The paper identifies 508 CKD-associated genetic loci, prioritizes 651 kidney genes, and highlights novel CKD genes like CA12 with functional consequences.

1 citation

humanDNA methylation

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 3, 2025

Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities

Douglas P. Loesch, Manik Garg, Dorota Matelska…·Michael Inouye

The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

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humanproteomics

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Genetic & Genomic MedicinemedRxivPreprintJul 23, 2024

Genetic ancestral patterns in CYP2D6 alleles: structural variants, rare variants, and clinical associations in 479,144 UK Biobank genomes

Xiao Jiang, Fengyuan Hu, Xueqing Zoe Zou…·Katherine R. Smith

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

1 citation

humanwhole-genome sequencing

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GeneticsbioRxivPreprintApr 28, 2024

Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health

Sam M. Lockhart, Milan Mušo, Ilona Zvetkova…·Stephen O’Rahilly

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

1 citation

humanmouse

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