Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid

• DOI: 10.1007/s00403-018-1842-8
• Publication Date: 2018-06-09T01:58:07Z
• Authors: Mariola Rychlik-Sych; Małgorzata Barańska; Michał Dudarewicz; Jadwiga Skrętkowicz; Agnieszka Żebrowska; Anna Woźniacka; Jacek Owczarek; Daria Orszulak-Mi...; Elżbieta Waszczyk...
• Keywords: Adult; Aged, 80 and over; Male; Original Paper; 0303 health sciences; ATP Binding Cassette Transporter, Subfamily B; Incidence; Middle Aged; 3. Good health; Young Adult; 03 medical and health sciences; Gene Frequency; Haplotypes; Case-Control Studies; Pemphigoid, Bullous; Humans; Female; Genetic Predisposition to Disease; ATP Binding Cassette Transporter, Subfamily B, Member 1; Alleles; Polymorphism, Restriction Fragment Length; Aged

Bullous pemphigoid (BP) constitutes the most prevalent disease in group of bullous dermatoses with autoimmune background. Some authors suggest that certain cytokines (IL-2, IFN-γ) may be transported by P-glycoprotein (P-gp), product ABCB1 gene. polymorphism might affect not only effectiveness treatment drugs are P-gp substrates but also contribute to development diseases, including BP. In present work, we resolved conduct a haplotype analysis patients BP and answer question whether any haplotypes able incidence this entity. The study involved 71 100 healthy volunteers. Determination polymorphisms 1236C > T 3435C was carried out PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) method. 2677G T/A analyzed allele-specific PCR It observed 1236T-2677G-3435T occurred statistically significantly lower frequency than controls (1.4 vs. 10.0%). Carriers were shown have had low relative risk for (OR = 0.13, p 0.003). Haplotype conducted demonstrated protect against