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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11963naa a2202401 4500 | |
| 001 | oai:DiVA.org:kth-262512 | |
| 003 | SwePub | |
| 008 | 191029s2019 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:61d10647-2504-43f7-91ab-9010f171cb62 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-2625122 URI |
| 024 | 7 | a https://doi.org/10.1016/j.jhep.2019.05.0322 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/61d10647-2504-43f7-91ab-9010f171cb622 URI |
| 040 | a (SwePub)kthd (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Wilman, H. R.u Perspectum Diagnostics Ltd,University of Westminster4 aut |
| 245 | 1 0 | a Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration |
| 264 | 1 | b Elsevier,c 2019 |
| 338 | a print2 rdacarrier | |
| 500 | a QC 20191128 | |
| 520 | a Background & Aims: Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases. Methods: First, we performed a genome-wide association study (GWAS) in 8,289 individuals from UK Biobank, whose liver iron level had been quantified by magnetic resonance imaging, before validating our findings in an independent cohort (n = 1,513 from IMI DIRECT). Second, we used Mendelian randomisation to test the causal effects of 25 predominantly metabolic traits on liver iron content. Third, we tested phenome-wide associations between liver iron variants and 770 traits and disease outcomes. Results: We identified 3 independent genetic variants (rs1800562 [C282Y] and rs1799945 [H63D] in HFE and rs855791 [V736A] in TMPRSS6) associated with liver iron content that reached the GWAS significance threshold (p <5 × 10−8). The 2 HFE variants account for ∼85% of all cases of hereditary haemochromatosis. Mendelian randomisation analysis provided evidence that higher central obesity plays a causal role in increased liver iron content. Phenome-wide association analysis demonstrated shared aetiopathogenic mechanisms for elevated liver iron, high blood pressure, cirrhosis, malignancies, neuropsychiatric and rheumatological conditions, while also highlighting inverse associations with anaemias, lipidaemias and ischaemic heart disease. Conclusion: Our study provides genetic evidence that mechanisms underlying higher liver iron content are likely systemic rather than organ specific, that higher central obesity is causally associated with higher liver iron, and that liver iron shares common aetiology with multiple metabolic and non-metabolic diseases. Lay summary: Excess liver iron content is common and is associated with liver diseases and metabolic diseases including diabetes, high blood pressure, and heart disease. We identified 3 genetic variants that are linked to an increased risk of developing higher liver iron content. We show that the same genetic variants are linked to higher risk of many diseases, but they may also be associated with some health advantages. Finally, we use genetic variants associated with waist-to-hip ratio as a tool to show that central obesity is causally associated with increased liver iron content. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng |
