2013 Fiscal Year Final Research Report

Molecular evolutionary analysis on the origin and etiology of schizophrenia

Research Project

Project/Area Number	24659536
Research Category	Grant-in-Aid for Challenging Exploratory Research
Allocation Type	Single-year Grants
Research Field	Psychiatric science
Research Institution	University of Tsukuba
Principal Investigator	ARINAMI Tadao 筑波大学, 医学医療系, 教授 (10212648)
Project Period (FY)	2012-04-01 – 2014-03-31
Keywords	臨床精神分子遺伝学 / 進化医学 / 統合失調症
Research Abstract	Schizophrenia, one of the most detrimental common psychiatric disorders, occurs in all human ethnic groups but not in any animal species, indicating that it emerged during human evolution. To clarify the relation between schizohrenia and the architecture of human genome, the present study compared allele frequencies of polymorphisms associated with schizophrenia among major ethnic groups, Neandertals and Denisovans. Increased frequencies of the risk alleles of the polymorphisms associated with schizohrenia were found significantly in the Europeans and Asians, compared with Sub-Saharan African, Neandertals and Denisovans. These findings suggest that risk alleles have functioned preferentially during human evolution, particularly after "out of Africa", indicating positive selection of schizophrenia associated genes during modern human evolution.