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Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis
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2003 (Engelska)Ingår i: British Journal of Dermatology, ISSN 0007-0963, E-ISSN 1365-2133, Vol. 149, nr 2, s. 381-385Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

BACKGROUND: The anti-inflammatory cytokine interleukin (IL)-10 is considered to play a major role in the pathophysiology of psoriasis, which is characterized by an IL-10 deficiency. Systemic administration of IL-10 has been shown to be an effective therapy for psoriasis. The IL-10 promoter region contains a highly polymorphic microsatellite (IL10.G) and in a recent case-control study the IL10.G13 (144 bp) allele was found to be associated with familial early onset psoriasis (type 1 psoriasis) having a susceptible effect.

OBJECTIVES: As it is essential in multifactorial diseases to replicate findings before definite conclusions can be drawn, we decided to perform a follow-up study and to follow a genetic approach analysing allele transmission in families with a positive family history of psoriasis.

METHODS: We studied 137 nuclear families (trio-design) comprising 456 individuals and genotyped the IL10.G marker. For comparison we also genotyped the microsatellite tn62 as a reference marker of the major psoriasis susceptibility locus on chromosome 6p21 (PSORS1). In the present study allele transmission was evaluated using the family-based association test (FBAT) and GENEHUNTER 2.0 based on the transmission/disequilibrium test.

RESULTS: The G13 allele (144 bp) had a frequency of 24%, was present in 88 families and clearly showed an even transmission (FBAT, P = 0.753). In contrast, allele 3 (IL10.G9) (136 bp) had a frequency of 39%, was present in 110 families and was transmitted in 43 trios and remained untransmitted in 67 trios (FBAT, P = 0.026), thus showing preferential nontransmission. For the HLA-linked tn62-marker we obtained a P-value of 0.00027 for allele 4 in the same study group.

CONCLUSIONS: In conclusion, we failed to confirm the susceptible effect of the G13 allele, but provide the first data for a protective effect of allele 3 (IL10.G9) for familial psoriasis. Our results suggest that the IL10.G polymorphism is not a major locus, but acts as a minor locus.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2003. Vol. 149, nr 2, s. 381-385
Nyckelord [en]
complex diseases;cytokine;disease susceptibility;genetics;promoter polymorphism;psoriasis
Nationell ämneskategori
Dermatologi och venereologi
Identifikatorer
URN: urn:nbn:se:umu:diva-82437DOI: 10.1046/j.1365-2133.2003.05411.xISI: 000185104900023PubMedID: 12932247OAI: oai:DiVA.org:umu-82437DiVA, id: diva2:661178
Tillgänglig från: 2013-11-01 Skapad: 2013-11-01 Senast uppdaterad: 2018-06-08Bibliografiskt granskad

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Schmitt-Egenolf, Marcus

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