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

Author:

Ciulei George1,Orășan Olga Hilda1,Cozma Angela1,Negrean Vasile1,Para Ioana1,Ciumărnean Lorena1,Leach Nicoleta1,Lucaciu Roxana Liana2ORCID,Hangan Adriana Corina3ORCID,Procopciuc Lucia Maria4

Affiliation:

1. 4th Department of Internal Medicine, Faculty of Medicine, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania

2. Department of Pharmaceutical Biochemistry and Clinical Laboratory, Faculty of Pharmacy, “Iuliu-Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania

3. Department of Inorganic Chemistry, Faculty of Pharmacy, “Iuliu-Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania

4. Department of Medical Biochemistry, Faculty of Medicine, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania

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.

Funder

“Iuliu Hatieganu University of Medicine And Pharmacy”, 2nd Dept. of Molecular Sciences, Cluj-Napoca, Romania

Publisher

MDPI AG

Reference33 articles.

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2. (2024, March 11). National Report on the Health Status of the Population–2020–National Institute of Public Health, Available online: https://insp.gov.ro/2021/12/29/raportul-national-al-starii-de-sanatate-a-populatiei-2020/.

3. Serum vitamin D concentration, vitamin D-related polymorphisms, and colorectal cancer risk;Li;Int. J. Cancer,2023

4. Serum 25-Hydroxyvitamin D Levels and Risk of Colorectal Cancer: An Age-Stratified Analysis;Kim;Gastroenterology,2023

5. Vitamin D and Colorectal Cancer: Current Perspectives and Future Directions;Na;J. Cancer Prev.,2022

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