# Exploring CYP17 Gene Polymorphism as a Predictive Marker in Iraqi Women with Polycystic Ovary Syndrome and Its Association with Hormonal Dysregulation: CYP17A1 Polymorphism in Iraqi women with PCOS

**Authors:** Saleh Ali Alqadoori, Nour Saeed Hassan, Farah Ali Dawood

PMC · DOI: 10.31661/gmj.vi.3746 · Galen Medical Journal · 2025-06-03

## TL;DR

This study investigates how a genetic variation in the CYP17A1 gene is linked to polycystic ovary syndrome (PCOS) in Iraqi women, showing a higher risk for those with a specific genotype.

## Contribution

The study identifies a significant association between the TT genotype of CYP17A1 and increased PCOS risk in the Iraqi population.

## Key findings

- The TT genotype of CYP17A1 is associated with a fourfold higher risk of PCOS compared to the CC genotype.
- The TT polymorphism showed a significant association with PCOS (adjusted OR=3.97, P=0.03).
- The CT genotype did not show a significant increase in PCOS risk.

## Abstract

Although most women of reproductive age diagnosed with polycystic
ovary syndrome (PCOS) represent a common disorder with significant long-term
health implications. Investigations on the CYP17A1 gene, which plays a pivotal
role in androgen biogenesis, explored its potential role as a predictive marker
for the risk of PCOS. This research was conducted to evaluate the association of
CYP17A1 polymorphism (rs743572 variant) with susceptibility to polycystic
ovarian syndrome (PCOS) among the Iraqi population.

We
executed a case-control study consisting of 66 PCOS patients and 74 controls.
Restriction Fragment Length Polymorphism (RFLP) was used to detect the
genotypes.

The TT genotype of CYP17A1 was significantly associated with
an increased risk of PCOS, with an approximately fourfold higher odds of
developing PCOS versus the CC genotype. No significant increase in risk was seen
for the CT genotype. The TT polymorphism of CYP17A1 (rs743572) was significantly
associated with PCOS (adjusted OR=3.97, P=0.03), while the CT variant showed a
non-significant trend, after adjusting for age and BMI.

The current
study, by providing further evidence for the association between CYP17A1 genetic
polymorphisms and PCOS in multi-ethnic populations, has important implications
for the management of this complex disorder, indicating the potential use of
genotyping in assessing the genetic risk of the disorder in different ethnic
groups.

## Linked entities

- **Genes:** CYP17A1 (cytochrome P450 family 17 subfamily A member 1) [NCBI Gene 1586]
- **Diseases:** polycystic ovary syndrome (MONDO:0008487), PCOS (MONDO:0008487)

## Full-text entities

- **Genes:** CYP17A1 (cytochrome P450 family 17 subfamily A member 1) [NCBI Gene 1586] {aka CPT7, CYP17, P450C17, S17AH}
- **Diseases:** PCOS (MESH:D011085)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs743572

## Full text

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## Figures

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## References

50 references — full list in the complete paper: https://tomesphere.com/paper/PMC12311568/full.md

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Source: https://tomesphere.com/paper/PMC12311568