CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: A systemic review and meta-analysis

Background and aim: To investigate the association between CYP17A1 (rs74357) polymorphism and the risk of Polycystic Ovary Syndrome (PCOS). Methods: Literature on the association of CYP17A1rs74357 gene polymorphism and susceptibility to PCOS was retrieved by searching databases such as PubMed, Science Direct, Google Scholar and Embase from. The association measure was analyzed using an Odds Ratio (OR) and 95% Confidence Interval (CI). All the statistical analyses were executed using CMA 3.0 Software. Results: In the present meta-analysis, 24 studies including 3462 PCOS and 2898 controls were analyzed. The overall results validated that the 17 CYP17A1 T/C (rs74357) gene polymorphism was significantly associated with PCOS risk in five genetic models: recessive model (fixed and random effect), dominant model (random effect), CC vs. TT (fixed effect), CT vs. TT (fixed effect), and allele contrast (random effect). Stratified analyses by ethnicity/country also detected significant association between Asian and Caucasian under the recessive, dominant, CC vs. TT, CC vs. CT, and the allele contrast models. Conclusions: In the present study, CYP17A1 T/C (rs74357) gene polymorphism increase the susceptibility of PCOS, and the recessive C allele, can be proposed as a predictive factor for the risk of PCOS or an important pathway in PCOS associated metabolic and hormonal imbalance especially insulin resistance. However, larger sample size and multiracial studies are needed in the future to confirm the findings. (www.actabiomedica.it)

[1]  G. Úrrutia,et al.  The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. , 2021, Revista espanola de cardiologia.

[2]  Ying-pu Sun,et al.  The single-nucleotide polymorphism rs743572 of CYP17A1 shows significant association with polycystic ovary syndrome: a meta-analysis. , 2021, Reproductive biomedicine online.

[3]  S. Riaz,et al.  Association of the CYP17 and CYP19 gene polymorphisms in women with polycystic ovary syndrome from Punjab, Pakistan , 2020, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[4]  E. Mayo-Wilson,et al.  The PRISMA 2020 statement: an updated guideline for reporting systematic reviews , 2020, BMJ.

[5]  Tajinder Kaur,et al.  Genetic association study from North India to analyze association of CYP19A1 and CYP17A1 with polycystic ovary syndrome , 2018, Journal of Assisted Reproduction and Genetics.

[6]  G. Delitala,et al.  Polycystic ovary syndrome, adipose tissue and metabolic syndrome , 2017, Archives of Gynecology and Obstetrics.

[7]  A. Dasgupta,et al.  A cross-sectional study to assess any possible linkage of C/T polymorphism in CYP17A1 gene with insulin resistance in non-obese women with polycystic ovarian syndrome , 2016, The Indian journal of medical research.

[8]  Li Li,et al.  Association of CYP17A1 gene -34T/C polymorphism with polycystic ovary syndrome in Han Chinese population , 2015, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[9]  A. Dasgupta,et al.  Assessment of CYP 17 Gene Polymorphism in Subjects with Polycystic Ovarian Syndrome and Central Obesity in an Indian Subpopulation , 2014 .

[10]  L. Bernstein,et al.  Variations in sex hormone metabolism genes, postmenopausal hormone therapy and risk of endometrial cancer , 2012, International journal of cancer.

[11]  S. Rogatto,et al.  Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome , 2012, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[12]  A. Bideci,et al.  Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome , 2009, Journal of Assisted Reproduction and Genetics.

[13]  M. Maliqueo,et al.  Polymorphism T --> C (-34 base pairs) of gene CYP17 promoter in women with polycystic ovary syndrome is associated with increased body weight and insulin resistance: a preliminary study. , 2008, Metabolism: clinical and experimental.

[14]  R. Holle,et al.  Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. , 2007, American journal of physiology. Endocrinology and metabolism.

[15]  M. McCarthy,et al.  Candidate genes in polycystic ovary syndrome. , 2001, Human reproduction update.

[16]  W. Trzeciak,et al.  Investigations on the genetic polymorphism in the region of CYP17 gene encoding 5′-UTR in patients with polycystic ovarian syndrome , 2001, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[17]  E. Diamanti-Kandarakis,et al.  A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile. , 1999, The Journal of clinical endocrinology and metabolism.

[18]  K. Baek,et al.  Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome. , 2008, International journal of molecular medicine.

[19]  G. Cerrone,et al.  [Polymorphism in CYP11alpha and CYP17 genes and the etiology of hyperandrogenism in patients with polycystic ovary syndrome]. , 2008, Medicina.

[20]  Tan Li Polymorphism of CYP17 gene in patients with polycystic ovary syndrome of Han nationality in China , 2005 .

[21]  Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. , 2004, Fertility and sterility.