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J Matern Fetal Neonatal Med. 2012 Apr;25(4):408-10. doi: 10.3109/14767058.2011.582199. Epub 2011 Jun 1.

Genetic variation in the HSD3B1 gene and recurrent spontaneous abortions.

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  • 1Department of Genetics and Biotechnology, University of Athens, Athens, Greece.



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.


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.


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.


The HSD3B1 T/C polymorphism cannot be used as genetic marker for the risk for RSA in our Caucasian population.

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