POLYMORPHISMS AND HAPLOTYPE OF MITOCHONDRIAL DNA CONTROL REGION ARE ASSOCIATED WITH POLYCYSTIC OVARY SYNDROME IN A CHINESE POPULATION

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.

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Identification of Variants in Mitochondrial D-Loop and OriL Region and Analysis of Mitochondrial DNA Copy Number in Women with Polycystic Ovary Syndrome

DNA and Cell Biology ◽

10.1089/dna.2019.5323 ◽

2020 ◽

Vol 39 (8) ◽

pp. 1458-1466

Author(s):

Pallavi Shukla ◽

Srabani Mukherjee ◽

Anushree Patil

Keyword(s):

Mitochondrial Dna ◽

Polycystic Ovary Syndrome ◽

Copy Number ◽

Polycystic Ovary ◽

Dna Copy Number ◽

Ovary Syndrome ◽

Mitochondrial Dna Copy Number ◽

D Loop

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Association of Serum Heavy Metals and Trace Element Concentrations with Reproductive Hormone Levels and Polycystic Ovary Syndrome in a Chinese Population

Biological Trace Element Research ◽

10.1007/s12011-015-0294-7 ◽

2015 ◽

Vol 167 (1) ◽

pp. 1-10 ◽

Cited By ~ 26

Author(s):

Guanchao Zheng ◽

Lijun Wang ◽

Zhizhun Guo ◽

Lingbin Sun ◽

Lingling Wang ◽

...

Keyword(s):

Heavy Metals ◽

Polycystic Ovary Syndrome ◽

Trace Element ◽

Chinese Population ◽

Polycystic Ovary ◽

Reproductive Hormone ◽

Ovary Syndrome ◽

Hormone Levels ◽

Element Concentrations

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Impact of mitochondrial DNA copy number and displacement loop alterations on polycystic ovary syndrome risk in south Indian women

Mitochondrion ◽

10.1016/j.mito.2017.12.010 ◽

2019 ◽

Vol 44 ◽

pp. 35-40 ◽

Cited By ~ 8

Author(s):

Tumu Venkat Reddy ◽

Suresh Govatati ◽

Mamata Deenadayal ◽

Shivaji Sisinthy ◽

Manjula Bhanoori

Keyword(s):

Mitochondrial Dna ◽

Polycystic Ovary Syndrome ◽

Copy Number ◽

Polycystic Ovary ◽

Dna Copy Number ◽

Ovary Syndrome ◽

Indian Women ◽

Mitochondrial Dna Copy Number ◽

South Indian

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Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome

Frontiers in Endocrinology ◽

10.3389/fendo.2021.675581 ◽

2021 ◽

Vol 12 ◽

Author(s):

Mujin Ye ◽

Bin Hu ◽

Weihui Shi ◽

Fei Guo ◽

Chenming Xu ◽

...

Keyword(s):

Mitochondrial Dna ◽

Polycystic Ovary Syndrome ◽

Peripheral Blood ◽

Polycystic Ovary ◽

Follicle Stimulating Hormone ◽

The Body ◽

Mtdna Copy Number ◽

Ovary Syndrome ◽

Linear Dose ◽

Deletion Rate

BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder worldwide. We aimed to examine the associations of two mitochondrial DNA (mtDNA) biomarkers in the peripheral blood, mtDNA copy number (CN), and mtDNA4977 deletion rate (DR), with PCOS in a clinical setting.MethodsWe performed a study involving 263 women with PCOS and 326 age-matched controls between June 2015 and June 2019. The mtDNA CN and mtDNA4977 DR were measured using multiplex probe-based qPCR. The associations of the mtDNA CN and mtDNA4977 DR with the risk of PCOS were estimated using logistic regression.ResultsAnalysis of the associations between mtDNA biomarkers and PCOS indicate that the mtDNA CN (P = 0.003) and mtDNA4977 DR (P < 0.001) in PCOS patients were significantly higher than those in the controls. After adjusting for the body mass index, luteinizing hormone/follicle-stimulating hormone ratio, and testosterone level, only higher mtDNA4977 DR was associated with PCOS (odds ratio 1.053, 95% confidence interval 1.024 to 1.083; P < 0.001). The linear dose-response trends of the mtDNA4977 DR were also supported by the quartile analysis.ConclusionMultivariable models suggest that mtDNA4977 DR levels are strongly associated with PCOS and represent an independent risk factor for PCOS. Further investigation of the utility of mtDNA as a biomarker for PCOS is warranted.

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