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

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Abstract

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
Volume78
Issue number1
DOIs
StatePublished - Jul 2011

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Biliary Liver Cirrhosis
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genetic Predisposition to Disease
Interleukin-12
Haplotypes

Keywords

  • Autoimmune disease
  • Genetic polymorphism
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Genetics

Cite this

Tanaka, A., Invernizzi, P., Ohira, H., Kikuchi, K., Nezu, S., Kosoy, R., ... Takikawa, H. (2011). Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort. Tissue Antigens, 78(1), 65-68. https://doi.org/10.1111/j.1399-0039.2011.01684.x

Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort. / Tanaka, Atsushi; Invernizzi, P.; Ohira, H.; Kikuchi, K.; Nezu, S.; Kosoy, R.; Seldin, Michael F; Gershwin, M. Eric; Takikawa, H.

In: Tissue Antigens, Vol. 78, No. 1, 07.2011, p. 65-68.

Research output: Contribution to journalArticle

Tanaka, Atsushi ; Invernizzi, P. ; Ohira, H. ; Kikuchi, K. ; Nezu, S. ; Kosoy, R. ; Seldin, Michael F ; Gershwin, M. Eric ; Takikawa, H. / Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort. In: Tissue Antigens. 2011 ; Vol. 78, No. 1. pp. 65-68.
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