Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort

Atsushi Tanaka, P. Invernizzi, H. Ohira, K. Kikuchi, S. Nezu, R. Kosoy, Michael F Seldin, M. Eric Gershwin, H. Takikawa

Research output: Contribution to journalArticle

29 Scopus citations


To examine the genetics of susceptibility to primary biliary cirrhosis (PBC), genome-wide association studies GWAS have been performed in patients of European ancestry and have shown the significant associations of IL12-related pathways, SPIB, IRF5-TNPO3, and 17q12-21. We tested whether these findings could be extended to a Japanese cohort, 303 Japanese PBC and 298 controls. We failed to detect significant associations at IL12A (rs574808, rs1075498) and IL12RB2 (rs3790567). There was no genetic variance at IRF5-TNPO3 (rs10488631) in Japanese. A single nucleotide polymorphism (SNP) at SPIB (rs3745516) reached nominal significance, but the corrected P value did not reach significance. For the 17q12-21 region, two SNPs had nominally significant associations [GSDMB (rs2305480, P = 0.022) and ZPBP2 (rs11557467, P = 0.021)] and we noted a significant P value at a SNP in IKZF3 (rs939327, P = 0.0024, Pc = 0.017) after correction for multiple comparisons. Thus, these results indicate a haplotype on 17q12-21 with a similar association in Japanese and European PBC.

Original languageEnglish (US)
Pages (from-to)65-68
Number of pages4
JournalTissue Antigens
Issue number1
StatePublished - Jul 2011



  • Autoimmune disease
  • Genetic polymorphism
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Genetics

Cite this