Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

被引：335

作者：

Liu, Xiangdong ^{[2
,10
]}

Invernizzi, Pietro ^{[1
,3
]}

Lu, Yue ^{[4
]}

Kosoy, Roman ^{[1
]}

Lu, Yan ^{[2
]}

Bianchi, Ilaria ^{[3
,5
]}

Podda, Mauro ^{[3
,5
]}

Xu, Chun ^{[2
]}

Xie, Gang ^{[2
]}

Macciardi, Fabio ^{[5
,6
]}

Selmi, Carlo ^{[1
,3
,5
]}

Lupoli, Sara ^{[7
]}

Shigeta, Russell ^{[1
]}

Ransom, Michael ^{[1
]}

Lleo, Ana ^{[1
,3
,5
]}

Lee, Annette T. ^{[8
]}

Mason, Andrew L. ^{[9
]}

Myers, Robert P. ^{[10
]}

Peltekian, Kevork M. ^{[11
]}

Ghent, Cameron N. ^{[12
]}

Bernuzzi, Francesca ^{[3
,5
]}

Zuin, Massimo ^{[5
]}

Rosina, Floriano ^{[13
]}

Borghesio, Elisabetta ^{[13
]}

Floreani, Annarosa ^{[14
]}

Lazzari, Roberta ^{[14
]}

Niro, Grazia ^{[15
]}

Andriulli, Angelo ^{[15
]}

Muratori, Luigi ^{[16
]}

Muratori, Paolo ^{[16
]}

Almasio, Piero L. ^{[17
]}

Andreone, Pietro ^{[16
]}

Margotti, Marzia ^{[16
]}

Brunetto, Maurizia ^{[18
]}

Coco, Barbara ^{[18
]}

Alvaro, Domenico ^{[19
]}

Bragazzi, Maria C. ^{[19
]}

Marra, Fabio ^{[20
]}

Pisano, Alessandro ^{[20
]}

Rigamonti, Cristina ^{[5
]}

Colombo, Massimo ^{[5
]}

Marzioni, Marco ^{[21
]}

Benedetti, Antonio ^{[21
]}

Fabris, Luca ^{[14
]}

Strazzabosco, Mario ^{[22
,23
]}

Portincasa, Piero ^{[24
]}

Palmieri, Vincenzo O. ^{[24
]}

Tiribelli, Claudio ^{[25
]}

Croce, Lory ^{[25
]}

Bruno, Savino ^{[26
]}

机构：

[1] Univ Calif Davis, Davis, CA 95616 USA

[2] Univ Hlth Network, Toronto, ON, Canada

[3] IRCCS, Ist Clin Humanitas, Rozzano, Italy

[4] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

[5] Univ Milan, Milan, Italy

[6] Univ Calif Irvine, Irvine, CA USA

[7] Ist Sci San Raffaele, I-20132 Milan, Italy

[8] N Shore Long Isl Jewish Hlth Syst, Feinstein Inst Med Res, Manhasset, NY USA

[9] Univ Alberta, Edmonton, AB, Canada

[10] Univ Calgary, Calgary, AB, Canada

[11] Dalhousie Univ, Halifax, NS, Canada

[12] London Hlth Sci Ctr, London, ON, Canada

[13] Gradenigo Hosp, Turin, Italy

[14] Univ Padua, Padua, Italy

[15] Casa Sollievo della Sofferenza Hosp, San Giovanni Rotondo, Italy

[16] Univ Bologna, Bologna, Italy

[17] Univ Palermo, Palermo, Italy

[18] Azienda Osped Univ Pisana, Pisa, Italy

[19] Univ Sapienza Rome, Rome, Italy

[20] Univ Florence, Florence, Italy

[21] Univ Politecn Marche, Ancona, Italy

[22] Yale Univ, New Haven, CT USA

[23] Univ Milano Bicocca, Monza, Italy

[24] Univ Bari, Bari, Italy

[25] Univ Trieste, Trieste, Italy

[26] Osped Fatebene Fratelli & Oftalm, Milan, Italy

[27] Osped Maggiore Niguarda, Milan, Italy

[28] Santa Croce Carle Hosp, Cuneo, Italy

[29] Univ Udine, I-33100 Udine, Italy

[30] Univ Genoa, Genoa, Italy

[31] Univ Parma, Azienda Osped, I-43100 Parma, Italy

[32] Treviglio Hosp, Treviglio, Italy

[33] Desio Hosp, Desio, Italy

[34] Magenta Hosp, Magenta, Italy

[35] Univ Naples Federico 2, Naples, Italy

[36] AO Lecco, Dept Internal Med, Lecce, Italy

[37] AO Valduce, Corno, Italy

[38] Osped Negrar, Verona, Italy

[39] Univ Toronto, Toronto, ON, Canada

[40] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada

来源：

NATURE GENETICS | 2010年 / 42卷 / 08期

基金：

美国国家卫生研究院;

关键词：

SYSTEMIC-LUPUS-ERYTHEMATOSUS; SPI-B; CELL; VARIANTS; RISK; TRANSCRIPTION; EXPRESSION; ASTHMA;

D O I：

10.1038/ng.627

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 x 10(-10), OR = 1.63) and 17q12-21 (P = 1.7 x 10(-10), OR = 1.38).

引用

页码：658 / 660

页数：3

共 15 条

[1]

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes [J].

Barrett, Jeffrey C. ;

Clayton, David G. ;

Concannon, Patrick ;

Akolkar, Beena ;

Cooper, Jason D. ;

Erlich, Henry A. ;

Julier, Cecile ;

Morahan, Grant ;

Nerup, Jorn ;

Nierras, Concepcion ;

Plagnol, Vincent ;

Pociot, Flemming ;

Schuilenburg, Helen ;

Smyth, Deborah J. ;

Stevens, Helen ;

Todd, John A. ;

Walker, Neil M. ;

Rich, Stephen S. .

NATURE GENETICS, 2009, 41 (06) :703-707

[2]

Delta-like1-induced Notch1 signaling regulates the human plasmacytoid dendritic cell versus T-cell lineage decision through control of GATA-3 and Spi-B [J].

Dontje, W ;

Schotte, R ;

Cupedo, T ;

Nagasawa, M ;

Scheeren, F ;

Gimeno, R ;

Spits, H ;

Blom, B .

BLOOD, 2006, 107 (06) :2446-2452

[3]

PU.1 and Spi-B are required for normal B cell receptor-mediated signal transduction [J].

Garrett-Sinha, LA ;

Su, GH ;

Rao, S ;

Kabak, S ;

Hao, ZP ;

Clark, MR ;

Simon, MC .

IMMUNITY, 1999, 10 (04) :399-408

[4]

The causes of primary biliary cirrhosis: Convenient and inconvenient truths [J].

Gershwin, M. Eric ;

Mackay, Ian R. .

HEPATOLOGY, 2008, 47 (02) :737-745

[5]

Rho GTPase Cdc42 is essential for B-lymphocyte development and activation [J].

Guo, Fukun ;

Velu, Chinavenmeni S. ;

Grimes, H. Leighton ;

Zheng, Yi .

BLOOD, 2009, 114 (14) :2909-2916

[6]

Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants [J].

Hirschfield, Gideon M. ;

Liu, Xiangdong ;

Xu, Chun ;

Lu, Yue ;

Xie, Gang ;

Lu, Yan ;

Gu, Xiangjun ;

Walker, Erin J. ;

Jing, Kaiyan ;

Juran, Brian D. ;

Mason, Andrew L. ;

Myers, Robert P. ;

Peltekian, Kevork M. ;

Ghent, Cameron N. ;

Coltescu, Catalina ;

Atkinson, Elizabeth J. ;

Heathcote, E. Jenny ;

Lazaridis, Konstantinos N. ;

Amos, Christopher I. ;

Siminovitch, Katherine A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (24) :2544-2555

[7]

Human Leukocyte Antigen Polymorphisms in Italian Primary Biliary Cirrhosis: A Multicenter Study of 664 Patients and 1992 Healthy Controls [J].

Invernizzi, Pietro ;

Selmi, Carlo ;

Poli, Francesca ;

Frison, Sara ;

Floreani, Annarosa ;

Alvaro, Domenico ;

Almasio, Piero ;

Rosina, Floriano ;

Marzioni, Marco ;

Fabris, Luca ;

Muratori, Luigi ;

Qi, Lihong ;

Seldin, Michael F. ;

Gershwin, M. Eric ;

Podda, Mauro .

HEPATOLOGY, 2008, 48 (06) :1906-1912

[8]

Genome-wide association identifies multiple ulcerative colitis susceptibility loci [J].

McGovern, Dermot P. B. ;

Gardet, Agnes ;

Torkvist, Leif ;

Goyette, Philippe ;

Essers, Jonah ;

Taylor, Kent D. ;

Neale, Benjamin M. ;

Ong, Rick T. H. ;

Lagace, Caroline ;

Li, Chun ;

Green, Todd ;

Stevens, Christine R. ;

Beauchamp, Claudine ;

Fleshner, Phillip R. ;

Carlson, Marie ;

D'Amato, Mauro ;

Halfvarson, Jonas ;

Hibberd, Martin L. ;

Lordal, Mikael ;

Padyukov, Leonid ;

Andriulli, Angelo ;

Colombo, Elisabetta ;

Latiano, Anna ;

Palmieri, Orazio ;

Bernard, Edmond-Jean ;

Deslandres, Colette ;

Hommes, Daan W. ;

de Jong, Dirk J. ;

Stokkers, Pieter C. ;

Weersma, Rinse K. ;

Sharma, Yashoda ;

Silverberg, Mark S. ;

Cho, Judy H. ;

Wu, Jing ;

Roeder, Kathryn ;

Brant, Steven R. ;

Schumm, L. Phillip ;

Duerr, Richard H. ;

Dubinsky, Marla C. ;

Glazer, Nicole L. ;

Haritunians, Talin ;

Ippoliti, Andy ;

Melmed, Gil Y. ;

Siscovick, David S. ;

Vasiliauskas, Eric A. ;

Targan, Stephan R. ;

Annese, Vito ;

Wijmenga, Cisca ;

Pettersson, Sven ;

Rotter, Jerome I. .

NATURE GENETICS, 2010, 42 (04) :332-U88

[9]

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma [J].

Moffatt, Miriam F. ;

Kabesch, Michael ;

Liang, Liming ;

Dixon, Anna L. ;

Strachan, David ;

Heath, Simon ;

Depner, Martin ;

von Berg, Andrea ;

Bufe, Albrecht ;

Rietschel, Ernst ;

Heinzmann, Andrea ;

Simma, Burkard ;

Frischer, Thomas ;

Willis-Owen, Saffron A. G. ;

Wong, Kenny C. C. ;

Illig, Thomas ;

Vogelberg, Christian ;

Weiland, Stephan K. ;

von Mutius, Erika ;

Abecasis, Goncalo R. ;

Farrall, Martin ;

Gut, Ivo G. ;

Lathrop, G. Mark ;

Cookson, William O. C. .

NATURE, 2007, 448 (7152) :470-U5

[10]

Involvement of STAT-1 and Ets family members in interferon-γ induction of CD40 transcription in microglia/macrophages [J].

Nguyen, VT ;

Benveniste, EN .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (31) :23674-23684

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