Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.

DeForest, Natalie; Kavitha, Babu; Hu, Siqi; Isaac, Roi; Krohn, Lynne; Wang, Minxian; Du, Xiaomi; De Arruda Saldanha, Camila; Gylys, Jenny; Merli, Edoardo; Abagyan, Ruben; Najmi, Laeya; Mohan, Viswanathan; Flannick, Jason; Peloso, Gina M; Gordts, Philip L S M; Heinz, Sven; Deaton, Aimee M; Khera, Amit V; Olefsky, Jerrold; Radha, Venkatesan; Majithia, Amit R

DeForest, Natalie; Kavitha, Babu; Hu, Siqi; Isaac, Roi; Krohn, Lynne; Wang, Minxian; Du, Xiaomi; De Arruda Saldanha, Camila; Gylys, Jenny; Merli, Edoardo; Abagyan, Ruben; Najmi, Laeya; Mohan, Viswanathan; Flannick, Jason; Peloso, Gina M; Gordts, Philip L S M; Heinz, Sven; Deaton, Aimee M; Khera, Amit V; Olefsky, Jerrold; Radha, Venkatesan; Majithia, Amit R.

Afiliação

DeForest N; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Kavitha B; Biomedical Sciences Graduate Program, University of California San Diego, La Jolla, CA, USA.
Hu S; Department of Molecular Genetics, Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes, Affiliated with University of Madras, Chennai, India.
Isaac R; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Krohn L; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Wang M; Alnylam Pharmaceuticals, Cambridge, MA, USA.
Du X; Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
De Arruda Saldanha C; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Gylys J; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Merli E; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Abagyan R; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Najmi L; Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA, USA.
Mohan V; Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gordts PLSM; Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Heinz S; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Deaton AM; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Khera AV; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Olefsky J; Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA.
Radha V; Division of Endocrinology, Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Majithia AR; Alnylam Pharmaceuticals, Cambridge, MA, USA.

Cell Genom ; 3(7): 100339, 2023 Jul 12.

Article em En | MEDLINE | ID: mdl-37492105

Palavras-chave

ANGPTL3; HNF1A; PCSK9; UK Biobank; atherosclerosis; coronary artery disease; deep mutational scan; diabetes; gain of function; inflammation; saturation mutagenesis

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Cell Genom Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos