Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome

J Womens Health (Larchmt). 2010 Dec;19(12):2227-32. doi: 10.1089/jwh.2009.1902. Epub 2010 Nov 1.

Abstract

Objectives: To investigate the polymorphisms of the 17β-hydroxysteroid dehydrogenase type 5 and type 6 (HSD17B5 and HSD17B6) genes in Chinese women with polycystic ovary syndrome (PCOS).

Methods: Two hundred twenty-two PCOS patients and 283 controls were studied. Menarche age was recorded. Body mass indices (BMI) were calculated. Blood samples were obtained for single nucleotide polymorphism (SNP) analyses and hormone measurements. Genotyping of HSD17B6 and HSD17B5 in cases and controls was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Results: The SNP rs898611 of the HSD17B6 gene (TT, CT, CC) in women with PCOS (0.680, 0.270, 0.050, respectively) did not differ from those in controls (0.700, 0.258, 0.042, respectively), and the SNP rs3763676 of the HSD17B5 gene (AA, AG, GG) was rare in Chinese women. Total testosterone and other reproductive hormones, such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), LH/FSH, and estradiol (E(2)), were also similar among the different genotypes of the HSD17B6 in the PCOS subjects and the controls, whereas BMI was different in the three genotypes of the HSD17B6 in PCOS subjects.

Conclusions: Our data suggest that there is no association of HSD17B6 and HSD17B5 variants with the occurrence of PCOS in the Chinese population, but the polymorphism of SNP rs898611 is associated with BMI in PCOS patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics*
  • Adult
  • Aldo-Keto Reductase Family 1 Member C3
  • China / ethnology
  • Control Groups
  • Female
  • Genetic Markers / genetics
  • Genetic Testing / methods
  • Gonadotropins, Pituitary / analysis
  • Gonadotropins, Pituitary / blood
  • Humans
  • Hydroxyprostaglandin Dehydrogenases / genetics*
  • Menarche
  • Polycystic Ovary Syndrome / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length / genetics
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Racemases and Epimerases / genetics*
  • Testosterone / analysis
  • Testosterone / blood

Substances

  • Genetic Markers
  • Gonadotropins, Pituitary
  • Testosterone
  • 3-Hydroxysteroid Dehydrogenases
  • Hydroxyprostaglandin Dehydrogenases
  • AKR1C3 protein, human
  • Aldo-Keto Reductase Family 1 Member C3
  • HSD17B6 protein, human
  • Racemases and Epimerases