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FältnamnIndikatorerMetadata
00007931naa a2200769 4500
001oai:DiVA.org:uu-382821
003SwePub
008190506s2019 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3828212 URI
0247 a https://doi.org/10.1053/j.gastro.2019.01.0342 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Cirulli, Elizabeth T.u Duke Univ, Duke Ctr Appl Genom & Precis Med, Durham, NC USA4 aut
2451 0a A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury
264 1b W B SAUNDERS CO-ELSEVIER INC,c 2019
338 a print2 rdacarrier
520 a BACKGROUND & AIMS: We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility.METHODS: We performed a genome-wide association study of 2048 individuals with DILI (cases) and 12,429 individuals without (controls). Our analysis included subjects of European (1806 cases and 10,397 controls), African American (133 cases and 1,314 controls), and Hispanic (109 cases and 718 controls) ancestry. We analyzed DNA from 113 Icelandic cases and 239,304 controls to validate our findings.RESULTS: We associated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution of tryptophan with arginine in the protein tyrosine phosphatase, nonreceptor type 22 gene (PTPN22) (odds ratio [OR] 1.44; 95% confidence interval [CI] 1.28-1.62; P = 1.2 x 10(-9) and replicated the finding in the validation set (OR 1.48; 95% CI 1.09-1.99; P =.01). The minor allele frequency showed the same effect size (OR > 1) among ethnic groups. The strongest association was with amoxicillin and clavulanate-associated DILI in persons of European ancestry (OR 1.62; 95% CI 1.32-1.98; P = 4.0 x 10(-6); allele frequency = 13.3%), but the polymorphism was associated with DILI of other causes (OR 1.37; 95% CI 1.21-1.56; P = 1.5 x 10(-6); allele frequency = 11.5%). Among amoxicillin-and clavulanate-associated cases of European ancestry, rs2476601 doubled the risk for DILI among those with the HLA risk alleles A* 02: 01 and DRB1* 15: 01.CONCLUSIONS: In a genome-wide association study, we identified rs2476601 in PTPN22 as a non-HLA variant that associates with risk of liver injury caused by multiple drugs and validated our finding in a separate cohort. This variant has been associated with increased risk of autoimmune diseases, providing support for the concept that alterations in immune regulation contribute to idiosyncratic DILI.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng
653 a Amino Acid Change
653 a GWAS
653 a Mutation
653 a Inflammation
7001 a Nicoletti, Paolau Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, One Gustave Levy Pl, New York, NY 10029 USA;Sema4, Stamford, CT USA4 aut
7001 a Abramson, Karenu Duke Univ, Duke Mol Physiol Inst, Durham, NC USA4 aut
7001 a Andrade, Raul J.u Univ Malaga, Hosp Univ Virgen de la Victoria, Ctr Invest Biomed Red Enfermedades Hepat & Digest, UGC Digest,Inst Invest Biomed Malaga IBIMA, Malaga, Spain;Univ Malaga, IBIMA Hosp Univ Virgen de la Victoria, Malaga, Spain;CIBERehd, Madrid, Spain4 aut
7001 a Bjornsson, Einar S.u Landspitali Univ Hosp, Dept Internal Med, Reykjavik, Iceland4 aut
7001 a Chalasani, Nagau Indiana Univ Sch Med, Div Gastroenterol & Hepatol, Indianapolis, IN 46202 USA4 aut
7001 a Fontana, Robert J.u Univ Michigan, Ann Arbor, MI 48109 USA4 aut
7001 a Hallberg, Pär,d 1974-u Uppsala universitet,Klinisk farmakogenomik och osteoporos,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)pahal677
7001 a Li, Yi Juu Duke Univ, Duke Mol Physiol Inst, Durham, NC USA;Duke Univ, Dept Biostat & Bioinformat, Durham, NC USA4 aut
