title: Genetic variation in the HSD3B1 gene and recurrent spontaneous abortions.
abstract: OBJECTIVE
  HSD3B1 gene encodes the 3β-hydroxysteroid deydrogenases/isomerase (3β-HSD) enzyme, which plays a crucial role in the biosynthesis of all hormonal steroids. The aim of this study was to examine the potential impact of a T → C substitution at codon Leu(338) of HSD3B1 gene on pregnancy outcome.
  
  
  METHODS
  In this prospective case-control study, 162 patients and 139 healthy controls were investigated for the possible association between the HSD3B1 T/C polymorphism and the risk of recurrent spontaneous abortions (RSA). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used in order to genotype the subjects.
  
  
  RESULTS
  The frequencies of TT, TC, and CC genotypes were 0.20, 0.51, and 0.29, respectively, in the patient group and 0.20, 0.45, and 0.35, respectively, in the control group. The allele frequencies were 0.456 and 0.428 for T allele for the patient group and control group, respectively and 0.543 and 0.572 for C allele for the patient and control group, respectively. The data between the two groups were analyzed by chi-square test or Fisher's exact test. Our results showed that there are no significant differences in genotype (P = 0.56) or in allele frequencies (P = 0.51) between the patient and the control group.
  
  
  CONCLUSIONS
  The HSD3B1 T/C polymorphism cannot be used as genetic marker for the risk for RSA in our Caucasian population.
authors.affiliation: Department of Genetics and Biotechnology, University of Athens, Athens, Greece.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Ntostis
authors.forename: Ourania
authors.initials: O
authors.lastname: Peraki
authors.forename: Alexandra
authors.initials: A
authors.lastname: Boulgari
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Agiannitopoulos
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Pantos
authors.forename: Klea
authors.initials: K
authors.lastname: Lamnissou
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000026:Abortion, Habitual / Q000208:ethnology / Q000235:genetics*; D000022:Abortion, Spontaneous / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000502:physiology; D005828:Genetics, Population; D006801:Humans; D008875:Middle Aged; D009097:Multienzyme Complexes / Q000235:genetics* / Q000502:physiology; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011247:Pregnancy; D011375:Progesterone Reductase / Q000235:genetics* / Q000502:physiology; D012008:Recurrence; D013251:Steroid Isomerases / Q000235:genetics* / Q000502:physiology; D044465:White People; D055815:Young Adult
chemical_list: C021425:3 beta-hydroxysteroid oxidoreductase-delta(5) 3-ketosteroid isomerase; D009097:Multienzyme Complexes; D015096:3-Hydroxysteroid Dehydrogenases; D011375:Progesterone Reductase; D013251:Steroid Isomerases