Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

Gideon M Hirschfield; Xiangdong Liu; Younghun Han; Ivan P Gorlov; Yan Lu; Chun Xu; Yue Lu; Wei Chen; Brian D Juran; Catalina Coltescu; Andrew L Mason; Piotr Milkiewicz; Robert P Myers; Joseph A Odin; Velimir A Luketic; Danute Speiciene; Catherine Vincent; Cynthia Levy; Peter K Gregersen; Jinyi Zhang; E Jenny Heathcote; Konstantinos N Lazaridis; Christopher I Amos; Katherine A Siminovitch

doi:10.1038/ng.631

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

Gideon M Hirschfield
, Xiangdong Liu
, Younghun Han
, Ivan P Gorlov
, Yan Lu
, Chun Xu
, Yue Lu
, Wei Chen
, Brian D Juran
, Catalina Coltescu
, Andrew L Mason
, Piotr Milkiewicz
, Robert P Myers
, Joseph A Odin
, Velimir A Luketic
, Danute Speiciene
, Catherine Vincent
, Cynthia Levy
, Peter K Gregersen
, Jinyi Zhang

E Jenny Heathcote, Konstantinos N Lazaridis, Christopher I Amos, Katherine A Siminovitch

Immunology and Immunotherapy

Research output: Contribution to journal › Article › peer-review

169 Citations (Scopus)

Abstract

We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P <1 x 10(-4)) identified in a previous genome-wide association study. Combined analysis of the genome-wide association and replication datasets identified IRF5-TNPO3 (combined P = 8.66 x 10(-13)), 17q12-21 (combined P = 3.50 x 10(-13)) and MMEL1 (combined P = 3.15 x 10(-8)) as new primary biliary cirrhosis susceptibility loci. Fine-mapping studies showed that a single variant accounts for the IRF5-TNPO3 association. As these loci are implicated in other autoimmune conditions, these findings confirm genetic overlap among such diseases.

Original language	English
Pages (from-to)	655-7
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	8
DOIs	https://doi.org/10.1038/ng.631
Publication status	Published - 2010

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Hirschfield, G. M., Liu, X., Han, Y., Gorlov, I. P., Lu, Y., Xu, C., Lu, Y., Chen, W., Juran, B. D., Coltescu, C., Mason, A. L., Milkiewicz, P., Myers, R. P., Odin, J. A., Luketic, V. A., Speiciene, D., Vincent, C., Levy, C., Gregersen, P. K., ... Siminovitch, K. A. (2010). Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nature Genetics, 42(8), 655-7. https://doi.org/10.1038/ng.631

@article{3de79bd4065a4661a56f540d35a47628,

title = "Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis",

abstract = "We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P <1 x 10(-4)) identified in a previous genome-wide association study. Combined analysis of the genome-wide association and replication datasets identified IRF5-TNPO3 (combined P = 8.66 x 10(-13)), 17q12-21 (combined P = 3.50 x 10(-13)) and MMEL1 (combined P = 3.15 x 10(-8)) as new primary biliary cirrhosis susceptibility loci. Fine-mapping studies showed that a single variant accounts for the IRF5-TNPO3 association. As these loci are implicated in other autoimmune conditions, these findings confirm genetic overlap among such diseases.",

author = "Hirschfield, \{Gideon M\} and Xiangdong Liu and Younghun Han and Gorlov, \{Ivan P\} and Yan Lu and Chun Xu and Yue Lu and Wei Chen and Juran, \{Brian D\} and Catalina Coltescu and Mason, \{Andrew L\} and Piotr Milkiewicz and Myers, \{Robert P\} and Odin, \{Joseph A\} and Luketic, \{Velimir A\} and Danute Speiciene and Catherine Vincent and Cynthia Levy and Gregersen, \{Peter K\} and Jinyi Zhang and Heathcote, \{E Jenny\} and Lazaridis, \{Konstantinos N\} and Amos, \{Christopher I\} and Siminovitch, \{Katherine A\}",

year = "2010",

doi = "10.1038/ng.631",

language = "English",

volume = "42",

pages = "655--7",

journal = "Nature Genetics",

issn = "1546-1718",

publisher = "Nature Publishing Group",

number = "8",

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Hirschfield, GM, Liu, X, Han, Y, Gorlov, IP, Lu, Y, Xu, C, Lu, Y, Chen, W, Juran, BD, Coltescu, C, Mason, AL, Milkiewicz, P, Myers, RP, Odin, JA, Luketic, VA, Speiciene, D, Vincent, C, Levy, C, Gregersen, PK, Zhang, J, Heathcote, EJ, Lazaridis, KN, Amos, CI & Siminovitch, KA 2010, 'Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis', Nature Genetics, vol. 42, no. 8, pp. 655-7. https://doi.org/10.1038/ng.631

TY - JOUR

T1 - Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

AU - Hirschfield, Gideon M

AU - Liu, Xiangdong

AU - Han, Younghun

AU - Gorlov, Ivan P

AU - Lu, Yan

AU - Xu, Chun

AU - Lu, Yue

AU - Chen, Wei

AU - Juran, Brian D

AU - Coltescu, Catalina

AU - Mason, Andrew L

AU - Milkiewicz, Piotr

AU - Myers, Robert P

AU - Odin, Joseph A

AU - Luketic, Velimir A

AU - Speiciene, Danute

AU - Vincent, Catherine

AU - Levy, Cynthia

AU - Gregersen, Peter K

AU - Zhang, Jinyi

AU - Heathcote, E Jenny

AU - Lazaridis, Konstantinos N

AU - Amos, Christopher I

AU - Siminovitch, Katherine A

PY - 2010

Y1 - 2010

N2 - We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P <1 x 10(-4)) identified in a previous genome-wide association study. Combined analysis of the genome-wide association and replication datasets identified IRF5-TNPO3 (combined P = 8.66 x 10(-13)), 17q12-21 (combined P = 3.50 x 10(-13)) and MMEL1 (combined P = 3.15 x 10(-8)) as new primary biliary cirrhosis susceptibility loci. Fine-mapping studies showed that a single variant accounts for the IRF5-TNPO3 association. As these loci are implicated in other autoimmune conditions, these findings confirm genetic overlap among such diseases.

AB - We genotyped individuals with primary biliary cirrhosis and unaffected controls for suggestive risk loci (genome-wide association P <1 x 10(-4)) identified in a previous genome-wide association study. Combined analysis of the genome-wide association and replication datasets identified IRF5-TNPO3 (combined P = 8.66 x 10(-13)), 17q12-21 (combined P = 3.50 x 10(-13)) and MMEL1 (combined P = 3.15 x 10(-8)) as new primary biliary cirrhosis susceptibility loci. Fine-mapping studies showed that a single variant accounts for the IRF5-TNPO3 association. As these loci are implicated in other autoimmune conditions, these findings confirm genetic overlap among such diseases.

U2 - 10.1038/ng.631

DO - 10.1038/ng.631

M3 - Article

C2 - 20639879

SN - 1546-1718

VL - 42

SP - 655

EP - 657

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis

Abstract

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