Kidney disease genetic risk variants alter lysosomal beta-mannosidase (

Animals Genome-Wide Association Study Humans Kidney Diseases / genetics Lysosomes Mannosidases Mice Risk Factors Severity of Illness Index beta-Mannosidase / genetics

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
13 01 2021
Historique:
received: 20 08 2019
revised: 08 04 2020
accepted: 09 12 2020
entrez: 14 1 2021
pubmed: 15 1 2021
medline: 13 7 2021
Statut: ppublish

Résumé

More than 800 million people in the world suffer from chronic kidney disease (CKD). Genome-wide association studies (GWAS) have identified hundreds of loci where genetic variants are associated with kidney function; however, causal genes and pathways for CKD remain unknown. Here, we performed integration of kidney function GWAS and human kidney-specific expression quantitative trait analysis and identified that the expression of beta-mannosidase (

Identifiants

DOI: 10.1126/scitranslmed.aaz1458 PMID: 33441424 PMC: PMC8627675
pubmed: 33441424
pii: 13/576/eaaz1458
doi: 10.1126/scitranslmed.aaz1458
pmc: PMC8627675
mid: NIHMS1756618
pii:
doi:

Substances chimiques

MANBA protein, human EC 3.2.1.-
Mannosidases EC 3.2.1.-
beta-Mannosidase EC 3.2.1.25

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIDDK NIH HHS
ID : DP3 DK108220
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001878
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK087635
Pays : United States
Organisme : CSRD VA
ID : IK2 CX001780
Pays : United States
Organisme : BLRD VA
ID : I01 BX003360
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK076077
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK105821
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Xiangchen Gu (X)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Division of Nephrology, Yueyang Hospital of Integrative Traditional Chinese and Western Medicine, Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China.
ORCID: 0000-0003-1159-8565

Hongliu Yang (H)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Division of Nephrology, West China Hospital of Sichuan University, Chengdu 610041, China.
ORCID: 0000-0001-5304-4777

Xin Sheng (X)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-3620-3577

Yi-An Ko (YA)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Chengxiang Qiu (C)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-6346-8669

Jihwan Park (J)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-5728-912X

Shizheng Huang (S)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-9240-1578

Rachel Kember (R)

Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
ORCID: 0000-0001-8820-2659

Renae L Judy (RL)

Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

Joseph Park (J)

Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-3313-641X

Scott M Damrauer (SM)

Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.

Girish Nadkarni (G)

Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
The Hasso Plattner Institute of Digital Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Ruth J F Loos (RJF)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0002-8532-5087

Vy Thi Ha My (VTH)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0002-5117-3740

Kumardeep Chaudhary (K)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0002-4117-6403

Erwin P Bottinger (EP)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
The Hasso Plattner Institute of Digital Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0001-6868-6676

Ishan Paranjpe (I)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0001-5144-0370

Aparna Saha (A)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
ORCID: 0000-0003-3911-8391

Christopher Brown (C)

Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-3785-5008

Shreeram Akilesh (S)

Department of Pathology, University of Washington, Seattle, WA 98195, USA.
ORCID: 0000-0003-3152-7991

Adriana M Hung (AM)

Nashville VA Medical Center, Nashville, TN 37212, USA.
Vanderbilt Center for Kidney Disease, Vanderbilt University Medical Center, Nashville, TN 37212, USA.
ORCID: 0000-0002-3203-1608

Matthew Palmer (M)

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Aris Baras (A)

Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.

John D Overton (JD)

Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
ORCID: 0000-0001-7650-8634

Jeffrey Reid (J)

Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
ORCID: 0000-0001-8645-4713

Marylyn Ritchie (M)

Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-1208-1720

Daniel J Rader (DJ)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Katalin Susztak (K)

Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. ksusztak@pennmedicine.upenn.edu.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
ORCID: 0000-0002-1005-3726

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Vésicules cytoplasmiques › Lysosomes › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Mannosidases › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › Kidney disease genetic risk variants alter...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Mannosidases › beta-Mannosidase › Kidney disease genetic risk variants alter...