PMID- 11531784
OWN - NLM
STAT- MEDLINE
DCOM- 20010927
LR  - 20190704
IS  - 0007-0963 (Print)
IS  - 0007-0963 (Linking)
VI  - 145
IP  - 2
DP  - 2001 Aug
TI  - A candidate gene analysis of three related photosensitivity disorders: cutaneous 
      lupus erythematosus, polymorphic light eruption and actinic prurigo.
PG  - 229-36
AB  - 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 < 0.001) and healthy controls (P < 
      0.001). However, there was strong linkage disequilibrium between TNF -308 A and 
      the HLA A*01, B*08, DRB1*0301 haplotype. A negative association was also found 
      between SCLE and the IL1B + 3954 T allele (P = 0.039), but the significance was 
      lost on correction for multiple testing. CONCLUSIONS: We have demonstrated the 
      association of SCLE with the rare TNF -308 A allele, which may be pathogenic or, 
      alternatively, a marker allele for the extended HLA A*01, B*08, DRB1*0301 
      haplotype that is associated with a number of autoimmune conditions. Although 
      many of the other loci that we chose failed to demonstrate an association, a 
      candidate gene approach remains the most logical one, and the most likely to 
      yield positive results in the future.
FAU - Millard, T P
AU  - Millard TP
AD  - Department of Photobiology, St. John's Institute of Dermatology, St Thomas' 
      Hospital, London SE1 7EH, UK. thomas.millard@kcl.ac.uk
FAU - Kondeatis, E
AU  - Kondeatis E
FAU - Cox, A
AU  - Cox A
FAU - Wilson, A G
AU  - Wilson AG
FAU - Grabczynska, S A
AU  - Grabczynska SA
FAU - Carey, B S
AU  - Carey BS
FAU - Lewis, C M
AU  - Lewis CM
FAU - Khamashta, M A
AU  - Khamashta MA
FAU - Duff, G W
AU  - Duff GW
FAU - Hughes, G R
AU  - Hughes GR
FAU - Hawk, J L
AU  - Hawk JL
FAU - Vaughan, R W
AU  - Vaughan RW
FAU - McGregor, J M
AU  - McGregor JM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Dermatol
JT  - The British journal of dermatology
JID - 0004041
RN  - 0 (E-Selectin)
RN  - 0 (Interleukin-1)
RN  - 0 (Receptors, IgG)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 126547-89-5 (Intercellular Adhesion Molecule-1)
RN  - 130068-27-8 (Interleukin-10)
SB  - IM
MH  - Alleles
MH  - Case-Control Studies
MH  - E-Selectin/genetics
MH  - Haplotypes
MH  - Humans
MH  - Intercellular Adhesion Molecule-1/genetics
MH  - Interleukin-1/genetics
MH  - Interleukin-10/genetics
MH  - Linkage Disequilibrium
MH  - Lupus Erythematosus, Cutaneous/*genetics
MH  - Lupus Erythematosus, Discoid/genetics
MH  - Odds Ratio
MH  - Photosensitivity Disorders/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Prurigo/*genetics
MH  - Receptors, IgG/genetics
MH  - Tumor Necrosis Factor-alpha/genetics
EDAT- 2001/09/05 10:00
MHDA- 2001/09/28 10:01
CRDT- 2001/09/05 10:00
PHST- 2001/09/05 10:00 [pubmed]
PHST- 2001/09/28 10:01 [medline]
PHST- 2001/09/05 10:00 [entrez]
AID - bjd4339 [pii]
AID - 10.1046/j.1365-2133.2001.04339.x [doi]
PST - ppublish
SO  - Br J Dermatol. 2001 Aug;145(2):229-36. doi: 10.1046/j.1365-2133.2001.04339.x.