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南亚人群体重指数全基因组多基因评分的验证

Validation of a genome-wide polygenic score for body mass index in South Asians.

作者信息

Menon Ramesh, Khan Nikhat, Charugulla Sandeep, Bassi Akshi, Dangare Pooja, Dedaniya Akshay, Pant Aakanksha, Anjanappa Rammurthy, Samson Praveena L, Satagopan Uthra, Murugan Sakthivel, Naikawadi Amol, Ramprasad Vedam L, Gupta Ravi

机构信息

MedGenome Labs Pvt. Ltd., Bengaluru, Karnataka, India.

Genetics Department, Indus Health Plus, Pune, India.

出版信息

Front Genet. 2025 Sep 4;16:1603542. doi: 10.3389/fgene.2025.1603542. eCollection 2025.

Abstract

Obesity is a complex disorder, manifested by the interaction of inherited and environmental factors and modulated by a person's lifestyle habits. India has witnessed more than a two-fold increase in the number of overweight adults in the last 30 years. The polygenic risk score (PRS) quantitatively measures an individual's risk for common diseases. The PRS for obesity have been validated in the Caucasian population but not in the South Asian (SAS) population. In this study, we benchmarked and validated the existing genome-wide PRS model of obesity with 2.1 million variants in the SAS population. We analyzed a total of 14,263 individuals from three different South Asian cohorts. We compared the risk score with the body mass index (BMI) categories (underweight, normal weight, overweight, and obese) in all three cohorts. High PRS was associated with increased BMI in all the three cohorts. This study also compared validation results from another population-specific PRS model for the BMI. We conclude that high PRS is associated with high BMI in South Asians. Our study suggests that the PRS score can perhaps be an early predictor of overweight and obesity in the South Asian population.

摘要

肥胖是一种复杂的病症,由遗传和环境因素相互作用所致,并受个人生活习惯影响。在过去30年里,印度超重成年人数量增长了两倍多。多基因风险评分(PRS)定量衡量个体患常见疾病的风险。肥胖的PRS已在白种人群中得到验证,但在南亚(SAS)人群中尚未得到验证。在本研究中,我们在SAS人群中对现有的包含210万个变异体的全基因组肥胖PRS模型进行了基准测试和验证。我们分析了来自三个不同南亚队列的总共14263名个体。我们在所有三个队列中将风险评分与体重指数(BMI)类别(体重过轻、正常体重、超重和肥胖)进行了比较。在所有三个队列中,高PRS都与较高的BMI相关。本研究还比较了另一个针对BMI的人群特异性PRS模型的验证结果。我们得出结论,在南亚人中,高PRS与高BMI相关。我们的研究表明,PRS评分或许可以作为南亚人群超重和肥胖的早期预测指标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a67/12441606/be587ca2f2cb/fgene-16-1603542-g001.jpg

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