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Update on the genetics and genomics of PBC.
Juran BD, Lazaridis KN. Juran BD, et al. J Autoimmun. 2010 Nov;35(3):181-7. doi: 10.1016/j.jaut.2010.06.005. Epub 2010 Jul 16. J Autoimmun. 2010. PMID: 20638243 Free PMC article. Review.
Genetics and genomics of primary biliary cirrhosis.
Juran BD, Lazaridis KN. Juran BD, et al. Clin Liver Dis. 2008 May;12(2):349-65; ix. doi: 10.1016/j.cld.2008.02.007. Clin Liver Dis. 2008. PMID: 18456185 Free PMC article. Review.
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
Liu X, Invernizzi P, Lu Y, Kosoy R, Lu Y, Bianchi I, Podda M, Xu C, Xie G, Macciardi F, Selmi C, Lupoli S, Shigeta R, Ransom M, Lleo A, Lee AT, Mason AL, Myers RP, Peltekian KM, Ghent CN, Bernuzzi F, Zuin M, Rosina F, Borghesio E, Floreani A, Lazzari R, Niro G, Andriulli A, Muratori L, Muratori P, Almasio PL, Andreone P, Margotti M, Brunetto M, Coco B, Alvaro D, Bragazzi MC, Marra F, Pisano A, Rigamonti C, Colombo M, Marzioni M, Benedetti A, Fabris L, Strazzabosco M, Portincasa P, Palmieri VO, Tiribelli C, Croce L, Bruno S, Rossi S, Vinci M, Prisco C, Mattalia A, Toniutto P, Picciotto A, Galli A, Ferrari C, Colombo S, Casella G, Morini L, Caporaso N, Colli A, Spinzi G, Montanari R, Gregersen PK, Heathcote EJ, Hirschfield GM, Siminovitch KA, Amos CI, Gershwin ME, Seldin MF. Liu X, et al. Nat Genet. 2010 Aug;42(8):658-60. doi: 10.1038/ng.627. Epub 2010 Jul 18. Nat Genet. 2010. PMID: 20639880 Free PMC article.
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
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. Hirschfield GM, et al. Nat Genet. 2010 Aug;42(8):655-7. doi: 10.1038/ng.631. Epub 2010 Jul 18. Nat Genet. 2010. PMID: 20639879 Free PMC article.
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA. Hirschfield GM, et al. N Engl J Med. 2009 Jun 11;360(24):2544-55. doi: 10.1056/NEJMoa0810440. Epub 2009 May 20. N Engl J Med. 2009. PMID: 19458352 Free PMC article.