Association of Paraoxonase-1 L55M and Q192R Polymorphisms with Pcos Risk and Potential Risk Factors for Atherosclerosis

Abstract

Aim: To examine the PON1-L55M and -Q192R polymorphisms for polycystic ovary syndrome (PCOS) risk in relation with atherosclerosis risk markers. Methods: Blood samples were collected from 203 women (PCOS [n = 151], control [n = 52]). Genomic DNA was extracted and RFLP method was performed following the amplifications of the target regions. Results: Individuals with 192QR/192RR genotypes had a 2.5-fold increased risk of representing PCOS compared with the individuals with 192QQ genotype. Q192R was more strongly associated with PCOS than previously suggested atherosclerosis risk markers. Q192R status and body mass index values in combination were established to be a significant predictor of PCOS (AUC: 0.655, p = 0.001). Conclusion: This is one of the first studies suggesting the use of combination biomarkers to better predict the risk of developing PCOS.

Interplay between Oxidative Stress and Chronic Inflammation in PCOS: The Role of Genetic Variability in PCOS Risk and Treatment Responses

“…Women with AG or GG genotypes had a 2.5-fold increased risk of PCOS compared to AA genotype (p = 0.03) [60] Susceptibility Polymorphism was significantly associated with PCOS (for G allele vs. A allele: p = 0.02, for GG+AG vs. AA: p = 0.043) [56] Susceptibility GG genotype and G allele frequencies were higher in PCOS than in controls (p < 0.05 for all analyses)…”

Paraoxonase single nucleotide variants show associations with polycystic ovary syndrome: a meta-analysis

“…Figure 1 outlines the study selection process in a flowchart following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines (Table S2). Twenty-one citations from the initial search were filtered to yield 12 articles for inclusion [38][39][40][41][42][43][44][45][46][47][48][49], all of which examined SNVs in PON1 except Liu et al [48], which focused on rs7493 SNV in PON2.…”

“…Table 1 shows which studies were and were not included in the four previous meta-analyses [18][19][20][21]. Three articles [47][48][49] were new additions to the meta-analysis literature and account for the updated associations between PON variants and PCOS. The sole African study [41] was included in the overall LD2 analysis, but not in LD1 (where it was HWE-deviating) nor in subgroup analysis.…”

“…Gene-gene and gene-environment interactions have been reported to have roles in the associations of PON variants with PCOS. All 12 included articles acknowledged the role of environment but haplotype analysis was addressed in only four (33%) of the component studies [38,45,47,49]. In addition to PON, one article [48] examined SNVs in another gene (superoxide dismutase-2).…”

“…This cascade of impaired physiological events, as well as inflammatory responses to cellular injuries caused by oxidative stress, primes the pathophysiology of PCOS as inflammatory mediators that have been known to regulate PON expression [66] and contribute to PCOS pathogenesis [67]. Moreover, genetic combination analysis demonstrated that haplotypes containing the 192R allele was significantly associated with PCOS risk ranging from 1.6 to 8-fold [38,49].…”