Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study

Background/objectivesFat 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 am...

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Main Authors: Huma Naqeeb, Bismillah Sehar, Sami Siraj, Ali Madi Almajwal, Bibi Hajira, MoezAlIslam Faris, Sharifa AlBlooshi, Ali Saad R. Alsubaie, Mahpara Safdar, Iftikhar Alam, Falak Zeb
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Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Nutrition
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Online Access:https://www.frontiersin.org/articles/10.3389/fnut.2025.1548340/full
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author Huma Naqeeb
Bismillah Sehar
Sami Siraj
Ali Madi Almajwal
Bibi Hajira
MoezAlIslam Faris
Sharifa AlBlooshi
Ali Saad R. Alsubaie
Mahpara Safdar
Iftikhar Alam
Falak Zeb
author_facet Huma Naqeeb
Bismillah Sehar
Sami Siraj
Ali Madi Almajwal
Bibi Hajira
MoezAlIslam Faris
Sharifa AlBlooshi
Ali Saad R. Alsubaie
Mahpara Safdar
Iftikhar Alam
Falak Zeb
author_sort Huma Naqeeb
collection DOAJ
description Background/objectivesFat 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.MethodsThis 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).ResultsThe 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.ConclusionFTO 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.
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spelling doaj-art-bff8d5f3798c45f680013bdb2743f4782025-08-20T03:23:16ZengFrontiers Media S.A.Frontiers in Nutrition2296-861X2025-06-011210.3389/fnut.2025.15483401548340Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control studyHuma Naqeeb0Bismillah Sehar1Sami Siraj2Ali Madi Almajwal3Bibi Hajira4MoezAlIslam Faris5Sharifa AlBlooshi6Ali Saad R. Alsubaie7Mahpara Safdar8Iftikhar Alam9Falak Zeb10Department of Human Nutrition and Dietetics, Women University Mardan, Mardan, PakistanFaculty of Health, Education and Life Sciences, Birmingham City University, Birmingham, United KingdomInstitute of Pharmaceutical Sciences, Khyber Medical University, Peshawar, PakistanDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi ArabiaDepartment of Clinical Nutrition, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, PakistanDepartment of Clinical Nutrition and Dietetics, Faculty of Allied Medical Sciences, Applied Sciences Private University, Amman, JordanCollege of Natural and Health Sciences, Zayed University, Dubai, United Arab EmiratesDepartment of Public Health, College of Public Health, Imam Abdulrahman Bin Faisal University, Dammam, Saudi ArabiaDepartment of Environmental Design, Health and Nutritional Sciences, Allama Iqbal Open University, Islamabad, Pakistan0Department of Human Nutrition and Dietetics, Bacha Khan University Charsadda, Peshawar, Pakistan1Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, United Arab EmiratesBackground/objectivesFat 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.MethodsThis 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).ResultsThe 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.ConclusionFTO 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.https://www.frontiersin.org/articles/10.3389/fnut.2025.1548340/fullnutrigenomicsgeneanthropometric indicesbreast cancerfat mass and obesity
spellingShingle Huma Naqeeb
Bismillah Sehar
Sami Siraj
Ali Madi Almajwal
Bibi Hajira
MoezAlIslam Faris
Sharifa AlBlooshi
Ali Saad R. Alsubaie
Mahpara Safdar
Iftikhar Alam
Falak Zeb
Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
Frontiers in Nutrition
nutrigenomics
gene
anthropometric indices
breast cancer
fat mass and obesity
title Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
title_full Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
title_fullStr Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
title_full_unstemmed Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
title_short Association of anthropometric indices with rs9939609 FTO gene polymorphism among overweight/obese women with breast cancer: a case-control study
title_sort association of anthropometric indices with rs9939609 fto gene polymorphism among overweight obese women with breast cancer a case control study
topic nutrigenomics
gene
anthropometric indices
breast cancer
fat mass and obesity
url https://www.frontiersin.org/articles/10.3389/fnut.2025.1548340/full
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