Lymphoid tyrosine phosphatase R620W variant and inflammatory bowel disease in Tunisia.
OBJECTIVE
To assess the possible association between PTPN22 (R620W) gene polymorphism and inflammatory bowel disease (IBD).


METHODS
One hundred and sixty-four patients with IBD [105 Crohn's disease (CD) and 59 ulcerative colitis (UC)] and 100 healthy controls were recruited. Genotyping of the PTPN22 gene 1858C-->T polymorphism was performed by restriction fragment length polymorphism-polymerase chain reaction with RsaI digestion.


RESULTS
The genotypic and allelic frequencies of (R620W) PTPN22 gene polymorphism reveal a significant association of the PTPN22 620-W allele with IBD, compared to the healthy control group (OR: 17.81, 95% CI: 4.18-21.86, P = 0.00001). Nevertheless, no difference in this polymorphism was found between CD and UC patients. No significant association was found between the frequencies of genotypes of the PTPN22 gene with either the clinical features such as sex, age, age at disease onset, and extent of colitis, or the production of serological markers (anti-Saccharomyces cerevisiae antibody in CD and perinuclear anti-neutrophil cytoplasmic antibody in UC).


CONCLUSIONS
These observations confirm the association of IBD susceptibility with the PTPN22 1858T (620-W) allele in Tunisian patients.
Sfar
Imen
I
Laboratory of Immunology, Charles Nicolle Hospital, Boulevard 9 Avril, Tunis 1006, Tunisia.
Ben Aleya
Walid
W
Mouelhi
Leila
L
Aouadi
Houda
H
Ben Rhomdhane
Thouraya
T
Makhlouf
Mouna
M
Ayed-Jendoubi
Salwa
S
Gargaoui
Houda
H
Najjar
Taoufik
T
Ben Abdallah
Taieb
T
Ayed
Khaled
K
Gorgi
Yousr
Y
D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D014416:Tunisia; D055815:Young Adult
C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22