For citation purposes: Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen JT, Hoffjan S. Association of variation in the CLDN1 gene with atopic dermatitis in a German case-control cohort. OA Dermatology 2013 Oct 01;1(1):5.

Research study


Association of variation in the CLDN1 gene with atopic dermatitis in a German case-control cohort

S Stemmler, Q Parwez, E Petrasch-Parwez, JT Epplen,, S Hoffjan

Authors affiliations

(1) Department of Human Genetics, Ruhr-University, Bochum, Germany

(2) Private medical practice, Gladbeck, Germany

(3) Department of Neuroanatomy and Molecular Brain Research, Ruhr-University Bochum, Germany

(4) Witten/Herdecke University, Witten, Germany

* Corresponding author Email:



Atopic dermatitis is a chronic inflammatory skin disorder caused by complex interaction of genetic and environmental factors. Mutations in the gene encoding filaggrin, a major structural protein in the epidermis, constitute the most significant known risk factor for Atopic dermatitis development so far, implying an impaired skin barrier function as a major pathogenic mechanism in Atopic dermatitis development. However, a reduced skin barrier function has been demonstrated in Atopic dermatitis patients irrespective of Filaggrin genotype, suggesting that other factors may also modulate skin barrier integrity. It was recently shown the expression of Claudin-1, a major tight junction protein in the granular layer, was reduced in the skin of Atopic dermatitis patients and that variation in the Claudin-1 gene was associated with Atopic dermatitis in two small American populations. For replication of these findings, we investigated the role of Claudin-1 variation in an independent German case-control cohort.

Materials and Methods

Six single nucleotide polymorphisms (SNPs) in the Claudin-1 gene, including rs16865373 that had shown association with Atopic dermatitis in the European American cohort, were genotyped in 451 unrelated Atopic dermatitis patients and 375 non-atopic controls by means of restriction enzyme digestion. Allele, genotype and haplotype frequencies were subsequently compared between cases and controls.


In this analysis, none of the investigated Single nucleotide polymorphisms or haplotypes in the Claudin-1 gene showed a significant association with Atopic dermatitis.


Our results do not support a substantial role for Claudin-1 variation in Atopic dermatitis pathogenesis. Yet, additional studies in independent cohorts are needed to confirm these results.

Licensee OA Publishing London 2013. Creative Commons Attribution License (CC-BY)