Archive for the 'J Invest Dermatol' Category

Increased frequency of Ig heavy-chain HS1,2-A enhancer *2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis.

Sunday, August 3rd, 2008

Related ArticlesIncreased frequency of Ig heavy-chain HS1,2-A enhancer *2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis.

J Invest Dermatol. 2008 Aug;128(8):1920-4

Authors: Cianci R, Giambra V, Mattioli C, Esposito M, Cammarota G, Scibilia G, Magazzù G, Orlando A, Sandri G, Bianchi L, Gasbarrini GB, Pandolfi F, Frezza D

The enhancer DNase-hypersensitive region 1,2 (HS1,2), a member of the Ig heavy-chain 3′ regulatory region (3′RR) cluster, is active in human B cells transfected with reporter genes and in mouse is activated in late maturation. HS1,2-A contains binding sites for several transcription factors. There are four known alleles, that is, (*)1, (*)2, (*)3, and (*)4, which differ in their lengths in transcription factor binding. We showed that in celiac disease the frequency of the (*)2 allele is increased. Both dermatitis herpetiformis (DH) and psoriasis can be associated with different frequencies with celiac disease. Thus, we further investigate the frequency of allele (*)2 in DH, plaque psoriatic, and psoriatic arthritis patients. HS1,2-A allele frequencies were investigated in 37 DH, 61 plaque psoriatic, 28 psoriatic arthritis patients, and 265 healthy donors, age- and sex-matched, from the same geographical area. The frequency of the (*)2 allele changes from 0.39 in controls to 0.63 in DH, 0.59 in plaque psoriasis and 0.75 in psoriatic arthritis (P between 10(-4)-10(-5)). Our data evidence an increased frequency of the (*)2 allele of HS1,2-A in these cutaneous immune-related disorders. We suggest a related genetic predisposition in these pathogeneses.

PMID: 18323783 [PubMed - indexed for MEDLINE]

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Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients.

Thursday, January 25th, 2007

Related ArticlesLoss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients.

J Invest Dermatol. 2007 Jan 25;

Authors: Hüffmeier U, Traupe H, Oji V, Lascorz J, Ständer M, Lohmann J, Wendler J, Burkhardt H, Reis A

Psoriasis vulgaris and atopic dermatitis share a number of features such as chronic cutaneous inflammation and disturbed epidermal barrier function. Genome-wide scans have revealed a conspicuous overlap of susceptibility loci for both diseases involving chromosomal regions 1q21, 3q21, 17q25, and 20p12. Recently, two loss-of-function variants in the gene encoding filaggrin at 1q21 were shown to be strongly associated with atopic dermatitis. In view of a possible genetic overlap of the two skin diseases, we investigated 375 patients suffering from psoriasis vulgaris, 375 patients with psoriatic arthritis, and 376 control probands. Moreover we directly studied expression of filaggrin in 10 patients suffering from psoriasis vulgaris. Our immunohistochemical analysis revealed a checkered pattern with alternating positive broadened or almost absent filaggrin expression. However, no association was found for the two variants of filaggrin (FLG). We conclude that despite a markedly altered filaggrin expression in psoriatic skin, loss-of-function variants of the FLG gene are neither associated with psoriasis vulgaris nor with psoriatic arthritis. The abnormal staining might reflect the altered epidermal differentiation. Our findings imply that the genetic background underlying the epidermal barrier defect in psoriasis is distinct from that found in atopic dermatitis.Journal of Investigative Dermatology advance online publication, 25 January 2007; doi:10.1038/sj.jid.5700720.

PMID: 17255953 [PubMed - as supplied by publisher]

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