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阿拉伯人在功能遗传学研究中的代表性不足:推进生物学和人类健康的机遇与障碍。

Underrepresentation of Arabs in Functional Genetics Studies: Opportunities and Obstacles for Advancing Biology and Human Health.

作者信息

Pan Ziyan, Alqahtani Saleh A, Al-Busafi Said A, Al Awadhi Sameer, Elwakil Reda, Fouad Yasser, Sanai Faisal M, Eslam Mohammed

机构信息

Storr Liver Centre, Westmead Institute for Medical Research, Westmead Hospital and University of Sydney, New South Wales, Australia.

Liver, Digestive, & Lifestyle Health Research Section, and Organ Transplant Center of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

出版信息

Liver Int. 2025 May;45(5):e70088. doi: 10.1111/liv.70088.

DOI:10.1111/liv.70088
PMID:40183479
Abstract

A significant challenge to the transnational application of genetics and functional genomic studies is the underrepresentation of certain populations. In this work, we emphasise that while there are over 500 million Arabs living across 22 countries, they are largely underrepresented in genetic studies. Remarkably, only 0.96% of the Genome-Wide Association Studies (GWAS) include Arab participants. This trend is also apparent in various other genetic databases, which not only limit biological discoveries but also exacerbate health inequity. To address this urgent issue, we propose a comprehensive roadmap aimed at effectively integrating the Arab population into genomic research. This strategy includes creating regional genetic biobanks and establishing advanced research programs in translational functional genomics, as well as fostering greater collaboration. Ultimately, this approach will pave the way for more effective precision medicine and health equity for the Arab population and beyond.

摘要

遗传学和功能基因组学研究在跨国应用方面面临的一个重大挑战是某些人群的代表性不足。在这项工作中,我们强调,虽然有超过5亿阿拉伯人生活在22个国家,但他们在基因研究中的代表性在很大程度上不足。值得注意的是,全基因组关联研究(GWAS)中只有0.96%包括阿拉伯参与者。这一趋势在其他各种基因数据库中也很明显,这不仅限制了生物学发现,还加剧了健康不平等。为了解决这一紧迫问题,我们提出了一个全面的路线图,旨在有效地将阿拉伯人群纳入基因组研究。该策略包括创建区域基因生物样本库,建立转化功能基因组学的先进研究项目,以及促进更多的合作。最终,这种方法将为阿拉伯人群及其他人群实现更有效的精准医学和健康公平铺平道路。

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