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Sökning: onr:"swepub:oai:DiVA.org:uu-303900" > Trans-ethnic Fine M...

Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity

Mahajan, Anubha (författare)
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Rodan, Aylin R. (författare)
Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA
Le, Thu H. (författare)
Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA
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Gaulton, Kyle J. (författare)
Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA
Haessler, Jeffrey (författare)
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Stilp, Adrienne M. (författare)
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
Kamatani, Yoichiro (författare)
Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan
Zhu, Gu (författare)
Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia
Sofer, Tamar (författare)
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
Puri, Sanjana (författare)
Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA
Schellinger, Jeffrey N. (författare)
Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med, Dallas, TX 75229 USA
Chu, Pei-Lun (författare)
Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA
Cechova, Sylvia (författare)
Department of Medicine, University of Virginia, Charlottesville, VA 22908, USA
van Zuydam, Natalie (författare)
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
Ärnlöv, Johan (författare)
Högskolan Dalarna,Uppsala universitet,Kardiovaskulär epidemiologi,School of Health and Social Studies, Dalarna University, Falun 791 88, Sweden,Medicinsk vetenskap,Uppsala university
Flessner, Michael F. (författare)
National Institute of Diabetes, Digestive, and Kidney Disease, NIH, Bethesda, MD 20892, USA
Giedraitis, Vilmantas (författare)
Uppsala universitet,Geriatrik
Heath, Andrew C. (författare)
Department of Psychiatry, Washington University in St. Louis, St. Louis, MO 63110, USA
Kubo, Michiaki (författare)
Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan
Larsson, Anders (författare)
Uppsala universitet,Biokemisk struktur och funktion
Lindgren, Cecilia M. (författare)
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, UK
Madden, Pamela A. F. (författare)
Department of Psychiatry, Washington University in St. Louis, St. Louis, MO 63110, USA
Montgomery, Grant W. (författare)
Molecular Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia
Papanicolaou, George J. (författare)
Epidemiology Branch, Division of Cardiovascular Sciences, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA
Reiner, Alex P. (författare)
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Sundström, Johan (författare)
Uppsala universitet,Kardiovaskulär epidemiologi
Thornton, Timothy A. (författare)
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
Lind, Lars (författare)
Uppsala universitet,Kardiovaskulär epidemiologi
Ingelsson, Erik (författare)
Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
Cai, Jianwen (författare)
Collaborative Studies Coordinating Center, Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
Martin, Nicholas G. (författare)
Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia
Kooperberg, Charles (författare)
Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
Matsuda, Koichi (författare)
Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo 108-8639, Japan
Whitfield, John B. (författare)
Genetic Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia
Okada, Yukinori (författare)
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, Japan
Laurie, Cathy C. (författare)
Department of Biostatistics, University of Washington, Seattle, WA 98195, USA
Morris, Andrew P. (författare)
Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England; Department of Biostatistics, University of Liverpool, Liverpool L69 3GL, UK
Franceschini, Nora (författare)
Department of Epidemiology, University of North Carolina, Chapel Hill, NC 27514, USA
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 (creator_code:org_t)
Elsevier BV, 2016
2016
Engelska.
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 99:3, s. 636-646
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

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