This study uses Mendelian randomization to identify risk factors for kidney function decline in CKD and the general population, finding causal effects of type-2 diabetes and high TSH.

medRxiv · Sep 8, 2026 · PreprintGenetic & Genomic Medicine

Uncovering the Genetic Architecture of Optic Nerve Integrity Estimates through Genome-wide Association Study Meta-analyses

Asma M. Aman, Santiago Díaz‐Torres, Samantha Sze‐Yee Lee, Sjoerd J. Driessen, Victor A. de Vries, Frank C. T. van der Heide, Antonia Kolovos, Joshua M. Schmidt, Henry N. Marshall, Lania Saleh, Alicia Schulze, Gabriëlla A.M. Blokland, Carroll A.B. Webers, Carla Kallen, Anke Wesselius, , Puya Gharahkhani

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

medRxiv · Feb 10, 2026 · 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

Cardiometabolic drugs and kidney function - a drug target Mendelian randomisation study

Aristomo Andries, Schyler Marie Bennett, Venexia M. Walker, Iris M. Heid, Anna Köttgen, Mathias Gorski, Artemis A. Briasouli, Jie Zheng, Kristian Hveem, Stein Ivar Hallan, Bjørn Olav Åsvold, Tom R. Gaunt, Ben Michael Brumpton, Humaira Rasheed

This study uses Mendelian randomization to assess how cardiometabolic drugs affect kidney function, finding specific drug targets influence eGFR and related biomarkers.

medRxiv · Jun 16, 2025 · PreprintGenetic & Genomic Medicine

Distinctive cross-ancestry genetic architecture for age-related macular degeneration

Bryan R. Gorman, Georgios Voloudakis, Robert P. Igo, Tyler G. Kinzy, Christopher W. Halladay, Tim B. Bigdeli, Biao Zeng, Sanan Venkatesh, Jessica N. Cooke Bailey, Dana C. Crawford, Kyriacos Markianos, Frederick N. Dong, Patrick A. Schreiner, Wen Zhang, VA Million Veteran Program, , Srinivas V. Goverdhan

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

Nature Genetics · Dec 1, 2024Peer-reviewedGenetic & Genomic Medicine

metaGWASmanager: A toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia

Zulema Rodriguez-Hernandez, Mathias Gorski, María Téllez-Plaza, Pascal Schlosser, Matthias Wuttke

metaGWASmanager automates GWAS workflows for consortia, ensuring consistent phenotypes and quality control, improving efficiency and reliability of association results.

Bioinformatics · Apr 29, 2024Peer-reviewedGenetics

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

Loïc Yengo, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, Anders Ulrik Eliasen, Yunxuan Jiang, Sridharan Raghavan, Jenkai Miao, Joshua D. Arias, Ronen E. Mukamel, Cassandra Nichole Spracklen, Xianyong Yin, , Thomas Folkmann Hansen

This study identifies 12,111 SNPs associated with height from 5.4 million individuals, explaining most common SNP-based heritability and showing ancestry-specific prediction accuracy.

bioRxiv · Jan 7, 2022 · PreprintGenetics

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals

Kira J. Stanzick, Yong Li, Pascal Schlosser, Mathias Gorski, Matthias Wuttke, Laurent F. Thomas, Humaira Rasheed, Bryce X. Rowan, Sarah E. Graham, Brett R. Vanderweff, Snehal B. Patil, VA Million Veteran Program, Cassianne Robinson‐Cohen, J. Michael Gaziano, Christopher J. O’Donnell, , Thomas W. Winkler

This study identifies 424 new loci associated with kidney function using GWAS data from over 1.2 million individuals and prioritizes 34 genes for further functional investigation.

Nature Communications · Jul 16, 2021Peer-reviewedGenetics

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