Recent Positive Selection Drives the Expansion of a Schizophrenia Risk Nonsynonymous Variant at SLC39A8 in Europeans

摘要: Natural selection has played important roles in optimizing complex human adaptations. However, schizophrenia poses an evolutionary paradox during evolution, as the illness strongly negative effects on fitness, but persists with a prevalence of ~0.5% across global populations. Recent studies have identified numerous risk variations diverse populations, which might be able to explain stable and high rate morbidity different cultures regions, questions about why alleles derived maintained gene pool still remain unsolved. Here, we studied pattern variant rs13107325 (P < 5.0 × 10(-8) Europeans) SLC39A8 gene. We found SNP is monomorphic Asians Africans (derived) T-allele totally absent, further analyses showed experienced recent positive Europeans. Subsequent exploratory implicated that colder environment Europe was likely selective pressures, ie, when modern humans migrated "out Africa" moved mainland (a cooler continent than Africa), new due protected from hypertension also helped them adapt cold environment. The hypothesis supported by our pleiotropic energy intake well obesity Our data thus provides intriguing example illustrate possible mechanism for maintaining pool, product caused effect evolution.