| 653 | a Genetics | |
| 653 | a Genome-wide association study | |
| 653 | a Iron | |
| 653 | a Magnetic resonance imaging | |
| 653 | a Metabolic syndrome | |
| 653 | a Metabolism | |
| 653 | a Genetics | |
| 653 | a Genome-wide association study | |
| 653 | a Iron | |
| 653 | a Magnetic resonance imaging | |
| 653 | a Metabolic syndrome | |
| 653 | a Metabolism | |
| 700 | 1 | a Parisinos, C. A.4 aut |
| 700 | 1 | a Atabaki Pasdar, Naeimehu Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Skåne University Hospital,Boehringer Ingelheim GmbH4 aut0 (Swepub:lu)med-nha |
| 700 | 1 | a Kelly, M.4 aut |
| 700 | 1 | a Thomas, E. L.4 aut |
| 700 | 1 | a Neubauer, S.4 aut |
| 700 | 1 | a Jennison, C.4 aut |
| 700 | 1 | a Ehrhardt, B.4 aut |
| 700 | 1 | a Baum, P.4 aut |
| 700 | 1 | a Schoelsch, C.4 aut |
| 700 | 1 | a Freijer, J.4 aut |
| 700 | 1 | a Grempler, R.4 aut |
| 700 | 1 | a Graefe-Mody, U.4 aut |
| 700 | 1 | a Hennige, A.4 aut |
| 700 | 1 | a Dings, C.4 aut |
| 700 | 1 | a Lehr, T.4 aut |
| 700 | 1 | a Scherer, N.4 aut |
| 700 | 1 | a Sihinecich, I.4 aut |
| 700 | 1 | a Pattou, F.4 aut |
| 700 | 1 | a Raverdi, V.4 aut |
| 700 | 1 | a Caiazzo, R.4 aut |
| 700 | 1 | a Torres, F.4 aut |
| 700 | 1 | a Verkindt, H.4 aut |
| 700 | 1 | a Mari, A.4 aut |
| 700 | 1 | a Tura, A.4 aut |
| 700 | 1 | a Giorgino, T.4 aut |
| 700 | 1 | a Froguel, P.4 aut |
| 700 | 1 | a Bonneford, A.4 aut |
| 700 | 1 | a Canouil, M.4 aut |
| 700 | 1 | a Dhennin, V.4 aut |
| 700 | 1 | a Brorsson, C.4 aut |
| 700 | 1 | a Brunak, S.4 aut |
| 700 | 1 | a De Masi, F.4 aut |
| 700 | 1 | a Gudmundsdóttir, V.4 aut |
| 700 | 1 | a Pedersen, H.4 aut |
| 700 | 1 | a Banasik, K.4 aut |
| 700 | 1 | a Thomas, C.4 aut |
| 700 | 1 | a Sackett, P.4 aut |
| 700 | 1 | a Staerfeldt, H. -H4 aut |
| 700 | 1 | a Lundgaard, A.4 aut |
| 700 | 1 | a Nilsson, B.4 aut |
| 700 | 1 | a Nielsen, A.4 aut |
| 700 | 1 | a Mazzoni, G.4 aut |
| 700 | 1 | a Karaderi, T.4 aut |
| 700 | 1 | a Rasmussen, S.4 aut |
| 700 | 1 | a Johansen, J.4 aut |
| 700 | 1 | a Allesøe, R.4 aut |
| 700 | 1 | a Fritsche, A.4 aut |
| 700 | 1 | a Thorand, B.4 aut |
| 700 | 1 | a Adamski, J.4 aut |
| 700 | 1 | a Grallert, H.4 aut |
| 700 | 1 | a Haid, M.4 aut |
| 700 | 1 | a Sharma, S.4 aut |
| 700 | 1 | a Troll, M.4 aut |
| 700 | 1 | a Adam, J.4 aut |
| 700 | 1 | a Ferrer, J.4 aut |
| 700 | 1 | a Eriksen, H.4 aut |
| 700 | 1 | a Frost, G.4 aut |
| 700 | 1 | a Häussler, Ragna S.u KTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:kth)u1izv3pd |
| 700 | 1 | a Hong, Mun-Gwanu KTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:kth)u19gmsru |
| 700 | 1 | a Schwenk, Jochen M.u KTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:kth)u1h7wtme |
| 700 | 1 | a Uhlén, Mathiasu KTH,Affinitets-proteomik,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:kth)u1dulvmw |
| 700 | 1 | a Nicolay, C.4 aut |
| 700 | 1 | a Pavo, I.4 aut |
