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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00009032naa a2200841 4500
001oai:DiVA.org:uu-303900
003SwePub
008160926s2016 | |||||||||||000 ||eng|
009oai:DiVA.org:du-23051
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3039002 URI
0247 a https://doi.org/10.1016/j.ajhg.2016.07.0122 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:du-230512 URI
040 a (SwePub)uud (SwePub)du
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Mahajan, Anubhau Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England4 aut
2451 0a Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
264 1b Elsevier BV,c 2016
338 a electronic2 rdacarrier
520 a We analyzed genome-wide association studies (GWASs), including data from 71,638 individuals from four ancestries, for estimated glomerular filtration rate (eGFR), a measure of kidney function used to define chronic kidney disease (CKD). We identified 20 loci attaining genome-wide-significant evidence of association (p < 5 × 10(-8)) with kidney function and highlighted that allelic effects on eGFR at lead SNPs are homogeneous across ancestries. We leveraged differences in the pattern of linkage disequilibrium between diverse populations to fine-map the 20 loci through construction of "credible sets" of variants driving eGFR association signals. Credible variants at the 20 eGFR loci were enriched for DNase I hypersensitivity sites (DHSs) in human kidney cells. DHS credible variants were expression quantitative trait loci for NFATC1 and RGS14 (at the SLC34A1 locus) in multiple tissues. Loss-of-function mutations in ancestral orthologs of both genes in Drosophila melanogaster were associated with altered sensitivity to salt stress. Renal mRNA expression of Nfatc1 and Rgs14 in a salt-sensitive mouse model was also reduced after exposure to a high-salt diet or induced CKD. Our study (1) demonstrates the utility of trans-ethnic fine mapping through integration of GWASs involving diverse populations with genomic annotation from relevant tissues to define molecular mechanisms by which association signals exert their effect and (2) suggests that salt sensitivity might be an important marker for biological processes that affect kidney function and CKD in humans.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng
653 a Hälsa och välfärd
7001 a Rodan, Aylin R.u Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA4 aut
7001 a Le, Thu H.u Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA4 aut
7001 a Gaulton, Kyle J.u Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA4 aut
7001 a Haessler, Jeffreyu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA4 aut
7001 a Stilp, Adrienne M.u Department of Biostatistics, University of Washington, Seattle, WA 98195, USA4 aut
7001 a Kamatani, Yoichirou Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan4 aut
7001 a Zhu, Guu Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia4 aut
7001 a Sofer, Tamaru Department of Biostatistics, University of Washington, Seattle, WA 98195, USA4 aut
7001 a Puri, Sanjanau Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA4 aut
7001 a Schellinger, Jeffrey N.u Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA4 aut
7001 a Chu, Pei-Lunu Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA4 aut
7001 a Cechova, Sylviau Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA4 aut
7001 a van Zuydam, Natalieu Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England4 aut
7001 a Ärnlöv, Johanu Högskolan Dalarna,Uppsala universitet,Kardiovaskulär epidemiologi,School of Health and Social Studies, Dalarna University, Falun 791 88, Sweden,Medicinsk vetenskap,Uppsala university4 aut0 (Swepub:du)jan
7001 a Flessner, Michael F.u National Institute of Diabetes, Digestive, and Kidney Disease, NIH, Bethesda, MD 20892, USA4 aut
7001 a Giedraitis, Vilmantasu Uppsala universitet,Geriatrik4 aut0 (Swepub:uu)vigie517
7001 a Heath, Andrew C.u Department of Psychiatry, Washington University in St. Louis, St. Louis, MO 63110, USA4 aut
7001 a Kubo, Michiakiu Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan4 aut
7001 a Larsson, Andersu Uppsala universitet,Biokemisk struktur och funktion4 aut0 (Swepub:uu)andla606
7001 a Lindgren, Cecilia M.u Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7BN, UK4 aut
7001 a Madden, Pamela A. F.u Department of Psychiatry, Washington University in St. Louis, St. Louis, MO 63110, USA4 aut
7001 a Montgomery, Grant W.u Molecular Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia4 aut
7001 a Papanicolaou, George J.u Epidemiology Branch, Division of Cardiovascular Sciences, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA4 aut
7001 a Reiner, Alex P.u Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA4 aut
7001 a Sundström, Johanu Uppsala universitet,Kardiovaskulär epidemiologi4 aut0 (Swepub:uu)johasund
7001 a Thornton, Timothy A.u Department of Biostatistics, University of Washington, Seattle, WA 98195, USA4 aut
7001 a Lind, Larsu Uppsala universitet,Kardiovaskulär epidemiologi4 aut0 (Swepub:uu)larslind
7001 a Ingelsson, Eriku Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA4 aut0 (Swepub:uu)ering425
7001 a Cai, Jianwenu Collaborative Studies Coordinating Center, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA4 aut
7001 a Martin, Nicholas G.u Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia4 aut
7001 a Kooperberg, Charlesu Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA4 aut
7001 a Matsuda, Koichiu Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 108-8639, Japan4 aut
7001 a Whitfield, John B.u Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia4 aut
7001 a Okada, Yukinoriu Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan4 aut
7001 a Laurie, Cathy C.u Department of Biostatistics, University of Washington, Seattle, WA 98195, USA4 aut
7001 a Morris, Andrew P.u Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England; Department of Biostatistics, University of Liverpool, Liverpool L69 3GL, UK4 aut
7001 a Franceschini, Norau Department of Epidemiology, University of North Carolina, Chapel Hill, NC 27514, USA4 aut
7102 a Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, Englandb Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA4 org
7730 t American Journal of Human Geneticsd : Elsevier BVg 99:3, s. 636-646q 99:3<636-646x 0002-9297x 1537-6605
8564 u https://uu.diva-portal.org/smash/get/diva2:974526/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u http://www.cell.com/article/S0002929716302865/pdf
8564 u https://doi.org/10.1016/j.ajhg.2016.07.012y Fulltext
8564 u https://du.diva-portal.org/smash/get/diva2:967438/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-303900
8564 8u https://doi.org/10.1016/j.ajhg.2016.07.012
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:du-23051

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