# Role of Vitamin D Receptor (BsmI-VDR) and Insulin Receptor (NsiI-A/G) Gene Polymorphisms in Colorectal Adenoma Susceptibility

**Authors:** George Ciulei, Olga Hilda Orășan, Angela Cozma, Vasile Negrean, Ioana Para, Lorena Ciumărnean, Nicoleta Leach, Roxana Liana Lucaciu, Adriana Corina Hangan, Lucia Maria Procopciuc

PMC · DOI: 10.3390/ijms25168965 · 2024-08-17

## TL;DR

This study explores how genetic variations in vitamin D and insulin receptors may influence the risk of developing colorectal adenomas in a Romanian population.

## Contribution

The study identifies specific gene polymorphisms linked to earlier diagnosis of colorectal adenomas in a case-control setting.

## Key findings

- The b/b genotype of rs1544410 is associated with increased risk of colorectal adenoma.
- CRA patients with b/b or G/G genotypes were diagnosed at a younger age.
- The b allele of rs1544410 is a significant risk factor for colorectal adenoma.

## Abstract

Vitamin D deficiency and type 2 diabetes mellitus are risk factors for colorectal cancer, suggesting a role for vitamin D receptor (VDR) and insulin receptor (INSR) gene polymorphisms. We investigated the prevalence of the VDR-BsmI (rs1544410) and NsiI A/G-INSR (rs2059806) polymorphisms and their associations with colorectal adenoma (CRA) in a Romanian population. A case–control study was conducted with 110 participants (67 with CRA and 43 controls) who underwent colonoscopy. Polymerase chain reaction–restriction fragment length polymorphism analysis was used to determine the genotype and allele frequencies of the two polymorphisms. Regarding rs1544410 and CRA patients, genotype distribution was 35% B/B, 47% B/b, and 19% b/b. In the controls, the distribution was 21% B/B, 45% B/b, and 34% b/b. For rs2059806, 12% of CRA patients had A/A, 30% A/G, and 58% G/G, while 8% of the controls had A/A, 40% A/G, and 52% G/G. The recessive model showed an odds ratio of 2.84 (95% CI: 1.04–7.72, p = 0.033) for the b/b genotype. CRA patients with b/b or G/G genotypes were diagnosed at a younger age. The b allele of the rs1544410 was a risk factor for CRA. Patients with the b/b and G/G genotypes were diagnosed earlier.

## Linked entities

- **Diseases:** colorectal adenoma (MONDO:0005484), type 2 diabetes mellitus (MONDO:0005148)

## Full-text entities

- **Genes:** VDR (vitamin D receptor) [NCBI Gene 7421] {aka NR1I1, PPP1R163}, INSR (insulin receptor) [NCBI Gene 3643] {aka CD220, HHF5}
- **Diseases:** type 2 diabetes mellitus (MESH:D003924), Vitamin D deficiency (MESH:D014808), colorectal cancer (MESH:D015179), CRA (MESH:D000236)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** G/G, 40% A/G, A/G, 30% A/G, rs2059806, rs1544410

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11354587/full.md

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Source: https://tomesphere.com/paper/PMC11354587