| 700 | 1 | a Steckel-Hamann, B.4 aut |
| 700 | 1 | a Thomas, M.4 aut |
| 700 | 1 | a Adragni, K.4 aut |
| 700 | 1 | a Wu, H.4 aut |
| 700 | 1 | a Hart, L.4 aut |
| 700 | 1 | a Roderick, S.4 aut |
| 700 | 1 | a van Leeuwen, N.4 aut |
| 700 | 1 | a Dekkers, K.4 aut |
| 700 | 1 | a Frau, F.4 aut |
| 700 | 1 | a Gassenhuber, J.4 aut |
| 700 | 1 | a Jablonka, B.4 aut |
| 700 | 1 | a Musholt, P.4 aut |
| 700 | 1 | a Ruetten, H.4 aut |
| 700 | 1 | a Tillner, J.4 aut |
| 700 | 1 | a Baltauss, T.4 aut |
| 700 | 1 | a Bernard Poenaru, O.4 aut |
| 700 | 1 | a de Preville, N.4 aut |
| 700 | 1 | a Rodriquez, M.4 aut |
| 700 | 1 | a Arumugam, M.4 aut |
| 700 | 1 | a Allin, K.4 aut |
| 700 | 1 | a Engelbrechtsen, L.4 aut |
| 700 | 1 | a Hansen, T.4 aut |
| 700 | 1 | a Forman, A.4 aut |
| 700 | 1 | a Jonsson, A.4 aut |
| 700 | 1 | a Pedersen, O.4 aut |
| 700 | 1 | a Dutta, A.4 aut |
| 700 | 1 | a Vogt, J.4 aut |
| 700 | 1 | a Vestergaard, H.4 aut |
| 700 | 1 | a Laakso, M.4 aut |
| 700 | 1 | a Kokkola, T.4 aut |
| 700 | 1 | a Kuulasmaa, T.4 aut |
| 700 | 1 | a Franks, Paulu Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-plf |
| 700 | 1 | a Giordano, N.4 aut |
| 700 | 1 | a Pomares-Millan, Hugou Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)hu7454po |
| 700 | 1 | a Fitipaldi, Hugou Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Ortopedi - klinisk och molekylär osteoporosforskning,Genetic and Molecular Epidemiology,Lund University Research Groups,Orthopedics - Clinical and Molecular Osteoporosis Research,Skåne University Hospital4 aut0 (Swepub:lu)hu3745fi |
| 700 | 1 | a Mutie, Pascalu Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)pa4264mu |
| 700 | 1 | a Klintenberg, Mariau Skåne University Hospital4 aut0 (Swepub:lu)med-mk1 |
| 700 | 1 | a Bergstrom, M.4 aut |
| 700 | 1 | a Groop, L.4 aut |
| 700 | 1 | a Ridderstrale, M.4 aut |
| 700 | 1 | a Atabaki Pasdar, N.4 aut |
| 700 | 1 | a Deshmukh, H.4 aut |
| 700 | 1 | a Heggie, A.4 aut |
| 700 | 1 | a Wake, D.4 aut |
| 700 | 1 | a McEvoy, D.4 aut |
| 700 | 1 | a McVittie, I.4 aut |
| 700 | 1 | a Walker, M.4 aut |
| 700 | 1 | a Hattersley, A.4 aut |
| 700 | 1 | a Hill, A.4 aut |
| 700 | 1 | a Jones, A.4 aut |
| 700 | 1 | a McDonald, T.4 aut |
| 700 | 1 | a Perry, M.4 aut |
| 700 | 1 | a Nice, R.4 aut |
| 700 | 1 | a Hudson, M.4 aut |
| 700 | 1 | a Thorne, C.4 aut |
| 700 | 1 | a Dermitzakis, E.4 aut |
| 700 | 1 | a Viñuela, A.4 aut |
| 700 | 1 | a Cabrelli, L.4 aut |
| 700 | 1 | a Loftus, H.4 aut |
| 700 | 1 | a Dawed, A.4 aut |
| 700 | 1 | a Donnelly, L.4 aut |
| 700 | 1 | a Forgie, I.4 aut |
| 700 | 1 | a Pearson, E.4 aut |
| 700 | 1 | a Palmer, C.4 aut |
| 700 | 1 | a Brown, A.4 aut |
| 700 | 1 | a Koivula, R.4 aut |
| 700 | 1 | a Wesolowska-Andersen, A.4 aut |
| 700 | 1 | a Abdalla, M.4 aut |
| 700 | 1 | a McRobert, N.4 aut |
| 700 | 1 | a Fernandez, J.4 aut |
| 700 | 1 | a Jiao, Y.4 aut |
| 700 | 1 | a Robertson, N.4 aut |
| 700 | 1 | a Gough, S.4 aut |
| 700 | 1 | a Kaye, J.4 aut |
| 700 | 1 | a Mourby, M.4 aut |
