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

被引：38

作者：

Tanaka, A. ^{[1
]}

Invernizzi, P. ^{[2
,3
]}

Ohira, H. ^{[4
]}

Kikuchi, K. ^{[5
]}

Nezu, S. ^{[6
]}

Kosoy, R. ^{[3
,7
]}

Seldin, M. F. ^{[3
,7
]}

Gershwin, M. E. ^{[3
]}

Takikawa, H.

机构：

[1] Teikyo Univ, Dept Med, Sch Med, Itabashi Ku, Tokyo 1738605, Japan

[2] IRCCS Ist Clin Humanitas, Div Internal Med, Ctr Autoimmune Liver Dis, Rozzano, Italy

[3] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Davis, CA 95616 USA

[4] Fukushima Med Univ, Sch Med, Dept Gastroenterol & Rheumatol, Fukushima, Japan

[5] Teikyo Univ, Mizonokuchi Hosp, Dept Internal Med 4, Kanagawa, Japan

[6] Kyorin Univ, Sch Med, Dept Internal Med 3, Tokyo, Japan

[7] Univ Calif Davis, Dept Biochem & Mol Med, Davis, CA 95616 USA

来源：

TISSUE ANTIGENS | 2011年 / 78卷 / 01期

关键词：

autoimmune disease; genetic polymorphism; single nucleotide polymorphism; AIOLOS TRANSCRIPTION FACTOR; GENOME-WIDE ASSOCIATION; B-CELL; VARIANTS; POLYMORPHISMS; EXPRESSION; GENETICS; LEUKEMIA; ASTHMA; HELIOS;

D O I：

10.1111/j.1399-0039.2011.01684.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071013 [干细胞生物学];

摘要：

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, P(c) = 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.

引用

页码：65 / 68

页数：4

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