Dataset Information

Immunogenetic Prediction of VDR Gene SNPs: Lack of Association with Susceptibility to Type 1 Diabetes in Jordanian Patients.

ABSTRACT:

Purpose

The interaction of Vitamin D and its receptor plays a crucial role in immune modulation. Therefore, the relationship between the pathogenesis of type 1 diabetes and the genetic variants of Vitamin D receptor, which is involved in the activity of Vitamin D, was studied extensively in different populations. The association of Vitamin D receptor gene polymorphisms with predisposition to type 1 diabetes revealed controversial and inconclusive results. The aim of this study was to examine the association of four Vitamin D receptor polymorphisms with type 1 diabetes in Jordanian patients.

Patients and methods

Analysis of the single nucleotide polymorphisms FokI (rs2228570), ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410) in 100 Jordanian volunteers (50 control and 50 Type 1 diabetes patients) was performed using the highly specific New Generation Sequencing technology.

Results

The distribution of allele, genotype as well as haplotype frequencies exhibited no significant (P > 0.05) differences between type 1 diabetes patients and controls. Furthermore, no differences (P > 0.05) in the frequency of the genotypes of the Vitamin D receptor genetic variants were found in relation to the age of disease onset.

Conclusion

These findings suggest these four single nucleotide polymorphisms of the Vitamin D receptor gene seem not to be associated with type 1 diabetes predisposition in Jordanian patients. Further wide genome studies are recommended to detect other genetic variant associations with type 1 diabetes among Jordanians.

SUBMITTER: Khdair SI

PROVIDER: S-EPMC8464324 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectiveTo investigate the genotypic and allelic association of Src homology 2 B adapter protein 1 (SH2B1) gene polymorphisms with type 2 diabetes mellitus (T2DM) in Jordanian patients.Patients and methodsThree hundred patients were screened, but only 200 adult Jordanian patients diagnosed with T2DM (53.5% male and 46.5% female) have participated in this study. Blood samples were collected from both patients and healthy individuals for DNA extraction according to well-established procedures. Exon 1 and exon 9 of the SH2B1 gene were sequenced using an efficient and sensitive DNA sequencing method in order to identify specific single nucleotide polymorphisms (SNPs) in the SH2B1 gene associated with T2DM. Genetic and haplotype correlation analysis was performed for the chosen SNPs to detect any association if existent. In addition, SNPStats Web Tool and Hardy-Weinberg equilibrium (HWE) analyses for the genotype distribution were used. The significance was determined according to the P-value, and the level of significance taken as P < 0.05. The normality of the data distribution was statically analysed by the Shapiro-Wilk test with a P-value >0.05. Also, the patient's characteristics and clinical data about all participants were mentioned.ResultsTwo novel variations were present in the SH2B1 gene in Jordanian patients with T2DM: c.827C>G and c.2026G>A, and previously reported five SNPs: rs146946750, rs565131715, rs370302573, rs143212778, rs200470848. Our results showed a strong genetic association of rs565131715 SNP polymorphism within the SH2B1 gene in T2DM patients (χ 2 test, P < 0.001). Additionally, rs143212778 SNP presented a genetic correlation with T2DM patients (χ 2 test, P = 0.035) as compared to control individuals. GTACG haplotype of SH2B1 has a highly significant association with responders (P< 0.0001).ConclusionOur findings indicated a strong association between the rs565131715 polymorphism and the risk of T2DM among the Jordanian population. Moreover, our data showed that the rs143212778 polymorphism significantly elevated the danger of T2DM among this population. This study reveals the first data regarding the SH2B1 gene polymorphisms in Jordanian patients of Arab descent with diabetes.