Polycystic ovary syndrome and the single nucleotide polymorphisms of methylenetetrahydrofolate reductase: a pilot observational study

2007 ◽  
Vol 10 (1) ◽  
pp. 33-41 ◽  
Author(s):  
M. Palep-Singh ◽  
H. M. Picton ◽  
Z. R. Yates ◽  
J. Barth ◽  
A. H. Balen
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Polycystic Ovary Syndrome ◽  
Observational Study ◽  
Methylenetetrahydrofolate Reductase ◽  
Polycystic Ovary ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Single Nucleotide

scholarly journals Variants in the 5α-Reductase Type 1 and Type 2 Genes Are Associated with Polycystic Ovary Syndrome and the Severity of Hirsutism in Affected Women

2006 ◽  
Vol 91 (10) ◽  
pp. 4085-4091 ◽  
Author(s):  
Mark O. Goodarzi ◽  
Nissar A. Shah ◽  
Heath J. Antoine ◽  
Marita Pall ◽  
Xiuqing Guo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Los Angeles ◽  
Single Nucleotide Polymorphisms ◽  
Polycystic Ovary Syndrome ◽  
White Women ◽  
Polycystic Ovary ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Single Nucleotide ◽  
Control Subjects

Abstract Context: Despite the importance of dihydrotestosterone in androgen action, polymorphisms in the genes for the two isoforms of 5α-reductase (SRD5A1 and SRD5A2) have not been evaluated as risk factors for polycystic ovary syndrome (PCOS). Objective: The objective of the study was to test the hypothesis that haplotypes in the SRD5A1 and SRD5A2 genes are risk factors for PCOS and the severity of hirsutism in affected women. Design: PCOS and control subjects were genotyped for seven single-nucleotide polymorphisms in SRD5A1 and eight single-nucleotide polymorphisms in SRD5A2. Haplotypes were determined and tested for association with PCOS diagnosis and component phenotypes. Setting: Subjects were recruited from the reproductive endocrinology clinic at the University of Alabama at Birmingham; control subjects were recruited from the general surrounding community. Genotyping took place at Cedars-Sinai Medical Center in Los Angeles. Participants: A total of 287 White women with PCOS and 187 controls participated. Main Measurements: SRD5A1 and SRD5A2 genotype, quantitative hirsutism score, and hormonal and metabolic phenotypes were assessed. Results: Haplotypes within both genes were associated with PCOS risk. The Leu allele of the Val89Leu variant in SRD5A2 was associated with protection against PCOS; this allele is known to modestly reduce 5α-reductase activity. Haplotypes in SRD5A1 but not SRD5A2 were also associated with the degree of hirsutism in affected women. Conclusions: This study presents genetic evidence suggesting an important role of both isoforms of 5α-reductase in the pathogenesis of PCOS. That only SRD5A1 haplotypes were associated with hirsutism suggests that only this isoform is important in the hair follicle.

scholarly journals Association between Interleukin-32 and Interleukin-17A Single Nucleotide Polymorphisms and Serum Levels with Polycystic Ovary Syndrome

2019 ◽  
Author(s):  
Fatemeh Hesampour ◽  
Bahia Namavar Jahromi ◽  
Foroozan Tahmasebi ◽  
Behrouz Gharesi-Fard
Keyword(s):  
Serum Level ◽  
Single Nucleotide Polymorphisms ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Serum Levels ◽  
Nucleotide Polymorphisms ◽  
Iranian Women ◽  
Ovary Syndrome ◽  
Single Nucleotide ◽  
Interleukin 17A

Polycystic ovary syndrome (PCOS) is correlated with low-grade chronic inflammation. Interleukin-17A (IL-17A) and Interleukin-32 (IL-32) are two members of the pro-inflammatory cytokines which act as significant components of the immune system during certain inflammatory diseases. Along with immunological processes, genetic factors play major roles in predisposition to PCOS. There are myriad single nucleotide polymorphisms (SNPs) within IL-17A and IL-32 genes that may affect their production and the susceptibility of individuals to PCOS. The objective of the present research was to investigate the association between IL-17A (rs2275913) and IL-32 (rs9927163, rs4786370) SNPs, and also their serum levels with susceptibility to PCOS in a group of Iranian women. In this case-control study, 150 PCOS patients (mean age of 29.1 years) and 150 healthy women (mean age of 26.1 years) were analyzed in terms of IL-17A and IL-32 SNPs via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Furthermore, serum levels of IL-17A and IL-32 cytokines were measured through the use of ELISA method. There were significant differences between PCOS and healthy women regarding IL-17A rs2275913 alleles, genotypes frequencies (p=0.005, and 0.01, respectively) and the allelic distribution of IL-32 rs9927163 SNP (p=0.03). Additionally, significant differences were indicated between two groups concerning the AG genotype against AA+GG genotypes (p=0.009) and the GG genotype against AA+AG genotypes (p=0.006) in IL-17A rs2275913 SNP. In the matter of IL-32 gene SNPs, GC haplotype frequency was significantly different between patients and controls (p=0.05). Furthermore, IL-32 serum level was not significantly different between the two studied groups and the serum level of IL-17A was not detectable. In conclusion, IL-17A and IL-32 SNPs might be associated with predisposition to PCOS in Iranian women.

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