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Background <p>Polycystic ovary syndrome (PCOS) is a complex endocrine disorder caused by the interplay of both genetic and lifestyle factors. Several case-control studies have investigated the link between variants of the fat mass and obesity associated (<i>FTO</i>) gene and PCOS; however, the findings are not conclusive.</p> Objective <p>The primary objective of this meta-analysis was to investigate the association between <i>FTO</i> gene variants and susceptibility to PCOS.</p> Methods <p>A thorough literature review was carried out in ScienceDirect, PubMed, and Google Scholar for research published by September 30, 2025. Ultimately, a total of 23 eligible studies, comprising 20 with Asian participants, five with Caucasian participants, two with African participants, and one with mixed ethnicities, were included to extract genotype data related to PCOS and <i>FTO</i> gene variants, rs1421085, rs8050136 and rs9939609. The association strength was evaluated by calculating Odds ratios (ORs) along with their respective 95% confidence intervals (CIs).</p> Results <p>The pooled data revealed statistically significant evidence supporting a modestly elevated susceptibility to PCOS for rs9939609 (AA vs. AT + TT: OR = 1.56; 95% CI = 1.17–2.07; <i>p</i> = 0.002), rs8050136 (AA vs. CA + CC: OR = 1.36, 95% CI = 1.11–1.68, <i>p</i> = 0.004) and rs1421085 (CC vs. CT + TT: OR = 1.26, 95% CI = 1.01–1.56, <i>p</i> = 0.036) variants in overall population. No publication bias was detected for these three genetic variants.</p> Conclusion <p>The <i>FTO</i> variants are linked to an increased risk of PCOS. As <i>FTO</i> single nucleotide polymorphisms (SNPs) are influenced epigenetically by multiple mechanisms impacting metabolism, further research should consider incorporating genotype as a crucial element in the epigenetic analysis of the relationship between <i>FTO</i> genetic variants and PCOS susceptibility.</p>

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FTO gene variants are associated with the increased risk of polycystic ovary syndrome: a meta-analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月29日

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  • Laxminarayan Sahoo,
  • Ashish Mishra,
  • LVKS Bhaskar

摘要

Background

Polycystic ovary syndrome (PCOS) is a complex endocrine disorder caused by the interplay of both genetic and lifestyle factors. Several case-control studies have investigated the link between variants of the fat mass and obesity associated (FTO) gene and PCOS; however, the findings are not conclusive.

Objective

The primary objective of this meta-analysis was to investigate the association between FTO gene variants and susceptibility to PCOS.

Methods

A thorough literature review was carried out in ScienceDirect, PubMed, and Google Scholar for research published by September 30, 2025. Ultimately, a total of 23 eligible studies, comprising 20 with Asian participants, five with Caucasian participants, two with African participants, and one with mixed ethnicities, were included to extract genotype data related to PCOS and FTO gene variants, rs1421085, rs8050136 and rs9939609. The association strength was evaluated by calculating Odds ratios (ORs) along with their respective 95% confidence intervals (CIs).

Results

The pooled data revealed statistically significant evidence supporting a modestly elevated susceptibility to PCOS for rs9939609 (AA vs. AT + TT: OR = 1.56; 95% CI = 1.17–2.07; p = 0.002), rs8050136 (AA vs. CA + CC: OR = 1.36, 95% CI = 1.11–1.68, p = 0.004) and rs1421085 (CC vs. CT + TT: OR = 1.26, 95% CI = 1.01–1.56, p = 0.036) variants in overall population. No publication bias was detected for these three genetic variants.

Conclusion

The FTO variants are linked to an increased risk of PCOS. As FTO single nucleotide polymorphisms (SNPs) are influenced epigenetically by multiple mechanisms impacting metabolism, further research should consider incorporating genotype as a crucial element in the epigenetic analysis of the relationship between FTO genetic variants and PCOS susceptibility.