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Background  The  G994T  polymorphism in platelet-activating factor acetylhydrolase ( PAF-AH ) gene is associated with the risk of polycystic ovary syndrome (PCOS). The aim of this study was to investigate the relationship between  R92H  and  A379V  variants of the  PAF-AH  gene and the risk of PCOS and to evaluate the effects of the genotypes on PAF-AH activities and clinical, metabolic and oxidative stress indexes in Chinese women.    Methods  A total of 862 patients with PCOS based on the Rotterdam consensus criteria and 750 control women from a population of Chinese Han nationality in the Chengdu area were studied from 2006–2015.  PAF-AH  genotypes were determined by PCR and restriction fragment length polymorphism analysis. Plasma PAF-AH, high-density lipoprotein (HDL)-associated PAF-AH (H-PAF-AH) and apolipoprotein (apo) B-containing lipoprotein-associated PAF-AH (apoB-PAF-AH) activities were measured using the trichloroacetic acid precipitation procedure with PAF C-16 as a substrate. Circulating markers of oxidative stress, including serum total oxidant status, total antioxidant capacity, oxidative stress index and malondialdehyde levels, and clinical and metabolic parameters were also analyzed.    Results  No significant differences were observed in the frequencies of  R92H  and  A379V  genotypes and alleles of the  PAF-AH  gene between PCOS and control groups ( P  > 0.05). Compared with patients with the  92RR  genotype, patients with  H  allele of  R92H  ( RH  +  HH  genotype) had significantly higher plasma PAF-AH and apoB-PAF-AH activities ( P  < 0.05) and tended to exhibit increased H-PAF-AH activity ( P  = 0.063) after adjusted for age and BMI. However, when serum LDL-C, HDL-C, TG and HOMA index were added as covariates, the comparisons no longer remained statistical significance ( P  > 0.05). There were no significant differences in clinical, hormonal, metabolic and circulating oxidative stress parameters and the frequencies of  PAF-AH G449T  genotype according to  PAF-AH R92H  or  A379V  genotyping in patients with PCOS and control women.    Conclusions  There were no significant associations between  R92H  and  A379V  variants of  PAF-AH  gene and risk of PCOS in Chinese women. The increased plasma PAF-AH and apoB-PAF-AH activities in patients with  H  allele of  R92H  are related to the  R92  →  H  variation, changes in plasma lipoprotein levels, insulin resistance, aging, and gaining weight and thus may be involved in the pathogenesis of PCOS and the increased risks of future cardiovascular diseases.

lipids in health and disease

Effect of the R92H and A379V genotypes of platelet-activating factor acetylhydrolase on its enzyme activity, oxidative stress and metabolic profile in Chinese women with polycystic ovary syndrome