The single-nucleotide polymorphism rs743572 of CYP17A1 shows significant association with polycystic ovary syndrome: a meta-analysis
Reads0
Chats0
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
Citations
More filters
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
In-Silico Investigation of Effects of Single-Nucleotide Polymorphisms in PCOS-Associated CYP11A1 Gene on Mutated Proteins
Fatima Muccee,Osama Bijou,Steve Harakeh,Rabiatul Adawiyah,Rajat Sayyed,Leila Haghshenas,Dikhnah Alshehri,Mohammad Javed Ansari,Shakira Ghazanfar +8 more
TL;DR: Among the fifty-nine missense SNPs documented in present study, fifty-five and fifty-three were found to be deleterious according to SIFT and PolyPhen tools, respectively and can serve as potential biomarkers in human females for determining the probability of being predisposed to PCOS.
Journal ArticleDOI
Dibutyl Phthalate Adsorbed on Multiwalled Carbon Nanotubes Causes Fetal Developmental Toxicity in Balb/C Mice
TL;DR: The authors investigated whether using multiwalled carbon nanotubes (MWCNTs) as a carrier for dibutyl phthalate (DBP) could delay the degradation rate of DBP in mice and increase its estrogen-like interference effect.
Journal ArticleDOI
Abigene, a Prospective, Multicentric Study of Abiraterone Acetate Pharmacogenetics in Metastatic Castration-Resistant Prostate Cancer
Jean-Marc Ferrero,Hakim Mahammedi,Gwenaelle Gravis,Guilhem Roubaud,Philippe Beuzeboc,Rémi Largillier,Delphine Borchiellini,Claude Linassier,Nathalie Ebran,T. Pacé-Loscos,Marie-Christine Etienne-Grimaldi,Renaud Schiappa,Jocelyn Gal,Gérard Milano +13 more
TL;DR: In this paper , gene polymorphisms of CYP17A1 (AA direct target) and the androgen transporter genes SLCO2B1 (SLCO1B3) were confronted with AA pharmacodynamics (treatment response and toxicity) in a group of 137 advanced prostate cancer patients treated in the first line by AA.
Journal ArticleDOI
Beyond the Label: A Patient-Centred Approach to Polycystic Ovary Syndrome
TL;DR: Polycystic ovary syndrome is the most common endocrine disorder affecting women of reproductive age and is not one disease with a single pathophysiology but is instead a heterogeneous syndrome with several underlying biological mechanisms.
References
More filters
Journal Article
Cytochrome P450c17alpha gene (CYP17) polymorphism is associated with serum estrogen and progesterone concentrations.
Heather Spencer Feigelson,Lisa S. Shames,Malcolm C. Pike,Gerhard A. Coetzee,Frank Z. Stanczyk,Brian E. Henderson +5 more
TL;DR: It is shown that CYP17 genotype is associated with serum hormone levels among 83 young, nulliparous women, and direct evidence of genetic control of serum hormones levels is provided.
Journal ArticleDOI
Differential activity of the cytochrome P450 17α-hydroxylase and steroidogenic acute regulatory protein gene promoters in normal and polycystic ovary syndrome theca cells
Jessica K. Wickenheisser,Patrick G. Quinn,Velen L. Nelson,Richard S. Legro,Jerome F. Strauss,Jan M. McAllister +5 more
TL;DR: The results of these studies document that basal and cAMP-dependent CYP17 gene transcription is increased in PCOS theca cells, and that there is differential regulation of promoters of genes required for steroidogenesis inPCOS the Ca cells, which provide a model system for studying tissue-specific regulation of genes encoding steroidogenic enzymes.
Journal ArticleDOI
Steroid receptor coactivator expression throughout the menstrual cycle in normal and abnormal endometrium.
Christopher W. Gregory,Elizabeth M. Wilson,K.B.C. Apparao,Ruth A. Lininger,William R. Meyer,Ania Kowalik,Marc A. Fritz,Bruce A. Lessey +7 more
TL;DR: It is demonstrated that the expression of p160 coactivators are regulated in endometrium during the menstrual cycle in normal fertile women but are overexpressed in theendometrium of women with polycystic ovarian syndrome, a group that have a higher likelihood of developing estrogen-induced endometrial hyperplasia and cancer.
Journal ArticleDOI
Androgen biosynthesis from cholesterol to DHEA.
TL;DR: Study of these and related factors may yield important information about the pathophysiology of adrenarche and the polycystic ovary syndrome (PCOS).
Journal ArticleDOI
Alterations in mitogen-activated protein kinase kinase and extracellular regulated kinase signaling in theca cells contribute to excessive androgen production in polycystic ovary syndrome.
Velen L. Nelson-DeGrave,Jessica K. Wickenheisser,Karen L. Hendricks,Tomoichiro Asano,Midori Fujishiro,Richard S. Legro,Scot R. Kimball,Jerome F. Strauss,Jan M. McAllister +8 more
TL;DR: In PCOS cells reduced levels of activated MEK1/2 and ERK1-2 are correlated with increased androgen production, irrespective of the insulin concentration, and these findings implicate alterations in the MAPK pathway in the pathogenesis of excessive ovarian androgens production in PCOS.
Related Papers (5)
Polymorphism T→C of gene CYP17 promoter and polycystic ovary syndrome risk: a meta-analysis.
Fat Mass and Obesity Associated Gene Polymorphism and the Risk of Polycystic Ovary Syndrome: A Meta-analysis
Ying Liu,Yongxia Chen +1 more