The paper identifies causal protein drivers and drug targets for heterogeneous kidney diseases using proteome-wide Mendelian randomization and EHR data.

medRxiv · Oct 9, 2025 · PreprintGenetic & Genomic Medicine

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

Mengyu Zhang, Michael R. Brown, Amy R. Bentley, Thomas W. Winkler, Raymond Noordam, Pavithra Nagarajan, Bohong Guo, Songmi Lee, Karen Schwander, Wenyi Wang, Kenneth E. Westerman, Jeffrey R. O’Connell, Farah Ammous, Anna D. Argoty-Pantoja, Traci M. Bartz, , Bertha Hidalgo

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations

Pavithra Nagarajan, Thomas W. Winkler, Amy R. Bentley, Clint L. Miller, Aldi T. Kraja, Karen Schwander, Songmi Lee, Wenyi Wang, Michael R. Brown, John L. Morrison, Ayush Giri, Jeffrey R. O’Connell, Traci M. Bartz, Lisa de las Fuentes, Valborg Guðmundsdóttir, , Stephen S. Rich

This study identifies 22 novel gene-sleep duration interaction loci for blood pressure traits across 811,405 individuals, highlighting distinct genetic influences of short and long sleep on cardiovascular health.

Molecular Psychiatry · Apr 4, 2025Peer-reviewedGenetic & Genomic Medicine

A clinical algorithm to identify people with the glucose-6-phosphate dehydrogenase p.Val68Met variant at risk for diabetes undertreatment

Yash Pershad, Joseph H. Breeyear, Robert W. Corty, Jonathan D. Mosley, Lawrence S. Phillips, Ayush Giri, Dan M. Roden, Todd L. Edwards, Alexander G. Bick

The paper develops a clinical algorithm to identify individuals with G6PD p.Val68Met variant at risk for diabetes undertreatment using routine lab measurements.

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

A Large-Scale Genome-Wide Gene-Sleep Interaction Study in 732,564 Participants Identifies Lipid Loci Explaining Sleep-Associated Lipid Disturbances

Raymond Noordam, Wenyi Wang, Pavithra Nagarajan, Heming Wang, Michael R Brown, Amy R. Bentley, Qin Hui, Aldi T. Kraja, John L. Morrison, Jeffrey R. O’Connel, Songmi Lee, Karen Schwander, Traci M. Bartz, Lisa de las Fuentes, Mary Furlan Feitosa, , Rima Destya Triatin

This study identifies 17 genetic loci associated with sleep duration and lipid levels, offering potential druggable targets for dyslipidemia in individuals with sleep disturbances.

medRxiv · Sep 2, 2024 · PreprintGenetic & Genomic Medicine

A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

Marijana Vujković, Shweta Ramdas, Kimberly Lorenz, Xiuqing Guo, Rebecca Darlay, Heather Jane Cordell, Jing He, Yevgeniy Gindin, Chuhan Chung, Robert P. Myers, Carolin Victoria Schneider, Joseph Park, Kyung Min Lee, Marina Serper, Rotonya M. Carr, , Kyong‐Mi Chang

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

Nature Genetics · Jun 1, 2022Peer-reviewedGenetic & Genomic Medicine

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

Anne E. Justice, Tugce Karaderi, Heather M. Highland, Kristin L. Young, Mariaelisa Graff, Yingchang Lu, Valérie Turcot, Paul Livermore Auer, Rebecca S. Fine, Xiuqing Guo, Claudia Schurmann, Adelheid M. Lempradl, Eirini Marouli, Anubha Mahajan, Thomas W. Winkler, , Andrew Tym Hattersley

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

Nature Genetics · Feb 18, 2019Peer-reviewedGenetics