# Genetic Variants in Vitamin-D Metabolism Genes (rs1155563, rs12785878 and rs10500804) among Females with Type-2 Diabetes Mellitus in Saudi Arabia

**Authors:** Shatha Alharazy

PMC · DOI: 10.12669/pjms.40.8.9318 · Pakistan Journal of Medical Sciences · 2024-09-01

## TL;DR

This study examined the link between vitamin-D metabolism gene variants and type-2 diabetes in Saudi women but found no significant associations.

## Contribution

The study is the first to investigate specific vitamin-D gene SNPs in Saudi females with type-2 diabetes.

## Key findings

- No significant differences in vitamin-D levels or glycaemic parameters were found between genotypes.
- The SNPs rs1155563, rs12785878, and rs10500804 showed no association with type-2 diabetes markers.
- Minor allele frequencies were reported for the studied SNPs in the Saudi population.

## Abstract

Hypovitaminosis D has shown to be linked with T2DM development and control in numerous studies. The association of SNPs in genes related to VitD metabolism with T2DM has not been sufficiently studied. Consequently, our aim in the present study was to explore the association between genetic variants in genes connected with VitD, mainly a SNP in GC (rs1155563), a SNP in DHCR7 (rs12785878) and a SNP in CYP2R1 (rs10500804) with glycaemic parameters in females with T2DM in Saudi Arabia.

The cross-sectional study included 149 females (age 38-52 years) with T2DM from Jeddah, Saudi Arabia (September 2022-March 2023). Blood was extracted from the participants for biochemical tests including measuring VitD [25(OH)D] concentration, parameters of glycaemia (HbA1c, insulin, fasting glucose and insulin sensitivity indices including HOMA2-IR and HOMA2-%β), and for genomic DNA isolation. Sanger DNA sequencing was used to screen for VitD genetic polymorphisms (rs1155563, rs12785878 and rs10500804).

Minor allele frequency for rs1155563C, rs12785878T and rs10500804G was 0.21, 0.23 and 0.37, respectively. Levels of 25(OH)D and glycaemic parameters as well did not show any significant difference between the genotypes of each SNP.

This study showed lack of association of rs1155563 in GC, rs12785878 in DHCR7 and rs10500804 in CYP2R1 with VitD level primarily and with glycaemic parameters secondarily. Additional research is required to explore further other VitD genetic polymorphisms influencing T2DM which might lead consequently to genetically-based personalized management for T2DM.

## Linked entities

- **Genes:** GC (GC vitamin D binding protein) [NCBI Gene 2638], DHCR7 (7-dehydrocholesterol reductase) [NCBI Gene 1717], CYP2R1 (cytochrome P450 family 2 subfamily R member 1) [NCBI Gene 120227]
- **Diseases:** Type-2 Diabetes Mellitus (MONDO:0005148), T2DM (MONDO:0005148)

## Full-text entities

- **Genes:** DHCR7 (7-dehydrocholesterol reductase) [NCBI Gene 1717] {aka SLOS}, CYP2R1 (cytochrome P450 family 2 subfamily R member 1) [NCBI Gene 120227], INS (insulin) [NCBI Gene 3630] {aka IDDM, IDDM1, IDDM2, ILPR, IRDN, MODY10}
- **Diseases:** Type-2 Diabetes Mellitus (MESH:D003924), Hypovitaminosis D (MESH:D014808)
- **Chemicals:** 25(OH)D (-), VitD (MESH:D014807), glucose (MESH:D005947)
- **Mutations:** rs10500804, rs12785878, rs1155563

## Full text

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## Figures

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## References

14 references — full list in the complete paper: https://tomesphere.com/paper/PMC11395384/full.md

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Source: https://tomesphere.com/paper/PMC11395384