Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors

Ulrike Hüffmeier, Judith G.M. Bergboer, Tim Becker, John A. Armour, Heiko Traupe, Xavier P. Estivill, Eva Riveira-Munoz, Rotraut Mössner, Kristian Reich, Werner Kurrat, Thomas F. Wienker, Joost Schalkwijk, Patrick L.J.M. Zeeuwen, André Reis

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Recently, a deletion of two late cornified envelope (LCE) genes within the epidermal differentiation complex on chromosome 1 was shown to be overrepresented in 1,426 psoriasis vulgaris (PsV) patients of European ancestry. In this study, we report a confirmation of this finding in 1,354 PsV patients and 937 control individuals of German origin. We found an allele frequency of the deletion of 70.9% in PsV patients and of 64.9% in control individuals (X2= 17.44, P2.97 × 10-5, odds ratio (95% confidence interval)1.31 (1.15-1.48)). The overall copy number of the two LCE genes had no influence on the age of onset, but we observed a dosage effect at the genotype level. There was no evidence of statistically significant interaction with copy number of the Β-defensin cluster on 8p23.1 or with an IL-23R pathway variant in a combined data set of German and Dutch individuals, whereas evidence for interaction with the PSORS1 risk allele in German individuals was marginal and did not remain significant after correction for multiple testing. Our study confirms the recently published finding that the deletion of the two LCE genes is a susceptibility factor for PsV with dosage effect, while, because of power limitation, no final conclusion regarding interaction with other PsV risk factors can be made at this stage.

Original languageEnglish
Pages (from-to)979-984
Number of pages6
JournalJournal of Investigative Dermatology
Issue number4
Publication statusPublished - Apr 2010
Externally publishedYes


ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

Hüffmeier, U., Bergboer, J. G. M., Becker, T., Armour, J. A., Traupe, H., Estivill, X. P., Riveira-Munoz, E., Mössner, R., Reich, K., Kurrat, W., Wienker, T. F., Schalkwijk, J., Zeeuwen, P. L. J. M., & Reis, A. (2010). Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. Journal of Investigative Dermatology, 130(4), 979-984.