| 700 | 1 | a Mahajan, A.4 aut |
| 700 | 1 | a McCarthy, M.4 aut |
| 700 | 1 | a Shah, N.4 aut |
| 700 | 1 | a Teare, H.4 aut |
| 700 | 1 | a Holl, R.4 aut |
| 700 | 1 | a Koopman, A.4 aut |
| 700 | 1 | a Rutters, F.4 aut |
| 700 | 1 | a Beulens, J.4 aut |
| 700 | 1 | a Groeneveld, L.4 aut |
| 700 | 1 | a Bell, J.4 aut |
| 700 | 1 | a Thomas, L.4 aut |
| 700 | 1 | a Whitcher, B.4 aut |
| 700 | 1 | a Hingorani, A. D.4 aut |
| 700 | 1 | a Patel, R. S.4 aut |
| 700 | 1 | a Hemingway, H.4 aut |
| 700 | 1 | a Franks, P. W.4 aut |
| 700 | 1 | a Bell, J. D.4 aut |
| 700 | 1 | a Banerjee, R.4 aut |
| 700 | 1 | a Yaghootkar, H.u University of Westminster,University of Exeter4 aut |
| 700 | 1 | a Giordano, Giuseppeu Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-geg |
| 710 | 2 | a Perspectum Diagnostics Ltdb University of Westminster4 org |
| 773 | 0 | t Journal of Hepatologyd : Elsevierg 71:3, s. 594-602q 71:3<594-602x 0168-8278x 1600-0641 |
| 856 | 4 | u http://www.journal-of-hepatology.eu/article/S0168827819303538/pdf |
| 856 | 4 | u https://www.scopus.com/inward/record.uri?eid=2-s2.0-85068854139&doi=10.1016%2fj.jhep.2019.05.032&partnerID=40&md5=6a589d89b2a35b38fccec18c2c5c6c4by FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1016/j.jhep.2019.05.032x freey FULLTEXT |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-262512 |
| 856 | 4 8 | u https://doi.org/10.1016/j.jhep.2019.05.032 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/61d10647-2504-43f7-91ab-9010f171cb62 |
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- Giorgino, T.
- Froguel, P.
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- Pedersen, H.
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- Thomas, C.
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- Frau, F.
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- Musholt, P.
- Ruetten, H.
- Tillner, J.
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- de Preville, N.
- Rodriquez, M.
- Arumugam, M.
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- Hansen, T.
- Forman, A.
- Jonsson, A.
- Pedersen, O.
- Dutta, A.
- Vogt, J.
- Vestergaard, H.
- Laakso, M.
- Kokkola, T.
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- Franks, Paul
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- Groop, L.
- Ridderstrale, M.
- Atabaki Pasdar, ...
- Deshmukh, H.
- Heggie, A.
- Wake, D.
- McEvoy, D.
- McVittie, I.
- Walker, M.
- Hattersley, A.
- Hill, A.
- Jones, A.
- McDonald, T.
- Perry, M.
- Nice, R.
- Hudson, M.
- Thorne, C.
- Dermitzakis, E.
- Viñuela, A.
- Cabrelli, L.
- Loftus, H.
- Dawed, A.
- Donnelly, L.
- Forgie, I.
- Pearson, E.
- Palmer, C.
- Brown, A.
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- Abdalla, M.
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- Fernandez, J.
- Jiao, Y.
- Robertson, N.
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- Mourby, M.
- Mahajan, A.
- McCarthy, M.
- Shah, N.
- Teare, H.
- Holl, R.
- Koopman, A.
- Rutters, F.
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