Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis.
BACKGROUND
The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc).


METHODS
In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes.


RESULTS
No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis.


CONCLUSIONS
Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.
Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Avda, del Conocimiento s/n, 18010, Granada, SpainArmilla (Granada), Spain. mteruel@ipb.csic.es
María
M
Teruel
Carmen P
CP
Simeon
Jasper
J
Broen
Madelon C
MC
Vonk
Patricia
P
Carreira
Maria Teresa
MT
Camps
Rosa
R
García-Portales
Esmeralda
E
Delgado-Frías
Maria
M
Gallego
Gerard
G
Espinosa
Lorenzo
L
Beretta
Paolo
P
Airó
Claudio
C
Lunardi
Gabriela
G
Riemekasten
Torsten
T
Witte
Thomas
T
Krieg
Alexander
A
Kreuter
Jörg H W
JH
Distler
Nicolas
N
Hunzelmann
Bobby P
BP
Koeleman
Alexandre E
AE
Voskuyl
Annemie J
AJ
Schuerwegh
Miguel Angel
MA
González-Gay
Timothy R D J
TR
Radstake
Javier
J
Martin
D019013:CD40 Antigens / Q000235:genetics*; D023201:CD40 Ligand / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics*
D019013:CD40 Antigens; D023201:CD40 Ligand