The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

medRxiv · Jul 13, 2023 · 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

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

Henne H. Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Alzheimer's Disease Neuroimaging Initiative Database, , John Hardy

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Nature Genetics · Nov 21, 2022Peer-reviewedGenetic & Genomic Medicine

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga, Sara Sáez-Atiénzar, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Mónica Díez-Fairén, Makayla K. Portley, Zalak Shah, Yevgeniya A. Abramzon, , Thomas G. Beach

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

bioRxiv · Jul 6, 2020 · PreprintGenomics

Heritability and genetic variance of dementia with Lewy bodies

Rita João Guerreiro, Valentina Escott‐Price, Dena G. Hernandez, Célia Kun‐Rodrigues, Owen A. Ross, Tatiana Orme, João Luís Neto, Susana Carmona, Nadia Dehghani, John D. Eicher, Claire E. Shepherd, Laura Parkkinen, Lee Darwent, Michael G. Heckman, Sonja W. Scholz, , José Brás

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.

Neurobiology of Disease · Apr 3, 2019Peer-reviewedNeuroscience