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Dermatology - Immunology - Rheumatology

A Replication Study of the Association between Rheumatoid Arthritis and Deletion of the Late Cornified Envelope Genes LCE3B and LCE3C
Published: Thursday, February 23, 2012
Author: Judith G. M. Bergboer et al.

by Judith G. M. Bergboer, Maša Umicevic-Mirkov, Jaap Fransen, Martin den Heijer, Barbara Franke, Piet L. C. M. van Riel, Joost Schalkwijk, Marieke J. H. Coenen, on behalf of the Nijmegen Biomedical Study principal investigators


Two recent studies, in a Spanish and a Chinese population, point to an association between rheumatoid arthritis (RA) risk and the deletion of the Late Cornified Envelope (LCE) 3B and 3C genes (LCE3C_LCE3B-del), a known risk factor for psoriasis. We aimed to replicate these studies in a large Dutch cohort.


1039 RA cases and 759 controls were genotyped for LCE3C_LCE3B-del. Association analysis was performed for the complete cohort and after stratification for the serologic markers anti-cyclic citrullinated peptide and rheumatoid factor. A meta-analysis was performed combining our data with the Spanish and Chinese datasets, resulting in an analysis including 2466 RA cases and 2438 controls.


In the Dutch cohort we did not observe a significant association of LCE3C_LCE3B-del (p?=?0.093) with RA risk. A stratified analysis for the serologic positive and negative group did not show an association between the genetic variant and disease risk, either. The meta-analysis, however, confirmed a significant association (p<0.0001, OR?=?1.31, 95% confidence interval 1.16–1.47).


Our meta-analysis confirms the association of the LCE3 deletion with RA, suggesting that LCE3C_LCE3B-del is a common risk factor for (auto)immune diseases.