7001 a Lucena, M. Isabelu Univ Malaga, Hosp Univ Virgen de la Victoria, Ctr Invest Biomed Red Enfermedades Hepat & Digest, UGC Digest,Inst Invest Biomed Malaga IBIMA, Malaga, Spain;Univ Malaga, IBIMA Hosp Univ Virgen de la Victoria, Malaga, Spain;CIBERehd, Madrid, Spain4 aut
7001 a Long, Nanyeu Michigan State Univ, Inst Cyber Enabled Res, E Lansing, MI 48824 USA4 aut
7001 a Molokhia, Mariamu Kings Coll London, Sch Populat Hlth & Environm Sci, London, England;Kings Coll London, London, England4 aut
7001 a Nelson, Matthew R.u GSK, Target Sci, King Of Prussia, PA USA4 aut
7001 a Odin, Joseph A.u Icahn Sch Med Mt Sinai, Dept Med, New York, NY 10029 USA4 aut
7001 a Pirmohamed, Muniru Univ Liverpool, Dept Mol & Clin Pharmacol, Liverpool, Merseyside, England;Univ Liverpool, Inst Translat Med, Liverpool, Merseyside, England4 aut
7001 a Rafnar, Thorunnu deCODE Genet, IS-101 Reykjavik, Iceland4 aut
7001 a Serrano, Joseu NIDDK, Bethesda, MD 20892 USA4 aut
7001 a Stefansson, Kariu deCODE Genet, IS-101 Reykjavik, Iceland4 aut
7001 a Stolz, Andrewu Univ Southern Calif, Los Angeles, CA USA4 aut
7001 a Daly, Ann K.u Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England4 aut
7001 a Aithal, Guruprasad P.u Nottingham Univ Hosp NHS Trust, Nottingham Digest Dis Ctr, Nottingham, England;Nottingham Univ Hosp NHS Trust, Natl Inst Hlth Res, Nottingham Biomed Res Ctr, Nottingham, England;Univ Nottingham, Nottingham, England;Nottingham Univ Hosp NHS Trust, Nottingham Digest Dis Biomed Res Unit, Natl Inst Hlth Res, Nottingham, England4 aut
7001 a Watkins, Paul B.u Univ N Carolina, UNC Eshelman Sch Pharm, Chapel Hill, NC 27515 USA;Univ N Carolina, Inst Drug Safety Sci, Res Triangle Pk, NC USA4 aut
7001 a Bessone, Fernandou Univ Nacl Rosario, Rosario, Santa Fe, Argentina4 aut
7001 a Bjornsson, Einaru Natl Univ Hosp Iceland, Dept Internal Med, Div Gastroenterol & Hepatol, Reykjavik, Iceland4 aut
7001 a Cascorbi, Ingolfu Univ Hosp Schleswig Holstein, Inst Expt & Clin Pharmacol, Kiel, Germany4 aut
7001 a Dillon, John F.u Ninewells Hosp & Med Sch, Dundee, Scotland4 aut
7001 a Day, Christopher P.u Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England4 aut
7001 a Hernandez, Neliau Univ Republica, Montevideo, Uruguay4 aut
7001 a Ibanez, Luisau Hosp Univ Vall dHebron, Barcelona, Spain4 aut
7001 a Kullak-Ublic, Gerd A.u Univ Zurich, Zurich, Switzerland4 aut
7001 a Laitinen, Tarjau Univ Helsinki, Cent Hosp, Helsinki, Finland4 aut
7001 a Larrey, Dominiqueu Hop St Eloi, Montpellier, France4 aut
7001 a Maitland-van der Zee, Ankeu AMC, Amsterdam, Netherlands4 aut
7001 a Martin, Jennifer H.u Univ Newcastle, Newcastle, NSW, Australia4 aut
7001 a Menzies, Dicku MUHC, Montreal, PQ, Canada;McGill Univ, Montreal Chest Inst, Montreal, PQ, Canada4 aut
7001 a Qin, Shengyingu Shanghai Jiao Tong Univ, Shanghai, Peoples R China4 aut
7001 a Wadelius, Miau Uppsala universitet,Klinisk farmakogenomik och osteoporos4 aut0 (Swepub:uu)miawadel
7102 a Duke Univ, Duke Ctr Appl Genom & Precis Med, Durham, NC USAb Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, One Gustave Levy Pl, New York, NY 10029 USA;Sema4, Stamford, CT USA4 org
7730 t Gastroenterologyd : W B SAUNDERS CO-ELSEVIER INCg 156:6, s. 1707-1716q 156:6<1707-1716x 0016-5085x 1528-0012
8564 u https://helda.helsinki.fi/bitstream/10138/315584/1/1_s2.0_S0016508519300940_main.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-382821
8564 8u https://doi.org/10.1053/j.gastro.2019.01.034

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