Association of BLK and BANK1 gene polymorphisms with systemic lupus erythematous in Egyptian patients … Original Research Article … |
The Egyptian Journal of Immunology E-ISSN (2090-2506) Volume 31 (4), October 2024 Pages: 36–45. www.Ejimmunology.org https://doi.org/10.55133/eji.310404 |
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| Rehab A. Mohammed1,6, Sara M. Elhadad1, Amany M. Tawfeik2,5, Omnia A. El-dydamoni2, Asmaa A. Attia1, Nora Seliem3, Iman A. Kassem4,7 and Haneya A. A. Anani2,5 |
| 1Department of Internal Medicine, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt.
2Department of Medical Microbiology & Immunology, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt. 3Department of Medical Biochemistry, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt. 4Department of Clinical Pathology, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt. 5Department of Microbiology, Faculty of Medicine, Badr University in Cairo, Badr City, Egypt. 6Department of Internal Medicine, Ibn Sina National College, Jeddah, KSA. 7Department of Clinical Pathology, Dr Erfan and Bagedo General Hospital, Jeddah, KSA. |
Corresponding author: Rehab A. Mohammed, Department of Internal Medicine, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt. Email: dr.rehabomran@yahoo.com. |
Abstract
This study examined the genotype, allelic frequencies (polymorphisms) in a sample of Egyptian patients and examined the relationship between disease activity in systemic lupus erythematosus (SLE) and the B lymphoid tyrosine kinase (BLK) and B-cell scaffold protein with ankyrin repeats 1 (BANK1) gene. This case control study involved 70 SLE patients and 40 subjects matched for age and sex as a control group. Clinical data were gathered from each participant, including SLE-related clinical activity indicators. Utilizing the restriction fragment length polymorphism (RFLP)-polymerase chain reaction (PCR), the single nucleotide polymorphisms (SNPs) BLK rs13277113G/A and BANK1 rs10516487G/A were assessed. The most prevalent genotype among the study participants was BLK rs13277113; G/G (57.1%), and BANK rs10516487; GG/ genotype (74.3%). There were no substantial variations in the incidence of genotype and allelic polymorphism between patients and controls (p>0.05). In the studied SLE patients, however, there was no significant association between both alleles (BANK rs10516487 gene alleles, G/G and G/A & BLK rs13277113, G/A, G/G &A/A) and the SLE disease activity score. While there was a significant association between BLK rs13277113 genotype alleles and age. In conclusion, BLK rs13277113 G/A and BANK1 rs10516487 G/A alleles showed no difference between SLE Egyptian patients compared to controls with no link between both genes and SLE disease activity.
Keywords:
Single nucleotide polymorphisms, BLK, BANK1, Systemic lupus erythematous, RFLP-PCR.
Date received: 23 December 2023; accepted: 08 August 2024
PMID:
39417739
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