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Page 1
Pathway-based analysis of primary biliary cirrhosis genome-wide association studies.
Kar SP, Seldin MF, Chen W, Lu E, Hirschfield GM, Invernizzi P, Heathcote J, Cusi D; Italian PBC Genetics Study Group; Gershwin ME, Siminovitch KA, Amos CI. Kar SP, et al. Genes Immun. 2013 Apr;14(3):179-86. doi: 10.1038/gene.2013.1. Epub 2013 Feb 7. Genes Immun. 2013. PMID: 23392275 Free PMC article.
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Cordell HJ, Han Y, Mells GF, Li Y, Hirschfield GM, Greene CS, Xie G, Juran BD, Zhu D, Qian DC, Floyd JA, Morley KI, Prati D, Lleo A, Cusi D; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium; Gershwin ME, Anderson CA, Lazaridis KN, Invernizzi P, Seldin MF, Sandford RN, Amos CI, Siminovitch KA. Cordell HJ, et al. Nat Commun. 2015 Sep 22;6:8019. doi: 10.1038/ncomms9019. Nat Commun. 2015. PMID: 26394269 Free PMC article.
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
Juran BD, Hirschfield GM, Invernizzi P, Atkinson EJ, Li Y, Xie G, Kosoy R, Ransom M, Sun Y, Bianchi I, Schlicht EM, Lleo A, Coltescu C, Bernuzzi F, Podda M, Lammert C, Shigeta R, Chan LL, Balschun T, Marconi M, Cusi D, Heathcote EJ, Mason AL, Myers RP, Milkiewicz P, Odin JA, Luketic VA, Bacon BR, Bodenheimer HC Jr, Liakina V, Vincent C, Levy C, Franke A, Gregersen PK, Bossa F, Gershwin ME, deAndrade M, Amos CI; Italian PBC Genetics Study Group; Lazaridis KN, Seldin MF, Siminovitch KA. Juran BD, et al. Hum Mol Genet. 2012 Dec 1;21(23):5209-21. doi: 10.1093/hmg/dds359. Epub 2012 Aug 29. Hum Mol Genet. 2012. PMID: 22936693 Free PMC article.
Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.
Hirschfield GM, Xie G, Lu E, Sun Y, Juran BD, Chellappa V, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Bacon B, Bodenheimer H, Liakina V, Vincent C, Levy C, Pillai S, Lazaridis KN, Amos CI, Siminovitch KA. Hirschfield GM, et al. Genes Immun. 2012 Jun;13(4):328-35. doi: 10.1038/gene.2011.89. Epub 2012 Jan 19. Genes Immun. 2012. PMID: 22257840 Free PMC article.
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry; Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry; Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM. Kottyan LC, et al. Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8. Hum Mol Genet. 2015. PMID: 25205108 Free PMC article.