Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population.
Tyrosine kinase 2 (TYK2) is a type I interferon (IFN) signaling pathway gene and was previously reported to be a risk factor for systemic lupus erythematosus (SLE) in Caucasian populations. In order to test for its genetic association with SLE in a Japanese population, TYK2 single nucleotide polymorphisms (SNPs), rs2304256, rs12720270 and rs280519, were genotyped. A case-control association study was performed in a total of 411 Japanese SLE patients and 467 healthy controls. Linkage disequilibrium (LD) among TYK2 SNPs was examined. According to the data from 94 healthy controls, non-synonymous rs2304256 resulting in Val --> Phe substitution was revealed to be in a LD with rs12720270 and rs280519. Therefore, we further genotyped rs2304256 as a tag SNP in the full sample sets. As a result, no differences in genotype distribution and allelic frequencies of rs2304256 were found between SLE patients and healthy controls. In conclusion, TYK2 is not a genetic risk factor for SLE in a Japanese population. Our result suggests that there is an ethnic difference in the susceptibility genes for SLE.
Department of Clinical Pathology and Immunology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650-0017, Japan. k-chieko@umin.ac.jp
Chieko
C
Kyogoku
Akio
A
Morinobu
Kunihiro
K
Nishimura
Daisuke
D
Sugiyama
Hiroshi
H
Hashimoto
Yoshiaki
Y
Tokano
Tsuneyo
T
Mimori
Chikashi
C
Terao
Fumihiko
F
Matsuda
Takayoshi
T
Kuno
Shunichi
S
Kumagai
D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D015810:Linkage Disequilibrium / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D053634:TYK2 Kinase / Q000235:genetics* / Q000378:metabolism
D053634:TYK2 Kinase; C070139:TYK2 protein, human