2024-03-29T15:23:45Z
https://soar-ir.repo.nii.ac.jp/oai
oai:soar-ir.repo.nii.ac.jp:00020237
2022-12-14T04:40:39Z
461:462
Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan
Umemura, Takeji
Joshita, Satoru
Yamazaki, Tomoo
Komatsu, Michiharu
Katsuyama, Yoshihiko
Yoshizawa, Kaname
Tanaka, Eiji
Ota, Masao
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Autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) are liver-specific autoimmune conditions that are characterized by chronic hepatic damage and often lead to cirrhosis and hepatic failure. Specifically, the protein tyrosine phosphatase N22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase, which acts as a negative regulator of T-cell receptor signaling. A missense single nucleotide polymorphism (SNP) (rs2476601) in PTPN22 has been linked to numerous autoimmune diseases in Caucasians. In the present series, nine SNPs in the PTPN22 gene were analyzed in 166 patients with AIH, 262 patients with PBC, and 322 healthy controls in the Japanese population using TaqMan assays. Although the functional rs3996649 and rs2476601 were non-polymorphic in all subject groups, the frequencies of the minor alleles at rs1217412, rs1217388, rs1217407, and rs2488458 were significantly decreased in AIH patients as compared with controls (all Pc < 0.05). There were no significant relationships with PTPN22 SNPs in PBC patients. Interestingly, the AAGTCCC haplotype was significantly associated with resistance to both AIH (odds ratio [OR] = 0.58, P = 0.0067) and PBC (OR = 0.58, P = 0.0048). SNPs in the PTPN22 gene may therefore play key roles in the genetic resistance to autoimmune liver disease in the Japanese.
Article
SCIENTIFIC REPORTS.6:29770(2016)
NATURE PUBLISHING GROUP
2016-07-11
eng
journal article
VoR
http://hdl.handle.net/10091/00020995
https://soar-ir.repo.nii.ac.jp/records/20237
https://www.ncbi.nlm.nih.gov/pubmed/27406031
27406031
https://doi.org/10.1038/srep29770
10.1038/srep29770
2045-2322
SCIENTIFIC REPORTS
6
29770
https://soar-ir.repo.nii.ac.jp/record/20237/files/srep29770.pdf
application/pdf
471.2 kB
2018-10-31