Association of COL1A1, ESR1, and VDR gene polymorphisms with the risk of pelvic floor dysfunction in postpartum women

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Abstract

Objective: To investigate the influence of collagen type 1 gene polymorphisms, estrogen receptors, and vitamin D receptors on early development of pelvic floor dysfunction in postpartum women.

Materials and methods: This prospective cohort study enrolled 120 women who delivered naturally. The patients were divided into two groups. Group 1 (study group) consisted of 67 women who developed pelvic floor dysfunction, such as pelvic organ prolapse and urinary incontinence, six months postpartum. Group 2 (control group) included 53 women who did not develop pelvic floor dysfunction within six months postpartum. Molecular genetic typing and determination of COL1A1 gene polymorphisms -1997 C>A and 1546 G>T, ESR1 gene -397 T>C and -351 G>A, and VDR gene 283 A>G and 2 A>G were conducted for all women.

Results: Among patients who developed pelvic floor dysfunction after delivery, carriage of the minor allele G of the ESR1:A-351G polymorphic marker was more common than that in healthy women, where the predominant allele was ESR1:-351 A. The presence of the variant allele -397 C of the ESR1 gene in the homozygous or heterozygous state of the genotype is associated with an increased risk of developing this pathology.

Conclusion: The polymorphism of the ESR1 gene at loci -351 A>G and -397 T>C is associated with the development of pelvic organ prolapse and urinary incontinence 6 months after natural childbirth. No association was found between COL1A1 and VDR gene polymorphisms and the early development of pelvic floor dysfunction after childbirth.

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About the authors

Anna A. Mikhelson

Urals Scientific Research Institute for Maternal and Child Care, Ministry of Health of the Russian Federation

Author for correspondence.
Email: ann_tolmik@mail.ru
ORCID iD: 0000-0003-1709-6187

Dr. Med. Sci., Associate Professor, Head of the Scientific Department for the Preservation of Reproductive Function, Head of the Gynecological Department

Russian Federation, Yekaterinburg

Ksenia D. Lukianova

Urals Scientific Research Institute for Maternal and Child Care, Ministry of Health of the Russian Federation

Email: k.d.lukianova@mail.ru

Obstetrician-Gynecologist

Russian Federation, Yekaterinburg

Maria V. Lazukina

Urals Scientific Research Institute for Maternal and Child Care, Ministry of Health of the Russian Federation

Email: masha_balueva@mail.ru
ORCID iD: 0000-0002-0525-0856

PhD, Researcher, Obstetrician-Gynecologist

Russian Federation, Yekaterinburg

Anastasia L. Varlamova

Urals Scientific Research Institute for Maternal and Child Care, Ministry of Health of the Russian Federation

Email: ann_tolmik@mail.ru
ORCID iD: 0009-0008-7703-4248

PhD Student, Obstetrician-Gynecologist

Russian Federation, Yekaterinburg

Tatyana B. Tretyakova

Urals Scientific Research Institute for Maternal and Child Care, Ministry of Health of the Russian Federation

Email: ann_tolmik@mail.ru
ORCID iD: 0000-0002-5715-7514

PhD, Senior Researcher at the Genetic Research Group, Biochemical Research Methods Division, Laboratory Geneticist

Russian Federation, Yekaterinburg

Anatoly N. Varaksin

Institute of Industrial Ecology, Ural Branch of the Russian Academy of Sciences

Email: varaksin@ecko.uran.ru
ORCID iD: 0000-0003-2689-3006

Dr. Sci. (Physics and Mathematics), Professor, Chief Researcher at the Laboratory of Mathematical Modeling in Ecology and Medicine

Russian Federation, Yekaterinburg

Ekaterina D. Konstantinova

Institute of Industrial Ecology, Ural Branch of the Russian Academy of Sciences

Email: ann_tolmik@mail.ru
ORCID iD: 0000-0002-2260-744X

PhD, Senior Researcher, Head of the Laboratory of Mathematical Modeling in Ecology and Medicine

Russian Federation, Yekaterinburg

Tatyana A. Maslakova

Institute of Industrial Ecology, Ural Branch of the Russian Academy of Sciences

Email: ann_tolmik@mail.ru
ORCID iD: 0000-0001-6642-9027

PhD, Researcher at the Laboratory of Mathematical Modeling in Ecology and Medicine, Institute of Industrial Ecology

Russian Federation, Yekaterinburg

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Supplementary files

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2. Fig. 1. Odds ratios for the investigated polymorphic markers of COL1A1, ESR1, VDR and DTD genes after delivery (multiplicative model)

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3. Fig. 2. Odds ratios for the investigated polymorphic markers of COL1A1, ESR1, VDR and DTD genes after delivery (recessive model)

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4. Fig. 3. Odds ratio for the investigated polymorphic markers of COL1A1, ESR1, and VDR genes in women of the study groups (dominant model)

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