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Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration
- Source :
- Journal of Hepatology, 71(3), 594-602. Elsevier, Wilman, H R, Parisinos, C A, Atabaki-Pasdar, N, Kelly, M, Thomas, E L, Neubauer, S, Jennison, C, Ehrhardt, B, Baum, P, Schoelsch, C, Freijer, J, Grempler, R, Graefe-Mody, U, Hennige, A, Dings, C, Lehr, T, Scherer, N, Sihinecich, I, Pattou, F, Raverdi, V, Caiazzo, R, Torres, F, Verkindt, H, Mari, A, Tura, A, Giorgino, T, Bizzotto, Froguel, P, Bonneford, A, Canouil, M, Dhennin, V, Brorsson, C, Brunak, S, de Masi, F, Gudmundsdóttir, V, Pedersen, H, Banasik, K, Thomas, C, Sackett, P, Staerfeldt, H-H, Lundgaard, A, Koopman, A, Rutters, F, Beulens, J, Groeneveld, L, IMI DIRECT Consortium, Koopman, A, Rutters, F, Beulens, J, Groeneveld, L, Koopman, A, Thomas, L, Whitcher, B, Mahajan, A, Hingorani, A D, Patel, R S, Hemingway, H, Franks, P W, Bell, J D, Banerjee, R & Yaghootkar, H 2019, ' Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration ', Journal of Hepatology, vol. 71, no. 3, pp. 594-602 . https://doi.org/10.1016/j.jhep.2019.05.032
- Publication Year :
- 2019
-
Abstract
- 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
Details
- Language :
- English
- ISSN :
- 01688278
- Database :
- OpenAIRE
- Journal :
- Journal of Hepatology, 71(3), 594-602. Elsevier, Wilman, H R, Parisinos, C A, Atabaki-Pasdar, N, Kelly, M, Thomas, E L, Neubauer, S, Jennison, C, Ehrhardt, B, Baum, P, Schoelsch, C, Freijer, J, Grempler, R, Graefe-Mody, U, Hennige, A, Dings, C, Lehr, T, Scherer, N, Sihinecich, I, Pattou, F, Raverdi, V, Caiazzo, R, Torres, F, Verkindt, H, Mari, A, Tura, A, Giorgino, T, Bizzotto, Froguel, P, Bonneford, A, Canouil, M, Dhennin, V, Brorsson, C, Brunak, S, de Masi, F, Gudmundsdóttir, V, Pedersen, H, Banasik, K, Thomas, C, Sackett, P, Staerfeldt, H-H, Lundgaard, A, Koopman, A, Rutters, F, Beulens, J, Groeneveld, L, IMI DIRECT Consortium, Koopman, A, Rutters, F, Beulens, J, Groeneveld, L, Koopman, A, Thomas, L, Whitcher, B, Mahajan, A, Hingorani, A D, Patel, R S, Hemingway, H, Franks, P W, Bell, J D, Banerjee, R & Yaghootkar, H 2019, ' Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration ', Journal of Hepatology, vol. 71, no. 3, pp. 594-602 . https://doi.org/10.1016/j.jhep.2019.05.032
- Accession number :
- edsair.dedup.wf.001..21d8f03cbd3e4487af956734fab22e15
- Full Text :
- https://doi.org/10.1016/j.jhep.2019.05.032