The role of vitamin D receptor (VDR) gene polymorphisms in the development of idiopathic recurrent miscarriage: A literature review

Идиопатиялық әдеттегі түсік түсірудің дамуындағы D дәрумені рецепторларының (VDR) гендік полиморфизмдерінің рөлі: әдебиетке шолу
Роль полиморфизмов гена рецептора витамина D (VDR) в развитии идиопатического привычного невынашивания беременности: обзор литературы
Turesheva A. Amanzholkyzy А. Saparbaev S. Tyutyunik S.
30 December 2025 Kaz Med Print LLP

Reproductive Medicine (Central Asia)
2025 #2025 Issue 4

Relevance: Recurrent miscarriage (RM) is a serious reproductive health problem affecting 1-5% of women.. In half of the cases, the cause remains unclear, underscoring the importance of studying idiopathic RM (iRM) and identifying its genetic risk factors. Special attention is given to single-nucleotide polymorphisms that affect immune response, inflammation, and coagulation. One of the key candidate genes is VDR, as vitamin D plays an important role in regulating the immune mechanisms of pregnancy, and its polymorphisms (FokI, BsmI, ApaI, and TaqI) may be associated with the development of iRM. The study aimed to review current data on the association of VDR polymorphisms – FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) – with the risk of iRM. Materials and Methods: A literature search was conducted in PubMed, Web of Science, Cochrane Library, Google Scholar, e-Library, and dissertation databases (2015–2025) using relevant keywords. Results: Analysis of published data revealed associations between genetic polymorphisms of hemostasis (FVL, prothrombin G20210A, MTHFR C677T), immune and hormonal regulation (CX3CR1, CTLA4, FOXP3, HLA), and iRM. Several studies demonstrated possible links between VDR variants (BsmI, FokI, ApaI, TaqI) and reproductive disorders, including infertility, endometriosis, and iRM. However, results remain inconsistent across ethnic groups, suggesting that population-specific effects may be at play. Conclusion: The VDR gene plays a crucial role in regulating the immune, endocrine, and reproductive systems. Its polymorphisms may influence implantation, placentation, and maternal immune tolerance, making VDR a promising genetic marker for implantation-related mortality (iRM). Further population-based studies are required to clarify these associations and support the development of personalized diagnostic and therapeutic strategies.

idiopathic recurrent miscarriage , spontaneous abortion , VDR polymorphisms , vitamin D

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West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan
“Al-Zhami” Medical Center, Astana, Kazakhstan
“BIOS” Medical Center, Aktobe, Kazakhstan

West Kazakhstan Marat Ospanov Medical University
“Al-Zhami” Medical Center
“BIOS” Medical Center

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