研究成果の概要（英文）：It is known that many disease-related SNPs (risk SNPs) in humans are
ancestral, shared by non-human primates, implying that human-specific environmental or social
changes would be a trigger of the onset of SNP-related diseases. To examine this hypothesis, we
studied linkage disequilibrium (LD) surrounding target SNPs, a signal of positive selection on
ancestral and derived SNPs and estimated the divergence time of a derived allele group. A recent
large-scale association study has identified 128 schizophrenia-related SNPs. Of these, 66 derived
SNPs in East Asia showed strong LD blocks. Our newly developed statistical test revealed significant
signals of ongoing positive selection at 15 SNPs and the most recent common ancestor of a derived
allele group at a half of the SNPs occurred no earlier than 50,000 years ago. This age of positively
selected alleles at each target SNP coincides with the time of drastic changes in human brain
activities that became evident in archaeological remains.
ヒトの精神活動に関わる遺伝子の進化と集団遺伝学
運用要項