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Background  Elevated serum levels of apolipoprotein (apo) C1 may be an early protein marker of metabolic abnormality in women with polycystic ovary syndrome (PCOS). It is not clear, however, whether there are any relationships between the  apoC1 rs4420638A/G  and  -317deletion (H1)/insertion (H2)  polymorphisms and PCOS. We investigated the relationship between these two variants and the risk of PCOS, evaluated the genotypic effects on clinical, hormonal and metabolic indexes and plasma platelet-activating factor acetylhydrolase (PAF-AH) activity, and defined the association of  apoC1  gene variants with  apoE ε2/ε3/ε4  polymorphisms.    Methods  This is a cross-sectional study of 877 women with PCOS and 761 controls. The  apoC1 rs4420638A/G  genotype was determined by a Taqman real-time PCR allelic discrimination assay. The  apoC1–317H1/H2  and  apoE ε2/ε3/ε4  genotypes were measured using PCR and restriction fragment length polymorphism analysis. The clinical, hormonal and metabolic parameters and PAF-AH activity were measured.    Results  The frequencies of  apoC1 rs4420638A/G  and  -317H1/H2  genotypes and alleles were similar between PCOS and control groups ( P  > 0.05). However, the  rs4420638 G  allele was related to increased serum luteinizing hormone, cholesterol and apoB levels, and the ratio of apoB to apoA1 ( P  < 0.05), and the  -317H1H1  genotype was associated with a higher acne grade score and a higher ratio of apoB-PAF-AH to H-PAF-AH activity ( P  < 0.05) in patients with PCOS. We also demonstrated that the  apoC1 rs4420638A/G  and  -317H1/H2  gene variants existed in moderate to reasonably high linkage disequilibrium with  apoE ε2/ε3/ε4  polymorphisms in Chinese women.    Conclusion  The  apoC1 rs4420638A/G  and  -317H1/H2  gene variants might be involved in endocrine abnormalities of reproductive axis, metabolic abnormalities and chronic inflammation in PCOS, although no association was observed between the apoC1 genetic variants and the risk of PCOS in Chinese women.

Effects of apoC1 genotypes on the hormonal levels, metabolic profile and PAF-AH activity in Chinese women with polycystic ovary syndrome