NOD2/CARD15 gene polymorphisms in idiopathic pulmonary fibrosis.
BACKGROUND
Micro-organisms, behaving in a non-infectious fashion, may be among the exogenous factor(s) believed to trigger idiopathic pulmonary fibrosis (IPF). One possible strategy to identify an individual's susceptibility to such microbial triggers, which are likely to be ubiquitous, is to investigate the molecular processes involved in their recognition. NOD2/CARD15 is a specific pattern recognition receptor protein, whose genetic variants have been previously associated with susceptibility to Crohn's disease.


OBJECTIVE
The aim of this work was to determine the frequencies of the three major NOD2/CARD 15 gene mutations (R702W, G908R and 1007fsinC) in a series of 76 subjects affected by IPF, and to compare them with those found in three groups of controls: a group with sarcoidosis (a disorder in which an involvement of the NOD2/CARD15 gene has already been investigated and rejected in different ethnic groups; 67 subjects) and two groups of healthy subjects (218 and 208 subjects, respectively), matched for gender, age, and ethnicity.


RESULTS
We found no differences in frequencies of NOD2/CARD15 gene polymorphisms among the four groups investigated.


CONCLUSIONS
We conclude that the NOD2/CARD15 gene is not likely to be involved in susceptibility to IPF in Italians.
Zorzetto
Michele
M
Laboratorio di Biochimica e Genetica, Clinica di Malattie dell'Apparato Respiratorio, IRCCS Policlinico San Matteo, Università di Pavia.
Ferrarotti
Ilaria
I
Campo
Ilaria
I
Trisolini
Rocco
R
Poletti
Venerino
V
Scabini
Roberta
R
Ceruti
Michele
M
Mazzola
Paola
P
Crippa
Elena
E
Ottaviani
Stefania
S
Agostini
Carlo
C
Semenzato
Gianpietro
G
Pozzi
Ernesto
E
Luisetti
Maurizio
M
D000368:Aged; D019943:Amino Acid Substitution; D017931:DNA Primers; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D020641:Polymorphism, Single Nucleotide; D011658:Pulmonary Fibrosis / Q000235:genetics*; D012016:Reference Values; D012507:Sarcoidosis / Q000235:genetics; D044465:White People
D017931:DNA Primers; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein