Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.
OBJECTIVE
Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder against melanocytes. Polymorphisms of the protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have recently been reported to be associated with susceptibility to several autoimmune diseases. In this study, genetic susceptibility to VKH disease was investigated by screening for single nucleotide polymorphisms (SNPs) of PTPN22.


METHODS
A total of 167 Japanese patients with VKH disease and 188 healthy Japanese controls were genotyped by direct sequencing methods for six SNPs (rs3811021, rs1217413, rs1237682, rs3761935, rs3789608, and rs2243471) of PTPN22 including the uncoding exons.


RESULTS
The six SNPs in PTPN22 showed no significant association with susceptibility to VKH disease or its ocular, neurologic, or dermatological manifestation.


CONCLUSIONS
Further studies are needed to clarify the genetic mechanisms underlying VKH disease.
Horie
Yukihiro
Y
Department of Ophthalmology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Japan. y-horie@med.hokudai.ac.jp
Kitaichi
Nobuyoshi
N
Katsuyama
Yoshihiko
Y
Yoshida
Kazuhiko
K
Miura
Toshie
T
Ota
Masao
M
Asukata
Yuri
Y
Inoko
Hidetoshi
H
Mizuki
Nobuhisa
N
Ishida
Susumu
S
Ohno
Shigeaki
S
D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014607:Uveomeningoencephalitic Syndrome / Q000235:genetics*
C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22