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

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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.


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About the authors

Tat’yana E. Filipenkova

Center of Family Planning and Reproduction of the Moscow Department of Health

Author for correspondence.
Email: arvensa@list.ru
ORCID iD: 0000-0003-1443-8671

Russian Federation, Moscow

Center of Family Planning and Reproduction of the Moscow Department of Health

Liya N. Shcherbakova

Center of Family Planning and Reproduction of the Moscow Department of Health; Lomonosov Moscow State University

Email: liya.fbm@gmail.com
ORCID iD: 0000-0003-2681-4777

Russian Federation, Moscow

MD, Ph.D.

Aleksandr V. Balatskiy

Lomonosov Moscow State University; National Medical Research Center of Cardiology

Email: balatsky@fbm.msu.ru
ORCID iD: 0000-0002-6694-2231

Russian Federation, Moscow

MD, Ph.D.

Larisa M. Samokhodskaya

Lomonosov Moscow State University

Email: slm61@mail.ru
ORCID iD: 0000-0001-6734-3989

Russian Federation, Moscow

MD, Ph.D.

Mariya V. Alekseyenkova

Center of Family Planning and Reproduction of the Moscow Department of Health; Lomonosov Moscow State University

Email: m.alexeenkova@gmail.com
ORCID iD: 0000-0003-1910-6940

Russian Federation, Moscow

MD, Ph.D.

Ol’ga B. Panina

Center of Family Planning and Reproduction of the Moscow Department of Health; Lomonosov Moscow State University

Email: olgapanina@yandex.ru
ORCID iD: 0000-0003-1397-6208

Russian Federation, Moscow

MD, Ph.D., Professor

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