Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris

F Capon, J Bharkhada, N E Cochrane, N J Mortimer, J F Setterfield, S Reynaert, M M Black, R C Trembath, K E Harman, Robert Vaughan

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28 Citations (Scopus)


Background Pemphigus vulgaris (PV, OMIM 169610) is a severe blistering disorder of the skin and mucous membranes, caused by the production of autoantibodies directed against the epithelial adhesive protein desmoglein 3. Although an association between PV and HLA class II alleles has been established, the genetic factors predisposing to the disease remain poorly understood, the rarity of PV hampering the recruitment of substantial patient cohorts. Objectives To investigate DSG3 as a candidate PV susceptibility gene. Methods We examined five DSG3 single nucleotide polymorphisms (rs8085532, rs3911655, rs3848485, rs3794925 and rs1466379) in two case-control datasets respectively originating from the U.K. (62 PV patients, 154 controls) and northern India (28 patients, 98 controls). Results In the U.K. sample, we observed a significant association between PV and the DSG3*TCCTC haplotype (Fisher's exact test P = 0.002). A related haplotype (DSG3*TCCCC) was associated with PV in the Indian dataset (P = 0.002). We also found that all British and Indian patients bearing DSG3 risk haplotypes carried at least one copy of a PV-associated HLA allele. Conclusions These results suggest that genetic variation of DSG3 may be an additive risk factor predisposing to PV and warrant further investigations of this gene
Original languageEnglish
Pages (from-to)67 - 71
Number of pages5
JournalBritish Journal of Dermatology
Issue number1
Publication statusPublished - Jan 2006


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