Bivariate GSA-MiXeR is a tool that models genetic correlations between two traits to identify genomic regions associated with psychiatric and neurodegenerative disorders using single-cell RNA sequencing data.

medRxiv · Dec 17, 2025 · PreprintGenetic & Genomic Medicine

Genomic analyses reveal new insights into Alzheimer's disease

Emil Uffelmann, Douglas P. Wightman, Shahram Bahrami, Alexey A. Shadrin, Vera Fominykh, Takafumi Ojima, Chenyang Jiang, Christian Benner, Elisa Moreno, Adrián I. Campos, Jesper Qvist Thomassen, Emmanuel Minois-Genin, Hei Man Wu, G. Bragi Walters, Richard Sherva, , Niccoló Tesi

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

medRxiv · Oct 10, 2025 · PreprintGenetic & Genomic Medicine

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

Jesper Qvist Thomassen, Hampton L. Leonard, Brittany Ulms, Benjamin Grenier‐Boley, Sami Heikkinen, Pablo García‐González, Atahualapa Castillo-Morales, Masataka Kikuchi, Jungsoo Gim, Han Cao, Fahri Küçükali, Najaf Amin, Dabin Yoon, Itziar de Rojas, Pilar Álvarez Jerez, , Eystein Stordal

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

medRxiv · May 7, 2025 · PreprintGenetic & Genomic Medicine

Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

Elizabeth Gibbons, Arvid Rongve, Itziar de Rojas, Alexey A. Shadrin, Kaitlyn Westra, Allison Baumgartner, Levi Rosendall, Zachary Madaj, Dena G. Hernandez, Owen A. Ross, Valentina Escott‐Price, Claire E. Shepherd, Laura Parkkinen, Sonja W. Scholz, Juan Carlos Troncoso, , Minna Oinas

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

medRxiv · Nov 22, 2022 · PreprintGenetic & Genomic Medicine

Largest GWAS (N=1,126,563) of Alzheimer's Disease Implicates Microglia and Immune Cells

Douglas P. Wightman, Iris E. Jansen, Jeanne E. Savage, Alexey A. Shadrin, Shahram Bahrami, Arvid Rongve, Sigrid Børte, Bendik Slagsvold Winsvold, Ole Kristian Drange, Amy E. Martinsen, Anne Heidi Skogholt, Cristen J. Willer, Geir Bråthen, Ingunn Bosnes, Jonas Bille Nielsen, , Daniëlle Posthuma

This study identifies seven novel genetic loci for Alzheimer's disease using a large GWAS and highlights microglia and immune pathways as key contributors to disease pathology.

medRxiv · Nov 20, 2020 · PreprintGenetic & Genomic Medicine

Association between schizophrenia polygenic score and psychotic symptoms in Alzheimer disease: meta-analysis of 11 cohort studies

Byron Creese, Evangelos Vassos, Sverre Bergh, Lavinia Athanasiu, Iskandar Johar, Arvid Rongve, Ingrid Tøndel Medbøen, Miguel Vasconcelos Da Silva, Eivind Aakhus, Fred Andersen, Francesco Bettella, Anne Brækhus, Srdjan Djurovic, Giulia Paroni, Petroula Proitsi, , Geir Selbæk

This study finds a genetic link between schizophrenia polygenic risk and psychotic symptoms, particularly delusions, in Alzheimer's disease through a meta-analysis of 11 cohort studies.

Translational Psychiatry · Oct 22, 2019Peer-reviewedGenomics

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

Iris E. Jansen, Jeanne E. Savage, Kyoko Watanabe, Julien Bryois, Dylan M. Williams, Stacy Steinberg, Julia Sealock, Ida Karlsson, Sara Hägg, Lavinia Athanasiu, Nicola Voyle, Petroula Proitsi, Aree Witoelar, Sven Stringer, Dag Aarsland, , Daniëlle Posthuma

This study identifies 9 novel genetic loci and 215 potential causative genes associated with Alzheimer's disease risk through a large genome-wide association analysis.

bioRxiv · Feb 22, 2018 · PreprintGenetics