Rehman Shafee Ur, Abbas Ghulam H
Faculty of Medicine, Ala-Too International University, Tunguch, Bishkek, Kyrgyzstan.
Medicine (Baltimore). 2025 Aug 29;104(35):e44147. doi: 10.1097/MD.0000000000044147.
South Asia comprises genetically diverse populations because its populations have experienced multiple migrations combined with endogamy and isolation throughout history. Research on large-scale genetic variation patterns in this region remains scarce. This study aims to perform both a systematic review and meta-analysis of research about genetic diversity in South Asian populations.
The PubMed database yielded 3798 studies within the time frame from 2010 to 2025. The analysis included 57 studies that fulfilled the required criteria after initial screening. The random-effects model processed pooled F_ST values together with heterozygosity estimates and allele frequency variation across ethnic subgroups.
The genetic differentiation (F_ST) measurements between significant South Asian groups extended from 0.02 to 0.15. The homozygosity levels were significantly higher in tribal populations (mean runs of homozygosity = 0.38) than in caste groups. The combined F_ST value reached 0.072 with a 95% confidence interval ranging from 0.061 to 0.084. The highest heterozygosity values existed among North Indian speakers of the Indo-European language, while isolated tribal populations showed the lowest heterozygosity levels.
The genetic structure of South Asia extends deep into its population because of geographical barriers as well as linguistic and social organization systems. The diverse genetic makeup of populations affects both disease risk profiles and precision medical approaches for individual groups.
南亚地区的人群基因多样，因为其人口在历史上经历了多次迁徙，同时存在族内通婚和隔离现象。该地区大规模遗传变异模式的研究仍然匮乏。本研究旨在对南亚人群遗传多样性的研究进行系统综述和荟萃分析。
在2010年至2025年的时间范围内，PubMed数据库检索到3798项研究。分析包括初步筛选后符合要求标准的57项研究。随机效应模型处理了合并的F_ST值以及不同种族亚组的杂合度估计值和等位基因频率变异。
南亚主要群体之间的遗传分化（F_ST）测量值从0.02到0.15不等。部落人群的纯合度水平（平均纯合度片段长度=0.38）显著高于种姓群体。合并的F_ST值达到0.072，95%置信区间为0.061至0.084。印欧语系北印度语使用者的杂合度值最高，而孤立的部落人群杂合度水平最低。
由于地理障碍以及语言和社会组织系统，南亚的遗传结构深入到其人口之中。人群多样的基因构成影响了疾病风险概况和针对各个群体的精准医疗方法。
