The association of the PTPN22 620W polymorphism with Behcet's disease.
OBJECTIVE
A single nucleotide polymorphism (SNP) of the gene encoding protein tyrosine phosphatase type 22 (PTPN22 620W) has recently been described as a strong common genetic risk factor for human autoimmune disease. We have analysed the association of PTPN22 620W in patients with Behçet's disease (BD).


METHODS
Genomic DNA was obtained from 270 patients with BD from the UK and the Middle East. Normal controls (n = 203) were collected from the same populations. Patients with idiopathic retinal vasculitis from the UK (n = 136) were used as disease controls. PTPN22 620W was detected by SSP-PCR analysis and agarose gel electrophoresis.


RESULTS
The results showed an inverse correlation between the presence of PTPN22 620W and Behçet's disease in either patient group tested. There was a greatly reduced prevalence in Middle Eastern compared to UK patients and controls. Finally, there was no association with either UK patients with retinal vasculitis compared with UK controls.


CONCLUSIONS
The presence of PTPN22 620W was inversely associated with BD and the distribution of the SNP in the Middle East supports previous findings in the global prevalence.
Department of Ophthalmology, Guy's, King's and St Thomas' Hospital Medical Schools.
Vijay
V
Baranathan
Miles R
MR
Stanford
Robert W
RW
Vaughan
Elli
E
Kondeatis
Elizabeth
E
Graham
Farida
F
Fortune
Wafa
W
Madanat
Charlie
C
Kanawati
Marwen
M
Ghabra
Philip I
PI
Murray
Graham R
GR
Wallace
D000368:Aged; D018912:Arabs / Q000235:genetics; D001528:Behcet Syndrome / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D008877:Middle East; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D031300:Retinal Vasculitis / Q000235:genetics
C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases