PMID- 23000144
OWN - NLM
STAT- MEDLINE
DCOM- 20130317
LR  - 20221207
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 91
IP  - 4
DP  - 2012 Oct 5
TI  - Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility 
      loci for primary biliary cirrhosis in the Japanese population.
PG  - 721-8
LID - S0002-9297(12)00422-3 [pii]
LID - 10.1016/j.ajhg.2012.08.010 [doi]
AB  - For the identification of susceptibility loci for primary biliary cirrhosis 
      (PBC), a genome-wide association study (GWAS) was performed in 963 Japanese 
      individuals (487 PBC cases and 476 healthy controls) and in a subsequent 
      replication study that included 1,402 other Japanese individuals (787 cases and 
      615 controls). In addition to the most significant susceptibility region, human 
      leukocyte antigen (HLA), we identified two significant susceptibility loci, 
      TNFSF15 (rs4979462) and POU2AF1 (rs4938534) (combined odds ratio [OR] = 1.56, p = 
      2.84 x 10(-14) for rs4979462, and combined OR = 1.39, p = 2.38 x 10(-8) for 
      rs4938534). Among 21 non-HLA susceptibility loci for PBC identified in GWASs of 
      individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed 
      significant associations (combined p = 3.66 x 10(-8), 3.66 x 10(-9), and 3.04 x 
      10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with 
      PBC (combined p = 1.11 x 10(-6) and 1.42 x 10(-7), respectively) in the Japanese 
      population. These observations indicated the existence of ethnic differences in 
      genetic susceptibility loci to PBC and the importance of TNF signaling and B cell 
      differentiation for the development of PBC in individuals of European descent and 
      Japanese individuals.
CI  - Copyright (c) 2012 The American Society of Human Genetics. Published by Elsevier 
      Inc. All rights reserved.
FAU - Nakamura, Minoru
AU  - Nakamura M
AD  - Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical 
      Center, and Department of Hepatology, Nagasaki University Graduate School of 
      Biomedical Sciences, Omura, Nagasaki 856-8562, Japan. nakamuram@nmc.hosp.go.jp
FAU - Nishida, Nao
AU  - Nishida N
FAU - Kawashima, Minae
AU  - Kawashima M
FAU - Aiba, Yoshihiro
AU  - Aiba Y
FAU - Tanaka, Atsushi
AU  - Tanaka A
FAU - Yasunami, Michio
AU  - Yasunami M
FAU - Nakamura, Hitomi
AU  - Nakamura H
FAU - Komori, Atsumasai
AU  - Komori A
FAU - Nakamuta, Makoto
AU  - Nakamuta M
FAU - Zeniya, Mikio
AU  - Zeniya M
FAU - Hashimoto, Etsuko
AU  - Hashimoto E
FAU - Ohira, Hiromasa
AU  - Ohira H
FAU - Yamamoto, Kazuhide
AU  - Yamamoto K
FAU - Onji, Morikazu
AU  - Onji M
FAU - Kaneko, Shuichi
AU  - Kaneko S
FAU - Honda, Masao
AU  - Honda M
FAU - Yamagiwa, Satoshi
AU  - Yamagiwa S
FAU - Nakao, Kazuhiko
AU  - Nakao K
FAU - Ichida, Takafumi
AU  - Ichida T
FAU - Takikawa, Hajime
AU  - Takikawa H
FAU - Seike, Masataka
AU  - Seike M
FAU - Umemura, Takeji
AU  - Umemura T
FAU - Ueno, Yoshiyuki
AU  - Ueno Y
FAU - Sakisaka, Shotaro
AU  - Sakisaka S
FAU - Kikuchi, Kentaro
AU  - Kikuchi K
FAU - Ebinuma, Hirotoshi
AU  - Ebinuma H
FAU - Yamashiki, Noriyo
AU  - Yamashiki N
FAU - Tamura, Sumito
AU  - Tamura S
FAU - Sugawara, Yasuhiko
AU  - Sugawara Y
FAU - Mori, Akira
AU  - Mori A
FAU - Yagi, Shintaro
AU  - Yagi S
FAU - Shirabe, Ken
AU  - Shirabe K
FAU - Taketomi, Akinobu
AU  - Taketomi A
FAU - Arai, Kuniaki
AU  - Arai K
FAU - Monoe, Kyoko
AU  - Monoe K
FAU - Ichikawa, Tatsuki
AU  - Ichikawa T
FAU - Taniai, Makiko
AU  - Taniai M
FAU - Miyake, Yasuhiro
AU  - Miyake Y
FAU - Kumagi, Teru
AU  - Kumagi T
FAU - Abe, Masanori
AU  - Abe M
FAU - Yoshizawa, Kaname
AU  - Yoshizawa K
FAU - Joshita, Satoru
AU  - Joshita S
FAU - Shimoda, Shinji
AU  - Shimoda S
FAU - Honda, Koichi
AU  - Honda K
FAU - Takahashi, Hiroki
AU  - Takahashi H
FAU - Hirano, Katsuji
AU  - Hirano K
FAU - Takeyama, Yasuaki
AU  - Takeyama Y
FAU - Harada, Kenichi
AU  - Harada K
FAU - Migita, Kiyoshi
AU  - Migita K
FAU - Ito, Masahiro
AU  - Ito M
FAU - Yatsuhashi, Hiroshi
AU  - Yatsuhashi H
FAU - Fukushima, Nobuyoshi
AU  - Fukushima N
FAU - Ota, Hajime
AU  - Ota H
FAU - Komatsu, Tatsuji
AU  - Komatsu T
FAU - Saoshiro, Takeo
AU  - Saoshiro T
FAU - Ishida, Jinya
AU  - Ishida J
FAU - Kouno, Hirotsugu
AU  - Kouno H
FAU - Kouno, Hirotaka
AU  - Kouno H
FAU - Yagura, Michiyasu
AU  - Yagura M
FAU - Kobayashi, Masakazu
AU  - Kobayashi M
FAU - Muro, Toyokichi
AU  - Muro T
FAU - Masaki, Naohiko
AU  - Masaki N
FAU - Hirata, Keiichi
AU  - Hirata K
FAU - Watanabe, Yukio
AU  - Watanabe Y
FAU - Nakamura, Yoko
AU  - Nakamura Y
FAU - Shimada, Masaaki
AU  - Shimada M
FAU - Hirashima, Noboru
AU  - Hirashima N
FAU - Komeda, Toshiki
AU  - Komeda T
FAU - Sugi, Kazuhiro
AU  - Sugi K
FAU - Koga, Michiaki
AU  - Koga M
FAU - Ario, Keisuke
AU  - Ario K
FAU - Takesaki, Eiichi
AU  - Takesaki E
FAU - Maehara, Yoshihiko
AU  - Maehara Y
FAU - Uemoto, Shinji
AU  - Uemoto S
FAU - Kokudo, Norihiro
AU  - Kokudo N
FAU - Tsubouchi, Hirohito
AU  - Tsubouchi H
FAU - Mizokami, Masashi
AU  - Mizokami M
FAU - Nakanuma, Yasuni
AU  - Nakanuma Y
FAU - Tokunaga, Katsushi
AU  - Tokunaga K
FAU - Ishibashi, Hiromi
AU  - Ishibashi H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120920
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (HLA Antigens)
RN  - 0 (NF-kappa B p50 Subunit)
RN  - 0 (NFKB1 protein, human)
RN  - 0 (POU2AF1 protein, human)
RN  - 0 (STAT4 Transcription Factor)
RN  - 0 (TNF protein, human)
RN  - 0 (TNFSF15 protein, human)
RN  - 0 (Trans-Activators)
RN  - 0 (Tumor Necrosis Factor Ligand Superfamily Member 15)
RN  - 0 (Tumor Necrosis Factor-alpha)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Asian People
MH  - B-Lymphocytes
MH  - Case-Control Studies
MH  - Cell Differentiation/genetics
MH  - Female
MH  - Genetic Loci/genetics
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study/methods
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Liver Cirrhosis, Biliary/*genetics
MH  - Male
MH  - Middle Aged
MH  - NF-kappa B p50 Subunit/genetics
MH  - Polymorphism, Genetic
MH  - STAT4 Transcription Factor/genetics
MH  - Trans-Activators/*genetics
MH  - Tumor Necrosis Factor Ligand Superfamily Member 15/*genetics
MH  - Tumor Necrosis Factor-alpha/genetics
MH  - White People/genetics
MH  - Young Adult
PMC - PMC3484650
EDAT- 2012/09/25 06:00
MHDA- 2013/03/19 06:00
PMCR- 2013/04/05
CRDT- 2012/09/25 06:00
PHST- 2012/04/15 00:00 [received]
PHST- 2012/06/03 00:00 [revised]
PHST- 2012/08/08 00:00 [accepted]
PHST- 2012/09/25 06:00 [entrez]
PHST- 2012/09/25 06:00 [pubmed]
PHST- 2013/03/19 06:00 [medline]
PHST- 2013/04/05 00:00 [pmc-release]
AID - S0002-9297(12)00422-3 [pii]
AID - AJHG1237 [pii]
AID - 10.1016/j.ajhg.2012.08.010 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2012 Oct 5;91(4):721-8. doi: 10.1016/j.ajhg.2012.08.010. Epub 
      2012 Sep 20.