Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program
Abstract: Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a transethnic Genome-Wide Association Study of eGFR in 280,722 participants of the Million Veteran Program (MVP), with replication in 765,289 participants from the Chronic Kidney Disease Genetics (CKDGen) Consortium. We identify 82 previously unreported variants, confirm 54 loci, and report interesting findings including association of the sickle cell allele of betaglobin among non-Hispanic blacks. Our transcriptome-wide association study of kidney function in healthy kidney tissue identifies 36 previously unreported and nine known genes, and maps gene expression to renal cell types. In a Phenome-Wide Association Study in 192,868 MVP participants using a weighted genetic score we detect associations with CKD stages and complications and kidney stones. This investigation reinterprets the genetic architecture of kidney function to identify the gene, tissue, and anatomical context of renal homeostasis and the clinical consequences of dysregulation
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
Nature communications. - 10, 1 (2019) , 3842, ISSN: 2041-1723
- Schlagwort
-
Chronische Niereninsuffizienz
Genexpression
Niere
- Ereignis
-
Veröffentlichung
- (wo)
-
Freiburg
- (wer)
-
Universität
- (wann)
-
2019
- Urheber
-
Hellwege, Jacklyn N.
Velez Edwards, Digna R.
Giri, Ayush
Wuttke, Matthias
Li, Yong
Köttgen, Anna
Susztak, Katalin
Edwards, Todd L.
Hung, Adriana M.
- DOI
-
10.1038/s41467-019-11704-w
- URN
-
urn:nbn:de:bsz:25-freidok-1507531
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
25.03.2025, 13:48 MEZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Hellwege, Jacklyn N.
- Velez Edwards, Digna R.
- Giri, Ayush
- Wuttke, Matthias
- Li, Yong
- Köttgen, Anna
- Susztak, Katalin
- Edwards, Todd L.
- Hung, Adriana M.
- Universität
Entstanden
- 2019
Ähnliche Objekte (12)
Mechanismen der CFTR-vermittelten Hemmung des epithelialen Na+-Kanals
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
Association of eGFR-related loci identified by GWAS with incident CKD and ESRD
Association of omega 3 polyunsaturated fatty acids with incident chronic kidney disease: pooled analysis of 19 cohorts
Zirkulierende Angiopoietin-2- und Tie-2-Konzentrationen in Assoziation zur Nierenfunktion in einer populationsbasierten Studie
Ammoniakkonzentration in der Ausatemluft bei Patienten vor und nach der Dialyse
Modulation of genetic associations with serum urate levels by body-mass-index in humans
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Regional variation in hemoglobin distribution among individuals with CKD: the ISN international network of CKD cohorts
Genetic association for renal traits among participants of african ancestry reveals new loci for renal function
Correct use of non-indexed eGFR for drug dosing and renal drug-related problems at hospital admission
Renal recovery for patients with ANCA-associated vasculitis and low eGFR in the ADVOCATE trial of avacopan
Mechanismen der CFTR-vermittelten Hemmung des epithelialen Na+-Kanals
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
Association of eGFR-related loci identified by GWAS with incident CKD and ESRD
Association of omega 3 polyunsaturated fatty acids with incident chronic kidney disease: pooled analysis of 19 cohorts
Zirkulierende Angiopoietin-2- und Tie-2-Konzentrationen in Assoziation zur Nierenfunktion in einer populationsbasierten Studie
Ammoniakkonzentration in der Ausatemluft bei Patienten vor und nach der Dialyse
Modulation of genetic associations with serum urate levels by body-mass-index in humans
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Regional variation in hemoglobin distribution among individuals with CKD: the ISN international network of CKD cohorts
Genetic association for renal traits among participants of african ancestry reveals new loci for renal function
Correct use of non-indexed eGFR for drug dosing and renal drug-related problems at hospital admission
Renal recovery for patients with ANCA-associated vasculitis and low eGFR in the ADVOCATE trial of avacopan
Mechanismen der CFTR-vermittelten Hemmung des epithelialen Na+-Kanals
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium
Association of eGFR-related loci identified by GWAS with incident CKD and ESRD
Association of omega 3 polyunsaturated fatty acids with incident chronic kidney disease: pooled analysis of 19 cohorts
Zirkulierende Angiopoietin-2- und Tie-2-Konzentrationen in Assoziation zur Nierenfunktion in einer populationsbasierten Studie
Ammoniakkonzentration in der Ausatemluft bei Patienten vor und nach der Dialyse
Modulation of genetic associations with serum urate levels by body-mass-index in humans
Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Regional variation in hemoglobin distribution among individuals with CKD: the ISN international network of CKD cohorts
Genetic association for renal traits among participants of african ancestry reveals new loci for renal function
Correct use of non-indexed eGFR for drug dosing and renal drug-related problems at hospital admission