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• W2797592013 abstract "Skin blisters of pemphigus foliaceus (PF) present concomitant deposition of autoantibodies and components of the complement system (CS), whose gene polymorphisms are associated with susceptibility to different autoimmune diseases. To investigate these in PF, we evaluated 992 single-nucleotide polymorphisms (SNPs) of 44 CS genes, genotyped through microarray hybridization in 229 PF patients and 194 controls. After excluding SNPs with minor allele frequency <1%, out of Hardy-Weinberg equilibrium in controls or in strong linkage disequilibrium (r2 ≥ 0.8), 201 SNPs remained for logistic regression. Polymorphisms of 11 genes were associated with PF. MASP1 encodes a crucial serine protease of the lectin pathway (rs13094773: OR = 0.5, p = 0.0316; rs850309: OR = 0.23, p = 0.03; rs3864098: OR = 1.53, p = 0.0383; rs698104: OR = 1.52, p = 0.0424; rs72549154: OR = 0.55, p = 0.0453). C9 (rs187875: OR = 1.46, p = 0.0189; rs700218: OR = 0.12, p = 0.0471) and C8A (rs11206934: OR = 4.02, p = 0.0323) encode proteins of the membrane attack complex (MAC) and C5AR1 (rs10404456: OR = 1.43, p = 0.0155), a potent anaphylatoxin-receptor. Two encode complement regulators: MAC-blocking CD59 (rs1047581: OR = 0.62, p = 0.0152) and alternative pathway-blocking CFH (rs34388368: OR = 2.57, p = 0.0195). One encodes opsonin: C3 (rs4807895: OR = 2.52, p = 0.0239), whereas four encode receptors for C3 fragments: CR1 (haplotype with rs6656401: OR = 1.37, p = 0.0382), CR2 (rs2182911: OR = 0.23, p = 0.0263), ITGAM (CR3, rs12928810: OR = 0.66, p = 0.0435), and ITGAX (CR4, rs11574637: OR = 0.63, p = 0.0056). Associations reinforced former findings, regarding differential gene expression, serum levels, C3, and MAC deposition on lesions. Deregulation of previously barely noticed processes, e.g., the lectin and alternative pathways and opsonization-mediated phagocytosis, also modulate PF susceptibility. The results open new crucial avenues for understanding disease etiology and may improve PF treatment through additional therapeutic targets." @default.
• W2797592013 created "2018-04-24" @default.
• W2797592013 creator A5029273059 @default.
• W2797592013 creator A5034436231 @default.
• W2797592013 creator A5043274559 @default.
• W2797592013 creator A5073119907 @default.
• W2797592013 creator A5076677236 @default.
• W2797592013 creator A5083560583 @default.
• W2797592013 date "2018-04-09" @default.
• W2797592013 modified "2023-10-12" @default.
• W2797592013 title "Sparking Fire Under the Skin? Answers From the Association of Complement Genes With Pemphigus Foliaceus" @default.
• W2797592013 cites W1483869814 @default.
• W2797592013 cites W1515104755 @default.
• W2797592013 cites W1545566206 @default.
• W2797592013 cites W1561705120 @default.
• W2797592013 cites W1953810587 @default.
• W2797592013 cites W1964690910 @default.
• W2797592013 cites W1965414722 @default.
• W2797592013 cites W1966137959 @default.
• W2797592013 cites W1966740309 @default.
• W2797592013 cites W1967512391 @default.
• W2797592013 cites W1968266616 @default.
• W2797592013 cites W1968655207 @default.
• W2797592013 cites W1968741627 @default.
• W2797592013 cites W1969250364 @default.
• W2797592013 cites W1969538816 @default.
• W2797592013 cites W1971282353 @default.
• W2797592013 cites W1971624923 @default.
• W2797592013 cites W1973394766 @default.
• W2797592013 cites W1973444043 @default.
• W2797592013 cites W1976222207 @default.
• W2797592013 cites W1976674928 @default.
• W2797592013 cites W1977067475 @default.
• W2797592013 cites W1977752036 @default.
• W2797592013 cites W1982493220 @default.
• W2797592013 cites W1985778164 @default.
• W2797592013 cites W1986206860 @default.
• W2797592013 cites W1986866707 @default.
• W2797592013 cites W1987554775 @default.
• W2797592013 cites W1989641026 @default.
• W2797592013 cites W1990643927 @default.
• W2797592013 cites W1991526125 @default.
• W2797592013 cites W1992665403 @default.
• W2797592013 cites W1994047248 @default.
• W2797592013 cites W1995953810 @default.
• W2797592013 cites W2000465734 @default.
• W2797592013 cites W2000531938 @default.
• W2797592013 cites W2000537415 @default.
• W2797592013 cites W2002353148 @default.
• W2797592013 cites W2002948375 @default.
• W2797592013 cites W2003979612 @default.
• W2797592013 cites W2006144219 @default.
• W2797592013 cites W2006315133 @default.
• W2797592013 cites W2006603165 @default.
• W2797592013 cites W2007663198 @default.
• W2797592013 cites W2010970617 @default.
• W2797592013 cites W2013262316 @default.
• W2797592013 cites W2014849086 @default.
• W2797592013 cites W2018838463 @default.
• W2797592013 cites W2022643781 @default.
• W2797592013 cites W2028627896 @default.
• W2797592013 cites W2031402141 @default.
• W2797592013 cites W2032241108 @default.
• W2797592013 cites W2033779494 @default.
• W2797592013 cites W2035332704 @default.
• W2797592013 cites W2035763946 @default.
• W2797592013 cites W2036899968 @default.
• W2797592013 cites W2039035485 @default.
• W2797592013 cites W2044717587 @default.
• W2797592013 cites W2052803026 @default.
• W2797592013 cites W2054615086 @default.
• W2797592013 cites W2059821947 @default.
• W2797592013 cites W2060896921 @default.
• W2797592013 cites W2067337971 @default.
• W2797592013 cites W2069609217 @default.
• W2797592013 cites W2070842905 @default.
• W2797592013 cites W2072584105 @default.
• W2797592013 cites W2074528116 @default.
• W2797592013 cites W2076802877 @default.
• W2797592013 cites W2077672962 @default.
• W2797592013 cites W2083059746 @default.
• W2797592013 cites W2084110344 @default.
• W2797592013 cites W2090659093 @default.
• W2797592013 cites W2091510188 @default.
• W2797592013 cites W2093459707 @default.
• W2797592013 cites W2096159340 @default.
• W2797592013 cites W2100076924 @default.
• W2797592013 cites W2104063702 @default.
• W2797592013 cites W2109529646 @default.
• W2797592013 cites W2110781592 @default.
• W2797592013 cites W2116775934 @default.
• W2797592013 cites W2128016314 @default.
• W2797592013 cites W2129931522 @default.
• W2797592013 cites W2136648677 @default.
• W2797592013 cites W2143172008 @default.
• W2797592013 cites W2148306283 @default.
• W2797592013 cites W2149149076 @default.
• W2797592013 cites W2154759167 @default.
• W2797592013 cites W2157124714 @default.
• W2797592013 cites W2160684214 @default.

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