Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients.
BACKGROUND
Psoriasis susceptibility locus 4 (PSORS4) is a susceptibility locus for psoriasis vulgaris (PsV), a common inflammatory, hyperproliferative skin disorder. Recently, a deletion of 2 late cornified envelope (LCE) genes within epidermal differentiation complex on chromosome 1 was shown to be enriched in 1426 patients with PsV, suggesting compromised barrier function in deletion carriers. This genetic association was subsequently confirmed in a German cohort.


METHODS
In order to investigate whether this variant also predisposes to psoriatic arthritis (PsA), this deletion and 3 single nucleotide polymorphisms (SNPs) in strong linkage disequilibrium with it were genotyped in a case-control cohort of 650 patients and 937 control individuals of German origin.


RESULTS
LCE deletion frequency did not significantly differ between patients with PsA and controls (65.0% vs 65.5%). Similarly, no evidence for association to the three SNPs was observed.


CONCLUSIONS
This is the first non-human leucocyte antigen (HLA) risk factor predisposing only to skin type of psoriasis, supporting the concept of partially overlapping but different aetiological factors underlying skin and joint manifestations.
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, 91054 Erlangen, Germany.
Ulrike
U
Hüffmeier
Xavier
X
Estivill
Eva
E
Riveira-Munoz
Heiko
H
Traupe
Jörg
J
Wendler
Jörg
J
Lohmann
Beate
B
Böhm
Harald
H
Burkhardt
André
A
Reis
D000293:Adolescent; D000328:Adult; D015535:Arthritis, Psoriatic / Q000235:genetics*; D016022:Case-Control Studies; D055233:Cornified Envelope Proline-Rich Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005858:Germany; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D055815:Young Adult
D055233:Cornified Envelope Proline-Rich Proteins; C524768:LCE3C protein, human