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 Leu³³⁸ 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.

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

Keywords:

• Recurrent spontaneous abortions
• genetic polymorphism
• risk factor

Acknowledgements

We thank the ‘InterGenetics’ Diagnostic Centre (Athens, Greece) for providing us with a number of DNA samples from patients to serve as positive controls in our study.

Declaration of interest:

This work was supported by a grant from the Special Research Account of the National and Kapodistrian University of Athens. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.