Identifying genes associated with the development of human polycystic ovary syndrome

Saddick, Salina

doi:10.1016/j.sjbs.2020.01.012

Cited by 18 publications

(14 citation statements)

References 81 publications

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“…In recent years, a large number of studies have shown that genetic factors play a role in the etiology of PCOS [ 25 , 32 , 33 ], the contribution of heritability of this disorder has been explained based on the approaches used in the twin and linkage studies [ 20 ]. In a discovery cohort, FKBP4 (a kind of androgen receptor gene) SNPs rs2968909 and rs4409904 were associated with lower odds of PCOS [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

“…Additionally, a T/C polymorphism was also reported among the Chinese population in the CYP17A gene: affected females having the CC genotype had increased testosterone levels compared to individuals harboring the TC and TT genotypes. Additional genes with PCOS-associations include the androgen receptor ( AR ) gene, the sex hormone-binding globulin ( SHBG ) gene, and the insulin-like factor 3 ( INSL3 ) gene [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Wang

Zhang

et al. 2022

BMC Med Genomics

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Background Polycystic ovary syndrome (PCOS) is a common endocrine disorder in premenopausal women, whose etiology remains uncertain, although it is known to be highly heterogeneous and genetically complex. PCOS often presents with hyperandrogenism symptoms. The present study aimed to determine whether polymorphisms in the FK-506 binding protein 5 (FKBP5) gene (androgen target gene) are associated with an association for PCOS and hyperandrogenism. Methods This is a case–control study, and association analyses were conducted. A total of 13 single-nucleotide polymorphisms (SNPs) in the FKBP5 gene were evaluated in 775 PCOS patients who were diagnosed based on the Rotterdam Standard and 783 healthy Chinese Han women. Associations between FKBP5 SNPs and hormone levels were investigated. These 13 SNPs were genotyped using the Sequenom MassARRAY system, and an association analysis between the phenotype and alleles and genotypes were conducted. Results The genotype frequencies for the rs1360780 and rs3800373 SNPs differed significantly between the PCOS cases and healthy controls (p = 0.025, OR is 1.63 (1.05–2.53) and p = 0.029, OR is 1.59 (1.03–2.45) respectively under co-dominant model). Moreover, the genotype frequencies and genetic model analysis for the SNPs rs1360780, rs9470080, rs9296158, rs1043805 and rs7757037 differed significantly between the hyperandrogenism and non-hyperandrogenism groups of PCOS patients. The TT genotype of rs1360780, the TT genotype of rs9470080, the TT genotype of rs1043805 or the GG genotype of rs7705037 (ORs are 2.13 (1.03–4.39), 1.81 (1.03–3.17), 2.94 (1.32–6.53) and 1.72 (1.04–2.84) respectively) were correlated with androgen level of PCOS patients. Conclusion Our study showed that FKBP5 gene polymorphisms are associated with PCOS generally (rs1360780 and rs3800373) and with the hyperandrogenism subtype specifically (rs1360780, rs9470080, rs9296158, rs1043805 and rs7757037).

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Wang

Zhang

et al. 2022

BMC Med Genomics

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“…HA is one of the reasons for the low serum SHBG levels. 8 A meta-analysis revealed that obesity-related metabolic abnormalities in women with PCOS were associated with significantly reduced SHBG levels. 9 Since adolescents and children are increasingly becoming obese, obesity could affect the development of adolescent girls and increase PCOS risk.…”

Section: Introductionmentioning

confidence: 99%

Effect of Sex Hormone-Binding Globulin on Polycystic Ovary Syndrome: Mechanisms, Manifestations, Genetics, and Treatment

Xing¹,

Zhang²,

Zhao³

et al. 2022

IJWH

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Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases causing infertility in women of childbearing age. It is characterized by hyperandrogenemia (HA), chronic anovulation, and polycystic ovary morphology (PCOM). Most women with PCOS have metabolic abnormalities. Sex hormone-binding globulin (SHBG), a transport carrier that binds estrogen and androgens and regulates their biological activity, is usually used as an indicator of hyperandrogenism in women with PCOS. Low serum SHBG levels are considered a biomarker of metabolic abnormalities and are associated with insulin resistance (IR), HA, and abnormal glucose and lipid metabolism in PCOS patients. SHBG is also related to the long-term prognosis of PCOS, whereas SHBG gene polymorphism is associated with PCOS risk. In addition, the administration of metformin (MET), glucagon-like peptide-1 receptor agonists (GLP-1 RAs), thiazolidinediones (TZDs), compound oral contraceptives (COCs), as well as nutrient supplements such as inositol (MI), vitamin D, and synbiotics can regulate SHBG levels to ameliorate PCOS complications and improve prognosis. This review focuses on the interaction between SHBG and various PCOS complications as well as the regulation of SHBG by various drugs and nutrients and its therapeutic effects on PCOS.

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“…Previous genetic association studies have found that a large number of genetic variations are related to PCOS susceptibility, and genetic factors may greatly impact the occurrence of PCOS ( Saddick, 2020 ). Single nucleotide polymorphisms (SNPs) might reveal functional changes caused by amino acid variation or gene expression regulation.…”

Section: Introductionmentioning

confidence: 99%

The Association of CYP17A1, CYP19A1, and SHBG Gene Polymorphisms in Polycystic Ovary Syndrome Susceptibility: A Systematic Review and Meta-Analysis

et al. 2022

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Objective: To elucidate the relationship between CYP17A1/CYP19A1/SHBG gene polymorphisms and PCOS susceptibility.Methods: We searched multiple databases from inception to December 2020 and meta analysis was conducted to elucidate the relationship between gene polymorphisms and PCOS risk.Results: 26 studies were included, comprising 4860 PCOS and 4043 controls. CYP17A1 rs743572 polymorphisms were found to be negatively associated with PCOS risk under dominant model (p = 0.017, OR = 0.83, 95%CI 0.72–0.97, I2 = 74.80%, Pheterogeneity = 0.000) in the general population while neither CYP19A1 rs2414096 polymorphisms (p = 0.578, OR = 0.87, 95%CI 0.54–1.41, I2 = 95.90%, Pheterogeneity = 0.000) nor SHBG rs6529 polymorphisms (p = 0.752, OR = 0.99, 95%CI 0.94–1.05, I2 = 60.90%, Pheterogeneity = 0.012) was associated with PCOS susceptibility under dominant model in the general population.Conclusion: CYP17A1 rs7435721 polymorphisms might be protective factors against PCOS in general populations.Systematic Review Registration: https://www.crd.york.ac.uk/prospero/#myprospero, identifier CRD4202122640.

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Identifying genes associated with the development of human polycystic ovary syndrome

Cited by 18 publications

References 81 publications

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Association of SNPs in the FK-506 binding protein (FKBP5) gene among Han Chinese women with polycystic ovary syndrome

Effect of Sex Hormone-Binding Globulin on Polycystic Ovary Syndrome: Mechanisms, Manifestations, Genetics, and Treatment

The Association of CYP17A1, CYP19A1, and SHBG Gene Polymorphisms in Polycystic Ovary Syndrome Susceptibility: A Systematic Review and Meta-Analysis

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