Nuclear factor kappa B 1 A G single-nucleotide polymorphism in Egyptian patients with Behcet's syndrome, case-control study

• Published in: Egyptian Journal of Medical Human Genetics 2024-10, Vol.25 (1), p.112-8
• Main Authors: Saad, Moustafa Ali, El Gendy, Hala Ibrahem, Laymouna, Ahmed Hatem, Shaker, Olfat, Behiry, Mervat Essam
• Format: Article
• Language: English
• Subjects: Analysis; Arthralgia; Arthritis; Behcet; Behcet's syndrome; Cancer; Cytokines; Disease; Ethylenediaminetetraacetic acid; Females; Gender; Gene polymorphism; Genetic aspects; Genotype & phenotype; Immune response; Immunity (Disease); Innate immunity; Males; Medical research; Medicine, Experimental; NF-κB protein; NFKB; Pathogenesis; Patients; Polymorphism; Regression analysis; rs4648068; Single nucleotide polymorphisms; Single-nucleotide polymorphism; SNP; Statistical analysis; Transcription factors; Vasculitis
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1186/s43042-024-00587-2

Background Behcet's syndrome (BS) is a variable-vessel vasculitis characterized by hyperactive innate immunity. The nuclear factor kappa B (NFKB) pathway is involved in the regulation of inflammatory responses including innate and adaptive immune responses. BS could be associated with NFKB hyperactivation. We aimed to study the association between the NFKB1 A > G (rs4648068) single-nucleotide polymorphism (SNP) and BS in Egyptian patients, in comparison to healthy controls, and to correlate the presence of rs4648068 SNP with the different activity domains of the disease. After ethical committee approval (Faculty of Medicine, Cairo University, Egypt, code MD-228-2022), the International Study Group Criteria for Behçet's Disease (ISG) criteria was used to recruit 60 BS patients, and the activity of the disease was assessed using Behcet's Disease Current Activity Form (BDCAF) and the Behcet Syndrome Activity Score (BSAS). Another 60 matched controls were recruited. DNA extraction was done followed by PCR amplification to detect the target SNP. Results The GG genotype was significantly higher in BS versus controls (21.7% and 5%, respectively, p value = 0.015). Also, the G allele was significantly higher in BS versus controls (43.3% and 30%, respectively, p value = 0.033). Of the whole activity domains, only arthralgia was found to be significantly correlated with rs4648068 SNP. Conclusion NFKB1 rs4648068 A > G SNP increases the risk of developing BS. Among patients with BS, the GG genotype is protective against developing arthralgia. There is no statistically significant relation between rs4648068 SNP and either other activity domains of BS or the different activity scores of the disease.