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Association of NFKB 1 ‐94 ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris
Author(s) -
Chatzikyriakidou Anthoula,
Kyriakou Aikaterini,
Meltzanidou Parthena,
Lambropoulos Alexandros,
Patsatsi Aikaterini
Publication year - 2019
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.13957
Subject(s) - pemphigus vulgaris , immunology , pathogenesis , medicine , pemphigus , autoantibody , antibody
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 IRAK 1 (rs3027898), NFKBIA (rs696) and NFKB 1 (‐94 ATTG 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 NFKB 1 gene ( P = 0.00005). Additional dedicated studies in larger groups of patients of various ethnicities are needed to replicate and confirm the preliminary findings.