Vitamin D receptor gene polymorphism in women with genital endometriosis, type 1 diabetes mellitus, and in the population

Alexandra S. Denisova, T. E. Ivaschenko, Т. Э. Иващенко, Maria I. Yarmolinskaya, Аnnа A. Shagina, Elena V. Misharina
In: Journal of obstetrics and women's diseases · 2021 · vol. 70(4) , pp. 25–33 · doi:10.17816/jowd70796 · W3203552795
article OA: bronze CC0 ⤵ 1 in-corpus citation
🔓 Open OA copy View on OpenAlex View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-06 ⓘ

The vitamin D receptor gene's BsmI G allele and G/G genotype were more frequent in women with genital endometriosis, while the TaqI t allele and T/t or t/t genotypes were more common in type 1 diabetes mellitus patients.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-06 ⓘ

This case-control study examined whether vitamin D receptor (VDR) gene polymorphisms are associated with the risk of genital endometriosis and type 1 diabetes mellitus by genotyping rs1544410 (BsmI), rs731236 (TaqI), and rs2228570 (FokI) using PCR-RFLP in 129 women with confirmed stage I–IV genital endometriosis, 71 with type 1 diabetes, and 82 population controls. The rs1544410 G allele and G/G genotype were more frequent in women with genital endometriosis than in controls, with an odds ratio of about 1.9, while the A/A plus G/A genotype combination was more common in women with type 1 diabetes and in controls than in those with genital endometriosis. The rs731236 t allele and T/t plus t/t genotype combination were increased in type 1 diabetes compared with genital endometriosis. The paper does not explicitly state limitations in the provided text, but it uses a relatively small sample and focuses on selected VDR SNPs. This paper is centrally about endometriosis — it tests VDR gene polymorphisms as potential genetic risk markers for genital endometriosis.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

Abstract

AIM: The aim of this study was to analyze the association between the vitamin D receptor gene polymorphism and the risk of developing genital endometriosis and type 1 diabetes mellitus. MATERIALS AND METHODS: The frequency of allelic variants of the VDR gene was studied by PCR-RFLP analysis in 282 women, including 129 patients with genital endometriosis (stages IIV), 71 patients with type 1 diabetes mellitus, and 82 women of the control group represented by the population sample. RESULTS: It was found that the frequency of the allele G polymorphic variant of rs1544410 (BsmI) in the VDR gene was significantly higher in the group of patients with genital endometriosis compared to the population sample (p = 0.048). Significant differences for the G / G genotype in patients with genital endometriosis relative to the control group (p 0.05) and the group of patients with type 1 diabetes mellitus (p 0.05) were revealed. According to the odds ratio, the risk of developing genital endometriosis was 1.9 times higher for this genotype (OR = 1.93 CI = 1.0823.450; OR = 1.892 CI = 1.0223.430). The combination of the A / A and G / A genotypes was significantly more common in patients with type 1 diabetes mellitus (p = 0.040) and in the population (p = 0.025), when compared to the patients with genital endometriosis. A significant increase in the t allele of the rs731236 polymorphism (TaqI) of the VDR gene was found in the group of patients with type 1 diabetes mellitus (p 0.05). The combination of the T / t and t / t genotypes of the rs731236 polymorphism (TaqI) of the VDR gene in patients with type 1 diabetes mellitus were significantly more common than in the group of patients with genital endometriosis (p = 0.017). CONCLUSIONS: The data obtained may be important for risk assessment of genital endometriosis and type 1 diabetes mellitus development and for developing new strategies for the prevention and treatment of these diseases.

My notes (saved in your browser only)

Condition tags

endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (23)

Cited by (1)

Source provenance

openalex
last seen: 2026-06-10T17:14:06.276822+00:00
License: CC0 · commercial use OK