統合失調症とアフリカ系祖先に関する最大規模の遺伝学研究が共通生物学的基盤を解明(Largest Genetic Study of Schizophrenia and African Ancestry Reveals Shared Biology Across Global Populations)

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2026-01-21 マウントサイナイ医療システム(MSHS)

米国のマウントサイナイ医科大学を中心とする国際研究チームは、アフリカ系祖先を持つ集団を対象とした統合失調症の最大規模の遺伝学研究を実施し、世界各地の集団に共通する生物学的基盤を明らかにした。これまで統合失調症の遺伝研究は欧州系集団に偏っており、遺伝的多様性の理解が限定的だった。本研究では、アフリカ系集団の大規模ゲノムデータを解析し、欧州系集団で同定されてきた多くのリスク遺伝子が、祖先背景を超えて共通して関与していることを示した。一方で、集団特異的な遺伝的特徴も確認され、疾患リスクの精密評価には多様な集団のデータが不可欠であることが示唆された。本成果は、統合失調症の病態理解を深化させるとともに、公平で汎用性の高い遺伝医療の実現に向けた重要な基盤となる。

統合失調症とアフリカ系祖先に関する最大規模の遺伝学研究が共通生物学的基盤を解明(Largest Genetic Study of Schizophrenia and African Ancestry Reveals Shared Biology Across Global Populations)
This graphic representation of the study findings was created by Dr. Panos Roussos with the help of ChatGPT.

<関連情報>

祖先的に多様な集団における統合失調症に関する生物学的知見 Biological insights into schizophrenia from ancestrally diverse populations

Tim B. Bigdeli,Chris Chatzinakos,Jaroslav Bendl,Peter B. Barr,Sanan Venkatesh,Bryan R. Gorman,Tereza Clarence,Giulio Genovese,Conrad O. Iyegbe,Roseann E. Peterson,Sergios-Orestis Kolokotronis,David Burstein,Jacquelyn L. Meyers,Yuli Li,Sundar Natarajan,Michael O. Francis,Nallakkandi Rajeevan,Kei-Hoi Cheung,Project Among African-Americans to Explore Risks for Schizophrenia (PAARTNERS),Consortium on the Genomics of Schizophrenia (COGS),Genomic Psychiatry Cohort (GPC) Investigators,Lynn E. DeLisi,Thomas R. Kosten,Hongyu Zhao,PsychAD Consortium,VA Cooperative Studies Program (CSP) #572,VA Million Veteran Program (MVP),… Panos Roussos
Nature  Published:21 January 2026
DOI:https://doi.org/10.1038/s41586-025-10000-6

Abstract

Schizophrenia and related psychoses occur in all human populations, with the highest rates of diagnosis among Black individuals and those of mainly African ancestry1. Decades of research have established a highly heritable and polygenic basis for schizophrenia, which is mostly shared across populations2,3,4. However, a recruitment bias towards European cohorts5 has led to discoveries that are poorly generalizable to African populations. This exclusion of the world’s most genetically diverse populations narrows our understanding of disease biology and risks exacerbating health disparities. Here we show that electronic health records linked with genomic data from the Million Veteran Program (MVP)6—a national research programme that looks at the effects of genes, lifestyle, military experiences and exposures on the health and wellness of veterans—enable a comprehensive assessment of schizophrenia genetics in populations of African ancestry in the USA. We identify ancestry-independent associations in African populations and expand the catalogue of implicated regions by more than 100 loci. Through statistical fine-mapping and integrative transcriptomic analyses, we refine disease-associated signals to consensus genes with convergent neurobiological functions. These findings provide a much-needed view of schizophrenia’s genetic architecture in populations of African ancestry, and offer biological insights that both extend previous work and broaden its global relevance.

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