title: Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome.
abstract: OBJECTIVE
  To search for FSH beta-subunit gene mutations in patients with polycystic ovary syndrome (PCOS) and determine the association between the mutations and the syndrome.
  
  
  METHODS
  Clinical and molecular studies.
  
  
  METHODS
  Clinics and laboratories of the National University Hospital Obstetrics and Gynecology Department in Singapore.
  
  
  METHODS
  One hundred thirty-five patients with PCOS and 105 normal control subjects.
  
  
  METHODS
  Exons two and three were screened for mutations by single-stranded conformational polymorphism and DNA sequencing.
  
  
  METHODS
  Polymerase chain reaction followed by restriction enzyme analysis.
  
  
  RESULTS
  No missense mutation was found in the functional units of the FSHbeta gene in patients with PCOS, but a thymine-cytosine substitution in exon 3 (codon 76, TAT to TAC) was identified. The nucleotide change led to creation of an AccI digestion site. The distribution pattern of AccI polymorphism in the patients was significantly different from that in the control group, and the occurrence of homozygous carriers was significantly higher in patients (12.6%) than in the control group (3.8%). The frequency of polymorphism and prevalence of homozygosity were significantly higher in patients with PCOS with obesity (0.50% and 31.0%, respectively) than in those with menstrual disorders only (0.366% and 8.5%, respectively), which correlated with significantly higher androgen levels in the obese patients.
  
  
  CONCLUSIONS
  The AccI polymorphism in FSHbeta gene may be associated with PCOS in some women, especially those with obesity.
authors: Department of Obstetrics and Gynaecology, National University of Singapore, National University Hospital, Singapore.
authors: Y
authors: Y
authors: Tong
authors: W X
authors: WX
authors: Liao
authors: A C
authors: AC
authors: Roy
authors: S C
authors: SC
authors: Ng
mesh_terms: D000152:Acne Vulgaris / Q000150:complications; D005260:Female; D005640:Follicle Stimulating Hormone / Q000235:genetics*; D037201:Follicle Stimulating Hormone, beta Subunit; D005787:Gene Frequency; D006628:Hirsutism / Q000150:complications; D006720:Homozygote; D006801:Humans; D008599:Menstruation Disturbances / Q000150:complications; D009765:Obesity / Q000150:complications; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012016:Reference Values
chemical_list: D037201:Follicle Stimulating Hormone, beta Subunit; D005640:Follicle Stimulating Hormone