FTO Gene Variants Are Associated with PCOS Susceptibility and Hyperandrogenemia in Young Korean Women
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BACKGROUND: The fat mass and obesity-associated (FTO) gene is associated with obesity and type 2 diabetes mellitus. Obesity and insulin resistance are also common features of polycystic ovary syndrome (PCOS). Therefore, the FTO gene might be a candidate gene for PCOS susceptibility. The aim of the present study was to evaluate the effects of FTO gene variants on PCOS susceptibility and metabolic and reproductive hormonal parameters. METHODS: We recruited 432 women with PCOS (24±5 years) and 927 healthy women with regular menstrual cycles (27±5 years) and performed a case-control association study. We genotyped the single nucleotide polymorphisms rs1421085, rs17817449, and rs8050136 in the FTO gene and collected metabolic and hormonal measurements. RESULTS: Logistic regression revealed that the G/G genotype (rs1421085, 1.6%), the C/C genotype (rs17817449, 1.6%), and the A/A genotype (rs8050136, 1.6%) were strongly associated with an increased risk of PCOS (odds ratio, 2.551 to 2.559; all P<0.05). The strengths of these associations were attenuated after adjusting for age and BMI. The women with these genotypes were more obese and exhibited higher free androgen indices (P<0.05) and higher free testosterone levels (P=0.053 to 0.063) compared to the other genotypes. However the significant differences disappeared after adjusting for body mass index (BMI). When we analyzed the women with PCOS and the control groups separately, there were no significant differences in the metabolic and reproductive hormonal parameters according to the FTO gene variants. CONCLUSION: The rs1421085, rs17817449, and rs8050136 variants of the FTO gene were associated with PCOS susceptibility and hyperandrogenemia in young Korean women. These associations may be mediated through an effect of BMI.
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The FTO locus has previously been reported to be associated with affected androgen levels, polycystic ovary syndrome susceptibility and age at menarche in females.
“The FTO locus has previously been reported to be associated with affected androgen levels, polycystic ovary syndrome susceptibility and age at menarche in females while its impact on serum T and T-related diseases in men is unknown and warrants further investigations [46, 47].”
From Causal relationship between obesity and serum testosterone status in men: A bi-directional mendelian randomization analysis (2017) · cites this paper as [47]
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References 30 · Cited by 43
- Authors
- Song, D. K., Lee, H., Oh, J.-Y., Hong, Y. S., & Sung, Y.-A.
- Affiliations
- Ewha Womans University (KR)
- Corresponding author
- Lee, Hyejin
- Venue
- Diabetes & Metabolism Journal
- Publisher
- Korean Diabetes Association
- Published
- 2014
- Volume
- 38
- Issue
- 4
- Pages
- 302
- ISSN
- 2233-6079 (ISSN-L)
- 2233-6087
- PMC
- PMC4160584
- OpenAlex
- W2165026193
- Cited by
- 43
- References
- 30
- Citations by year
- 2026: 2 · 2025: 8 · 2023: 5 · 2022: 7 · 2021: 2 · 2020: 3 · 2019: 3 · 2018: 1 · 2017: 4 · 2016: 3 · 2015: 4 · 2014: 1
- FWCI
- 4.86
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Diabetes & Metabolism Journal (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- FTO, polycystic ovary syndrome, hyperandrogenemia, single nucleotide polymorphisms, rs1421085, rs17817449, rs8050136, genetic susceptibility, body mass index, free androgen index, free testosterone, young women, Korean women
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