Polymorphism of genes affecting remodeling of connective tissue, in patients with infertility

Abstract

The aim of the study was to evaluate the association of gene polymorphism of matrix metalloproteinase 2 (MMP2), MMP3, MMP9, urokinase plasminogen activator (PLAU) and transforming growth factor β1 (TGF-β1) with the occurrence of infertility.

Material and methods. 84 women planning pregnancy were examined. Of these, 47 did not become pregnant in six months (the first group), 37 had a pregnancy, and lasted more than 22 weeks (second group). The single-nucleotide polymorphisms (SNPs) of rs2285052 and rs243865 of the MMP2 gene, rs3025058 of the MMP3 gene, rs17576 and rs3918242 of the MMP9 gene, rs4065 and rs2227564 of the PLAU gene, rs1800469 of the TGF gene were analyzed in all patients. Statistical analysis of genetic associations was carried out using the SNPStats program.

Results. Patients with the A allele rs2285052 and the T allele rs243865 of the MMP2 gene had an increased risk of infertility (for rs2285052 in the group of patients without pregnancy, СС 27.7%, AС 51.1%, AA 21.3%; in the pregnant group СС 54%, AС 40.5%, AA 5.4%; for rs 243865 in the group of patients without pregnancy СС 57.5%, CT 40.4%, TT 2.1%; in the pregnant group СС 81.1%, CT 18, 9%, TT 0%). With the log-additive variant of inheritance, the OR (95% CI) was 0.38 (0.19–0.77) (p = 0.0043) for rs2285052 and 0.32 (0.12–0.84) (p = 0.015) for rs243865.

No statistically significant differences were found between the main group and the comparison group in allele frequencies rs3025058 of the MMP3 gene, rs17576 and rs3918242 of the MMP9 gene, rs4065 and rs2227564 of the PLAU gene, rs1800469 of the TGF-β1 gene.

Conclusions. In the studied sample of patients SNPs rs2285052 and rs243865 of the MMP2 gene were associated with a risk of infertility: the presence of the A allele rs2285052 and the T allele rs243865 of the MMP2 gene were associated with an increased risk of infertility.

Keywords

infertility / single nucleotide allelic polymorphism / matrix metalloproteinase / urokinase plasminogen activator / transforming growth factor β1

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