scholarly journals Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome

2010 ◽  
Vol 21 (3) ◽  
pp. 344-348 ◽  
Author(s):  
Binbin Wang ◽  
Sirui Zhou ◽  
Jing Wang ◽  
Jingjing Liu ◽  
Feng Ni ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Missense Mutations ◽  
Ovary Syndrome

scholarly journals Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Wanqin Feng ◽  
Yan Zhang ◽  
Yuan Pan ◽  
Yi Zhang ◽  
Minjuan Liu ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Polycystic Ovary Syndrome ◽  
Mediation Analysis ◽  
Homocysteine Level ◽  
Polycystic Ovary ◽  
Linear Regression Analysis ◽  
Dependent Manner ◽  
Missense Mutations ◽  
Ovary Syndrome ◽  
Southern Chinese

Abstract Background The etiology between homocysteine and polycystic ovary syndrome (PCOS) is unclear. In humans, the level of homocysteine is mainly affected by two enzymes: methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR). While the activity of these two enzymes is mainly affected by three missense mutations, namely C677T (MTHFR), A1298C (MTHFR), and A66G (MTRR). This study aims to examine the association between the three missense mutations and PCOS and investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level. Methods A case-control study was designed, comprising 150 people with PCOS and 300 controls. Logistic regression analysis was used to assess the association between the three missense mutations and PCOS. Linear regression analysis was used to assess the association between the three missense mutations and the homocysteine level. Mediation analysis was used to investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level. Results Following adjustments and multiple rounds of testing, MTHFR A1298C was found to be significantly associated with PCOS in a dose-dependent manner (compared to AA, OR = 2.142 for AC & OR = 3.755 for CC; P < 0.001). MTRR A66G was nominally associated with PCOS. Mutations in MTHFR A1298C and MTRR A66G were significantly associated with the homocysteine level. Mediation analysis suggested the effect of MTHFR A1298C on PCOS was mediated by homocysteine. Conclusions MTHFR A1298C and MTRR A66G were associated with PCOS, and MTHFR A1298C might affect the risk of PCOS by influencing the homocysteine level.

scholarly journals Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population

2015 ◽  
Vol 172 (3) ◽  
pp. 227-233 ◽  
Author(s):  
Rong Ju ◽  
Wei Wu ◽  
Juan Fei ◽  
Yufeng Qin ◽  
Qiuqin Tang ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Chinese Population ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Control Group ◽  
Model Assessment ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Significant Difference ◽  
High Level

ObjectiveTo assess whether single nucleotide polymorphisms of HSD17B5 (AKR1C3) (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in a Chinese population.DesignA case–control study was conducted to investigate the relation between HSD17B5 and HSD17B6 polymorphisms and PCOS.MethodsIn this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected by the TaqMan method.Results and conclusionsWe found that the genotypic frequencies of the rs1937845 polymorphism were different in subjects with PCOS compared with control, with the CT genotype being more commonly found in patients with PCOS than in controls (P=0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS vs the control group (adjusted odds ratio (OR), 1.74; 95% CI=1.19–2.54; P=0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47; 95% CI=1.07–2.03; P=0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P=0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in patients with PCOS. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and T allele frequency are influenced significantly to a higher extent in patients with PCOS than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.

Elevated Circulating Levels of Carnal ENST00000550337.1 Are Associated with Polycystic Ovary Syndrome in Chinese Women

2021 ◽  
pp. 1-7
Author(s):  
Yujuan Qi ◽  
Qianqian Yin ◽  
Juan Gu ◽  
Ying Liu ◽  
Qingqing Sun ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Peripheral Blood ◽  
Noncoding Rna ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Threshold Value ◽  
Expression Level ◽  
Ovary Syndrome ◽  
Blood Leukocytes ◽  
Cross Sectional

Objectives: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disease. Some studies reported that the development of PCOS may be closely related to insulin resistance (IR). Interestingly, the long noncoding RNA (lncRNA) ENST00000550337.1 in peripheral blood is mainly involved in glucose metabolism. Therefore, the purpose of our study was to explore the relationship between lncRNA ENST00000550337.1 level and PCOS patients. Materials and Methods: Seventy-five PCOS patients and 72 healthy controls were enrolled in this study. We used qRT-PCR to detect the expression level of lncRNA ENST00000550337.1 in peripheral blood leukocytes from patients with PCOS. We also investigated potential relationships between lncRNA ENST00000550337.1 and the endocrine parameters in PCOS. Results: We observed that the expression of lncRNA ENST00000550337.1 in PCOS patients was significantly higher than that in the control subjects and positively correlated with PCOS occurrence, waist circumference, waist-hip ratio, IR, fasting insulin levels, and blood glucose. The expression of lnc RNA ENST00000550337.1 was positively correlated with PCOS (p = 0.003). There were independent correlations between IR and expression of lncRNA ENST00000550337.1 in patients with PCOS. Patients with elevated lncRNA ENST00000550337.1 expression had significantly increased PCOS risk after adjusting for age and BMI. LncRNA ENST00000550337.1 expression level provided a sensitivity of 81.3% and a specificity of 78.1% with a threshold value of 6.4648 for the prediction of PCOS. The area under the ROC was 0.813. Limitations: There are some limitations to this study. First, the sample size was limited and the causal relationship between lncRNA ENST00000550337.1 and PCOS was not investigated due to the cross-sectional study design. Second, HOMA-IR does not fully accurately reflect the IR of patients. Conclusions: The present study indicated that lnc RNA ENST00000550337.1 was related to PCOS occurrence, and elevated levels may be a risk factor for PCOS women. In addition, lncRNA ENST00000550337.1 might promote PCOS development partially by increasing IR and can be used as a potential molecular marker in patients with PCOS.

scholarly journals Abnormal glucose tolerance in Chinese women with polycystic ovary syndrome

2006 ◽  
Vol 21 (8) ◽  
pp. 2027-2032 ◽  
Author(s):  
Xiaoli Chen ◽  
Dongzi Yang ◽  
Lin Li ◽  
Shuying Feng ◽  
Liangan Wang
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Glucose Tolerance ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Abnormal Glucose Tolerance ◽  
Ovary Syndrome
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