Genotyping of rs1127354 and rs7270101 SNPs in Multiple Sclerosis Patients: Correlation with <i>ITPA</i> Gene Expression
| Author | Zeinab Shirvani-Farsani | en |
| Author | Saeed Fardi | en |
| Author | Mohammad Ali Sahraian | en |
| Author | Mehrdad Behmanesh | en |
| Orcid | Zeinab Shirvani-Farsani [0000-0003-2071-1208] | en |
| Orcid | Mehrdad Behmanesh [0000-0002-3901-304X] | en |
| Issued Date | 2024-06-30 | en |
| Abstract | Background: The ITPA gene plays a vital role in maintaining cellular homeostasis by regulating the levels of inosine triphosphate (ITP) and diphosphate (IDP) within cells. Dysregulation of ITPA can lead to an accumulation of ITP and IDP, which disrupts immune cell functions. Objective: This study aims to investigate, for the first time, the relationship between two specific genetic variations (94C- > A (rs1127354) and IVS2+21A → C (rs7270101) SNPs) and the expression of the ITPA gene in multiple sclerosis (MS) patients. Methods: The study included 112 MS patients and 109 healthy controls, with 32 patients and 30 controls randomly selected for genotyping. The expression of two ITPA transcripts in the peripheral blood mononuclear cells of all participants was measured using real-time PCR. Results: The study found no significant differences in the expression levels of transcript 1 and transcript 2 between MS patients and controls. Additionally, there were no significant differences in the genotypic and allele frequencies of the ITPA rs1127354 and rs7270101 SNPs in MS patients. Conclusions: These findings may contribute to the development of targeted therapies and personalized treatments for individuals with MS. Understanding the pathogenic potential and frequency distribution of these variants across diverse populations is crucial for elucidating their role in disease susceptibility and advancing personalized medicine approaches for multiple sclerosis and other autoimmune disorders. | en |
| DOI | https://doi.org/10.5812/jjcmb-145160 | en |
| Keyword | <i>ITPA</i> | en |
| Keyword | SNP Genotyping | en |
| Keyword | Multiple Sclerosis | en |
| Keyword | IVS2 + 21A→C | en |
| Keyword | 94C- > A | en |
| Publisher | Brieflands | en |
| Title | Genotyping of rs1127354 and rs7270101 SNPs in Multiple Sclerosis Patients: Correlation with <i>ITPA</i> Gene Expression | en |
| Type | Research Article | en |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- jjcmb-15-2-145160-publish-pdf.pdf
- Size:
- 394.3 KB
- Format:
- Adobe Portable Document Format
- Description:
- Article/s PDF