South Asia, making up around 25% of the world’s population, encompasses a wide range of individuals with tremendous genetic and environmental diversity. This region, which spans eight countries, is home to over 4500 anthropologically defined groups that speak numerous languages and have an array of religious beliefs and cultures, making it one of the most diverse places in the world. Much of the region’s rich genetic diversity and structure is the result of a complex combination of population history, migration patterns, and endogamous practices. Despite the overwhelming size and diversity, South Asians have often been underrepresented in genetic research, making up less than 2% of the participants in genetic studies. This has led to a lack of population specific understanding of genetic disease risks. We aim to raise awareness about underlying genetic diversity in this ancestry group, call attention to the lack of representation of the group, and to highlight strategies for future studies in South Asians.

南亚人口约占世界人口的 25%，人口众多，具有巨大的遗传和环境多样性。该地区横跨 8 个国家，居住着 4500 多个人类学定义的群体，他们讲多种语言，拥有多种宗教信仰和文化，使其成为世界上最多元化的地方之一。该地区丰富的遗传多样性和结构很大程度上是人口历史、迁徙模式和同族通婚做法复杂结合的结果。尽管南亚人的规模和多样性具有压倒性的优势，但他们在基因研究中的代表性往往不足，仅占基因研究参与者的不到 2%。这导致人们对遗传病风险缺乏特定人群的了解。我们的目标是提高人们对这个血统群体潜在遗传多样性的认识，提请人们注意该群体缺乏代表性，并强调未来对南亚人的研究策略。