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ORIGINAL RESEARCH article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Volume 16 - 2025 | doi: 10.3389/fgene.2025.1603542

This article is part of the Research TopicInsights in Genetics of Common and Rare Diseases 2024View all 25 articles

Validation of a Genome-Wide Polygenic Score for Body Mass Index in South Asians

Provisionally accepted
Ramesh  MenonRamesh Menon1Nikhat  KhanNikhat Khan2Sandeep  CharugullaSandeep Charugulla1Akshi  BassiAkshi Bassi1Pooja  DangarePooja Dangare1Akshay  DedaniyaAkshay Dedaniya2Aakanksha  PantAakanksha Pant2Rammurthy  AnjanappaRammurthy Anjanappa1Praveena  L SamsonPraveena L Samson1Uthra  SatagopanUthra Satagopan1Sakthivel  MuruganSakthivel Murugan1Amol  NaikawadiAmol Naikawadi2Vedam  L RamprasadVedam L Ramprasad1Ravi  GuptaRavi Gupta1*
  • 1Medgenome Pvt. Ltd, Bengaluru, India
  • 2Indus Health Plus Pvt. Ltd, Pune, India

The final, formatted version of the article will be published soon.

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 two-fold increase in the number of overweight adults in the last 30 years. Polygenic risk score (PRS) quantitatively measures an individual's risk for common diseases. PRS has been studied in obesity in Caucasian population and has not been validated in 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 SAS population. We analysed a total of 14,263 individuals from 3 different South Asian cohorts. We compare the risk score with the body mass index (BMI) categories (under-weight, normal weight, over-weight and obese) in all 3 cohorts. High BMI-PRS was associated with increased BMI in all the 3 cohorts. This study also compared validation results from another population specific PRS model for BMI. We conclude that high polygenic risk score is associated with high BMI in South Asians. Our study suggests that PRS score can perhaps be an early predictor of overweight and obesity in the South Asian population.

Keywords: Polygenic risk score, Obesity, South Asian, genetic screening, validation studies

Received: 31 Mar 2025; Accepted: 29 Jul 2025.

Copyright: © 2025 Menon, Khan, Charugulla, Bassi, Dangare, Dedaniya, Pant, Anjanappa, Samson, Satagopan, Murugan, Naikawadi, Ramprasad and Gupta. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Ravi Gupta, Medgenome Pvt. Ltd, Bengaluru, India

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