Association of the polymorphism of codon 121 in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene with polycystic ovary syndrome in Chinese women

OBJECTIVE: To determine the association of polymorphism of codon 121 in the ecto-nucleotide pyrophophastase/phosphodiesterase 1 (E-NPP1/PC-1) gene in Chinese women with polycystic ovary syndrome (PCOS).

METHODS: A total of 51 PCOS patients and 61 healthy women from the Chinese Han population from the Center Reproductive Medicine of Provincial Hospital affiliated to Shandong University from June 2005 to July 2006 were recruited for the determination of the polymorphism of the E-NPP1/PC-1 gene. Genomic DNA was extracted from peripheral blood monocytes of patients and controls, and genotyping of the gene was performed by using polymerase chain reaction, which was followed by sequencing.

RESULTS: The frequency of the 121Q allele was 13 and 18%, respectively, in PCOS patients and healthy women, while the frequency of the 121K allele was 87 and 82% in the 2 groups. There is no significant difference in the E-NPP1/PC-1 polymorphism between PCOS patients and healthy controls among Chinese Han women.

CONCLUSION: Ecto-nucleotide pyrophophastase/phosphodiesterase 1 polymorphism has no association with PCOS. Further studies are still needed to elucidate whether or not the E-NPP1/PC-1 gene has a functional role in PCOS.