title: Genetic variation in the CYP17 gene and recurrent spontaneous abortions.
abstract: OBJECTIVE
  The CYP17 gene encodes the enzyme cytochrome P450c17α, which functions at key steps in the synthesis process of human sex steroid hormones. A T/C polymorphism in the 5' promoter region of the CYP17 gene has been described previously. Serum levels of androgens and estrogens have been shown to be elevated in individuals who carry the C substitution (Α2 allele). We hypothesized that variability in genes that control the sex hormone (estrogens, testosterone) biosynthesis might affect the pregnancy outcome. In the present study, we investigated the possible association between the T/C polymorphism of the promoter of CYP17 gene and the risk of recurrent spontaneous abortions in the Greek population.
  
  
  METHODS
  In the prospective case-control study, 148 patients and 134 healthy controls were studied. Women who had at least three unexplained spontaneous abortions before 20 weeks of gestation were included in the patient group. The PCR-RFLP method was used to genotype the subjects.
  
  
  RESULTS
  The frequencies of A1A1, A1A2, A2A2 genotypes were 0.34, 0.52, 0.14, respectively, in the patient group and 0.32, 0.47, 0.21, respectively, in the control group. The allele frequencies were 0.595 and 0.405 for A1 and A2, in the patient group and 0.555 and 0.445 for A1 and A2, respectively, in the control group. The data between the two groups were analyzed by χ(2) test. Our results showed that there are no significant differences in genotype (P = 0.3883) or in allele frequencies (P = 0.3800) between the patient and the control group.
  
  
  CONCLUSIONS
  The T/C promoter polymorphism of the CYP17 gene is not associated with the risk for recurrent spontaneous abortions in our Caucasian population.
authors.affiliation: Department of Genetics and Biotechnology, Faculty of Biology, University of Athens, Athens, Greece.
authors.forename: Iakovos
authors.initials: I
authors.lastname: Litridis
authors.forename: Neoptolemos
authors.initials: N
authors.lastname: Kapnoulas
authors.forename: Theona
authors.initials: T
authors.lastname: Natisvili
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Agiannitopoulos
authors.forename: Ourania
authors.initials: O
authors.lastname: Peraki
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Ntostis
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Pantos
authors.forename: Klea
authors.initials: K
authors.lastname: Lamnissou
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006115:Greece; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011401:Promoter Regions, Genetic; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D013254:Steroid 17-alpha-Hydroxylase