ORIGINAL RESEARCH article

Front. Nutr.

Sec. Nutrigenomics

Volume 12 - 2025 | doi: 10.3389/fnut.2025.1548340

This article is part of the Research TopicExploring the Obesity-Cancer Nexus: Dietary Influences and Biological MechanismsView all 7 articles

Association of Anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: A case-control study in Pakistan

Provisionally accepted
  • 1Women University Mardan, Mardan, Khyber Pakhtunkhwa, Pakistan
  • 2Birmingham City University, Birmingham, United Kingdom
  • 3Khyber Medical University, Peshawar, Khyber Pakhtunkhwa, Pakistan
  • 4King Saud University, Riyadh, Riyadh, Saudi Arabia
  • 5Applied Science Private University, Amman, Amman, Jordan
  • 6Zayed University, Abu Dhabi, United Arab Emirates
  • 7Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia
  • 8Allama Iqbal Open University, Islamabad, Islamabad, Pakistan
  • 9Bacha Khan University, Peshawar, Khyber Pakhtunkhwa, Pakistan
  • 10Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates
  • 11University of Sharjah, Sharjah, United Arab Emirates

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

Background/Objectives: Fat mass and obesity associated (FTO) gene and anthropometric measurements might be associated with breast cancer (BC) risk. This study aimed to assess the interactions between single nucleotide polymorphism (SNP) rs9939609 of the FTO gene, anthropometric indices, and BC risk among pre- and post-menopause women with overweight/obesity in Pakistan. Methods: This retrospective case-control study conducted on a convenience sample of 200 women divided into two groups: a case group comprised of 100 women diagnosed with BC, and control group comprised of 100 (age and menopausal status matched healthy women). Physical activity was assessed using validated questionnaire. Data on body mass index (BMI, kg/m2), waist-to-hip ratio (WHR, cm), sociodemographic, and blood samples were collected from both groups. The rs9939609 FTO gene polymorphism was genotyped using the tetra-primer amplification refractory mutation system polymerase chain reaction and Sanger sequencing. Multiple regressions were presented as adjusted odds ratios (OR) and their respective confidence intervals (95% CI). Results: The FTO rs9939609 T>A polymorphism showed a significantly higher frequency of the homozygous AA genotype in BC patients compared to healthy controls (22% vs. 13%, p<0.05). The odds ratio for BC was 2.4 (CI = 1.09-5.3, p<0.05), indicating that women with the AA genotype were more susceptible to BC compared to those with the wild-type TT genotype. Additionally, BC patients exhibited significantly higher BMI (27±4.0 vs. 25±3.4, p<0.05) and WHR (0.88±0.06 vs. 0.85±0.08, p<0.05) compared to healthy controls. These findings suggest a significant association between the FTO rs9939609 AA genotype, obesity, and BC risk. Conclusion: FTO gene polymorphism may be implicated in the etiopathogenesis of BC, both in FTO pre- and post-menopause women diagnosed with overweight/obesity. Future cohorts are required to confirm the association between the FTO gene and BC in obese women and to identify the underlying biological mechanisms.

Keywords: Nutrigenomics, gene, Anthropometric indices, breast cancer, fat mass-and obesity

Received: 16 Jan 2025; Accepted: 04 Jun 2025.

Copyright: © 2025 Naqeeb, Sehar, Siraj, Almajwal, Hajira, Faris, Alblooshi, Alsubaie, Safdar, Alam and Zeb. 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: Falak Zeb, Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates

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