A candidate gene analysis of three related photosensitivity disorders: cutaneous lupus erythematosus, polymorphic light eruption and actinic prurigo

Autor: T P Millard, John L.M. Hawk, Angela Cox, Gordon W. Duff, S.A. Grabczynska, Cathryn M. Lewis, Anthony G. Wilson, Munther A. Khamashta, Jane M. McGregor, B S Carey, G. R. V. Hughes, Robert Vaughan, E Kondeatis
Rok vydání: 2001
Předmět:
Zdroj: British Journal of Dermatology. 145:229-236
ISSN: 1365-2133
0007-0963
DOI: 10.1046/j.1365-2133.2001.04339.x
Popis: Background Polymorphic light eruption (PLE) is a common inherited photosensitivity disorder, which may predispose to several related but distinct conditions, including subacute cutaneous lupus erythematosus (SCLE), discoid lupus erythematosus (DLE) and actinic prurigo (AP). Objectives To examine specific candidate genes for shared susceptibility alleles between these related phenotypes. Methods Eighty-five caucasian patients with annular SCLE or DLE were recruited, in addition to 102 first-degree relatives. The prevalence of PLE in both the patient and relative groups was determined by detailed interview and clinical examination. Eighty-five patients with pure PLE and 59 patients with AP were also recruited. Candidate genes were analysed by typing of single nucleotide polymorphisms of IL10 (−1082 G/A and −819 C/T), FCGR2A (131 R/H), SELE (128 S/R), ICAM1 (241 G/R and 469 E/K), IL1A (+ 4845 G/T), IL1B (−511 C/T and + 3954 C/T), IL1RN (+ 2018 T/C) and TNF (–308 G/A) using polymerase chain reaction (PCR) with sequence-specific primers and 5′-nuclease PCR. Results A significant association was found between SCLE and the rare TNF–308 A allele when compared with patients with DLE (P = 0·043), PLE (P = 0·001), AP (P
Databáze: OpenAIRE
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