The single-nucleotide polymorphism rs743572 of CYP17A1 shows significant association with polycystic ovary syndrome: a meta-analysis
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TLDR
The rs743572 T>C mutation was most likely to be associated with PCOS risk under the recessive model, and the mutant genotype CC may increase susceptibility to PCOS in Caucasians rather than Asians.Abstract:
Polycystic ovary syndrome (PCOS) is a multifactorial reproductive and endocrine disease, believed to be caused by aberrant steroid biosynthesis pathways involving cytochrome P450, 17α-hydroxylase (CYP17A1). This meta-analysis aimed to evaluate the association between CYP17A1 polymorphism rs743572 and PCOS risk. Studies on the CYP17A1 gene were retrieved by searching PubMed, Embase and Web of Science and statistical analyses were performed by STATA software. Fifteen eligible studies were included, dated from January 1994 to 19 November 2020, involving 2277 patients with PCOS and 1913 control individuals. Overall, the results showed that the rs743572 T>C mutation was most likely to be associated with PCOS risk under the recessive model, which was further confirmed by heterogeneity analysis and publication bias detection (CC versus CT + TT, odds ratio [OR] 1.24, 95% confidence interval [CI] 1.02–1.50, P = 0.028, I² = 35.9%). Moreover, subgroup analysis by ethnicity demonstrated that Caucasian but not Asian women carrying the CC genotype of rs743572 had an elevated risk of PCOS (CC versus CT + TT, OR 1.45, 95% CI 1.03–2.06, P = 0.035, I² = 15.10%, six studies). In conclusion, rs743572 is highly likely to be a risk factor for PCOS, and the mutant genotype CC may increase susceptibility to PCOS in Caucasians rather than Asians.read more
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Diagnostic criteria for polycystic ovary syndrome
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References
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Diagnostic criteria for polycystic ovary syndrome
TL;DR: It is suggested that ultrasound, laparoscopic, hormonal and endometrial parameters should be employed as diagnostic criteria for ovarian polycystosis.
Journal ArticleDOI
Polycystic Ovary Syndrome (PCOS): Arguably the Most Common Endocrinopathy Is Associated with Significant Morbidity in Women
Enrico Carmina,Rogerio A. Lobo +1 more
TL;DR: A cohort of women with PCOS who were followed for many years after wedge resection revealed several important findings by the time they reached the age of menopause, including that their symptoms of PCOS had persisted over this time, they had a later menopsause, and they had experienced a higher hysterectomy rate.
Journal ArticleDOI
Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
A. H. Carey,Dawn Waterworth,Kirty Patel,Davinia White,Julie Little,Patricia Novelli,Stephen Franks,Robert Williamson +7 more
TL;DR: Variation in the A2 allele of the CYP17 gene is a significant factor modifying the expression of PCO/MPB in families where it has been demonstrated to segregate as a single gene disorder, but it is excluded as the primary genetic defect.
Journal ArticleDOI
Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21.
TL;DR: The human P450XVIIA1 gene lying on chromosome 10 is cloned and sequenced, which encodes P450c17, a single cytochrome P450 enzyme mediating both 17 alpha-hydroxylase and 17,20 lyase activities in the biosynthesis of steroid hormones.
Journal ArticleDOI
Endometrium in PCOS: Implantation and predisposition to endocrine CA
TL;DR: Evaluated estrogen, elevated estrogen (without the opposing effects of progesterone in the absence of ovulation), hyperinsulinemia, elevated free IGF-I and androgens, and obesity all likely contribute to endometrial dysfunction, infertility, increased miscarriage rate,endometrial hyperplasia, and Endometrial cancer common in women with PCOS.
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