OBJECTIVE: Evidence indicates that the CYP19 gene is a positional and functional candidate for genetic study in polycystic ovarian syndrome (PCOS). The present study aims to evaluate the association between tetranucleotide TTTA repeat polymorphism in the CYP19 gene and PCOS among Han Chinese women.
METHODS: Clinical materials employed in this study consist of 123 patients with PCOS and 113 healthy controls. The CYP19 tetranucleotide TTTA repeat polymorphism was genotyped with a protocol of PCR and fluorescent capillary electrophoresis.
RESULTS: Common allele of the CYP19 tetranucleotide TTTA repeat polymorphism in this population of Han Chinese women was 11R. The frequency of 11R in PCOS was lower than in the control subjects (34.55% vs 42.92%, p=0.046). The carriers with allele 11R in PCOS had decreased CHO (5.00+/-0.63 vs 6.14+/-0.85 mmol/L, p=0.012). The carriers with allele 7R-TCT in PCOS had increased CHO (5.96+/-0.83 vs 5.08+/-0.65 mmol/L, p=0.027) and LDL (5.11+/-0.77 vs 4.31+/-0.66 mmol/L, p=0.014) compared to the patients carrying other alleles.
CONCLUSIONS: The most common allele of the tetranucleotide TTTA repeat polymorphism in the forth intron of CYP19 gene in Han Chinese women is 11R, which was different with the previous study in European Caucasians. Allele 11R may be associated with PCOS in the population of Han Chinese women, and it may refrain from the hypercholesteremia of PCOS. Allele 7R-TCT may be related to the lipid metabolism of PCOS. This CYP19 tetranucleotide TTTA repeat polymorphism is an ethnic and racial variant and moderately contributes to the pathogenesis of PCOS in the population of Han Chinese women.