peter Propping10, Catalina Vasilescu9, Wolfgang Maier11, Marcella Rietschel12, Stanley Zammit1, Johannes Schumacher13, Emma M Quinn6, Thomas G Schulze13, Nigel M Williams1, Ina Giegling4, Nakao Iwata14,15, Masashi Ikeda14,15, Ariel Darvasi16, Sagiv Shifman16, Lin He7,17, Jubao Duan18,19, Alan R Sanders18,19, Douglas F Levinson20, Pablo V Gejman18,19, Molecular Genetics of Schizophrenia Collaboration21, Sven Cichon9,10, Markus M Nöthen9,10, Michael Gill6, Aiden Corvin6, Dan Rujescu4, George Kirov1 & Michael J Owen1
We carried out a genome-wide association study of schizophrenia (479 cases, 2,937 controls) and tested loci with P < 10-5 in up to 16,726 additional subjects. Of 12 loci followed up, 3 had strong independent support (P < 5 10-4), and the overall pattern of replication was unlikely to occur by chance (P = 9 10-8). Meta-analysis provided strongest evidence for association around ZNF804A (P = 1.61 10-7) and this strengthened when the affected phenotype included bipolar disorder (P = 9.96 10-9).