PMID- 19758313
OWN - NLM
STAT- MEDLINE
DCOM- 20100520
LR  - 20121115
IS  - 1600-0625 (Electronic)
IS  - 0906-6705 (Linking)
VI  - 19
IP  - 2
DP  - 2010 Feb
TI  - Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated 
      with discoid and subacute cutaneous lupus erythematosus.
PG  - 123-31
LID - 10.1111/j.1600-0625.2009.00982.x [doi]
AB  - Lupus erythematosus (LE) is a heterogeneous disease ranging from skin-restricted 
      manifestations to a progressive multisystem disease. The specific skin lesions 
      include chronic cutaneous, subacute cutaneous and acute cutaneous LE. Both 
      genetic and environmental factors are involved in the development of LE. However, 
      reports on the genetic background of cutaneous lupus erythematosus (CLE) forms, 
      namely discoid (DLE) and subacute cutaneous lupus erythematosus (SCLE), are 
      sparse. We investigated whether the known systemic LE (SLE) susceptibility genes 
      also predispose to CLE. Altogether, 219 Finnish patients with DLE or SCLE and 356 
      healthy controls were recruited. Single nucleotide polymorphisms tagging reported 
      risk genes were genotyped. Tyrosine kinase 2 (TYK2) rs2304256 was associated with 
      increased risk of DLE (P = 0.012, OR = 1.47, 95% CI = 1.01-1.98). Expression of 
      TYK2 was demonstrated by immunohistochemistry in macrophage-like cells and 
      neutrophils and interferon regulatory factor 5 (IRF5) in macrophage- and 
      fibroblast-like cells of DLE, SCLE and SLE skin. IRF5 rs10954213 showed 
      association with DLE (P = 0.017, OR = 1.40, 95% CI = 1.06-1.86) and SCLE (P = 
      0.022, OR = 1.87, 95% CI = 1.09-3.21). A haplotype of cytotoxic 
      T-lymphocyte-associated protein 4 (CTLA4) showed association with DLE (P = 
      0.0065, OR = 2.51, 95% CI = 1.25-5.04). Our results show that the TYK2, IRF5 and 
      CTLA4 genes previously associated with SLE also confer risk for DLE and SCLE, 
      suggesting that different LE subphenotypes may share pathogenetic pathways.
FAU - Jarvinen, Tiina M
AU  - Jarvinen TM
AD  - Department of Dermatology, Institute of Clinical Medicine, University of Helsinki 
      and Helsinki University Central Hospital, Helsinki, Finland.
FAU - Hellquist, Anna
AU  - Hellquist A
FAU - Koskenmies, Sari
AU  - Koskenmies S
FAU - Einarsdottir, Elisabet
AU  - Einarsdottir E
FAU - Koskinen, Lotta L E
AU  - Koskinen LL
FAU - Jeskanen, Leila
AU  - Jeskanen L
FAU - Berglind, Linda
AU  - Berglind L
FAU - Panelius, Jaana
AU  - Panelius J
FAU - Hasan, Taina
AU  - Hasan T
FAU - Ranki, Annamari
AU  - Ranki A
FAU - Kere, Juha
AU  - Kere J
FAU - Saarialho-Kere, Ulpu
AU  - Saarialho-Kere U
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090916
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 0 (Antigens, CD)
RN  - 0 (CTLA-4 Antigen)
RN  - 0 (CTLA4 protein, human)
RN  - 0 (IRF5 protein, human)
RN  - 0 (Interferon Regulatory Factors)
RN  - EC 2.7.10.2 (TYK2 Kinase)
RN  - EC 2.7.10.2 (TYK2 protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Antigens, CD/*genetics
MH  - CTLA-4 Antigen
MH  - Case-Control Studies
MH  - Female
MH  - Finland
MH  - Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Interferon Regulatory Factors/*genetics
MH  - Lupus Erythematosus, Discoid/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - TYK2 Kinase/*genetics
MH  - Up-Regulation
MH  - Young Adult
EDAT- 2009/09/18 06:00
MHDA- 2010/05/21 06:00
CRDT- 2009/09/18 06:00
PHST- 2009/09/18 06:00 [entrez]
PHST- 2009/09/18 06:00 [pubmed]
PHST- 2010/05/21 06:00 [medline]
AID - EXD982 [pii]
AID - 10.1111/j.1600-0625.2009.00982.x [doi]
PST - ppublish
SO  - Exp Dermatol. 2010 Feb;19(2):123-31. doi: 10.1111/j.1600-0625.2009.00982.x. Epub 
      2009 Sep 16.