Association of NFKB1 -94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris.
Τίτλος | Association of NFKB1 -94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | Chatzikyriakidou, A., Kyriakou A., Meltzanidou P., Lambropoulos A., & Patsatsi A. |
Journal | Exp Dermatol |
Volume | 28 |
Issue | 8 |
Pagination | 972-975 |
Date Published | 2019 08 |
ISSN | 1600-0625 |
Λέξεις κλειδιά | Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Female, Humans, Interleukin-1 Receptor-Associated Kinases, Male, Middle Aged, NF-kappa B p50 Subunit, NF-KappaB Inhibitor alpha, Pemphigus, Polymorphism, Genetic, Young Adult |
Abstract | 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. |
DOI | 10.1111/exd.13957 |
Alternate Journal | Exp Dermatol |
PubMed ID | 31077459 |