Association of NFKB1 -94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris.
Anthoula ChatzikyriakidouAikaterini KyriakouParthena MeltzanidouAlexandros F LambropoulosAikaterini PatsatsiPublished in: Experimental dermatology (2019)
Pemphigus vulgaris is a rare chronic blistering skin disease resulting from IgG autoantibodies directed against transmembrane desmosomal glycoprotein desmoglein 3 and is the most common form of pemphigus. Since interleukin-1 receptor-associated kinase (IRAK-1)/nuclear factor-kappa B (NF-kappa B) pathway plays an essential role in the pathogenesis of autoimmune diseases, the aim of the present study was to explore the role of polymorphisms in three genes, named IRAK1 (rs3027898), NFKBIA (rs696) and NFKB1 (-94ATTG insertion/deletion variant, - rs28362491), in PV susceptibility. Forty-four unrelated patients with PV (23 males) were enrolled in the study. Additionally, 77 ethnic matching healthy volunteers (45 males) with no personal or family history of chronic autoimmune or infectious diseases were studied. Strong statistical significant difference was observed between PV patients and controls for polymorphism -94 insertion/deletion ATTG in the promoter region of NFKB1 gene (P = 0.00005). Additional dedicated studies in larger groups of patients of various ethnicities are needed to replicate and confirm the preliminary findings.
Keyphrases
- nuclear factor
- end stage renal disease
- ejection fraction
- toll like receptor
- chronic kidney disease
- newly diagnosed
- infectious diseases
- peritoneal dialysis
- systemic lupus erythematosus
- multiple sclerosis
- signaling pathway
- dna methylation
- patient reported outcomes
- gene expression
- immune response
- drug induced
- copy number
- protein kinase
- pi k akt
- genome wide analysis