Association of CYP17 gene polymorphism (rs743572) with polycystic ovary syndrome

The cytochrome P450 family 17 (CYP17) is associated with hyperandrogenism in women and the association between CYP17 gene polymorphism and the risk of polycystic ovary syndrome (PCOS) is not definitive. In order to determine whether the CYP17 T/C (rs74357) gene polymorphism is an exposure risk for PCOS, a comprehensive meta-analysis summarizing 19 studies was performed. The pooled odds ratio (OR) and the corresponding 95 % confidence interval (CI) were measured under 5 genetic models. And the stratified analyses by ethnicity, HWE, testosterone levels and BMI in controls was carried out to identify causes of substantial heterogeneity. The overall results validated that the CYP17 T/C (rs74357) gene polymorphism was significantly associated with PCOS risk in 4 genetic models. Moreover, the outcomes of subgroup analysis by ethnicity were indicated that the frequencies of C allele of the CYP17 T/C polymorphism were markedly higher in women from Asian than Caucasian (T versus C: OR 0.85, 95% CI =0.74–0.99, P < 0.05). Therefore, these findings suggested that the CYP17 T/C (rs74357) gene polymorphism played an indispensable part in increasing the susceptibility of PCOS when carrying the C allele, which proposed that the polymorphism of CYP17 gene may be a predictive factor for the risk of PCOS or an important pathway in PCOS associated metabolic and hormonal dysregulation.

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Association between Luteinizing Hormone/Choriogonadotropin Receptor Ins18LQ Gene Polymorphism and Polycystic Ovary Syndrome

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2020.4182 ◽

2020 ◽

Vol 8 (A) ◽

pp. 517-520

Author(s):

Hilma Putri Lubis ◽

Muhammad Fidel Ganis Siregar ◽

Ichwanul Adenin ◽

Binarwan Halim ◽

Henry Salim Siregar ◽

...

Keyword(s):

Luteinizing Hormone ◽

Polycystic Ovary Syndrome ◽

Gene Polymorphism ◽

Polycystic Ovary ◽

Control Group ◽

Control Groups ◽

Ovary Syndrome ◽

Significant Difference ◽

Pcos Group ◽

And Control

BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders of women in the childbearing period. However, its pathophysiology is still unclear. Certain polymorphisms of the luteinizing hormone/choriogonadotropin receptor (LHCGR) genes may lead to changes in the bioactivity of this hormone. The important functional role of LHCGR in the metabolism of androgen and ovulation, the LHCGR gene variant, may be related to the risk of PCOS. AIM: The aim of this study was to evaluate the association between LHCGR Ins18LQ gene polymorphism and PCOS. METHODS: A case–control study was performed in women with PCOS and non-PCOS from May 2019 to October 2019 in HFC IVF Center. We included 50 women with PCOS and 50 healthy controls. Polymorphism of the LHCGR (ins18LQ) gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: From this study, we found that there was no significant difference in the proportion of ages between the groups (p > 0.05). There were significant differences in the characteristics of body mass index, FSH level, LH level, and LH/FSH ratio between the PCOS and control groups (p < 0.05). We also found that the proportion of heterozygote variant non-ins/ins was higher in the PCOS group compared to the control group, but there was no significant difference between the polymorphisms of the non-ins and non-nonins variants between the PCOS and control groups (p = 0.269). The frequency of ins alleles was higher in the PCOS group compared to the control group. CONCLUSION: There was no significant association between LHCGR ins18LQ gene polymorphism and PCOS.

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