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.
Hüffmeier
Ulrike
U
Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, 91054 Erlangen, Germany.
Estivill
Xavier
X
Riveira-Munoz
Eva
E
Traupe
Heiko
H
Wendler
Jörg
J
Lohmann
Jörg
J
Böhm
Beate
B
Burkhardt
Harald
H
Reis
André
A
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