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

Genome-wide association study reveals loci with sex-specific effects on plasma bile acids

Arianna Landini, Dariush Ghasemi-Semeskandeh, Åsa Johansson, Shahzad Ahmad, Gerhard Liebisch, Carsten Gnewuch, Gannie Tzoneva, Alan R. Shuldiner, Andrew A. Hicks, Peter Paul Pramstaller, Cristian Pattaro, Harry Campbell, Ozren Polašek, Nicola Pirastu, Caroline Hayward, , Lucija Klarić

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

medRxiv · Dec 16, 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

Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

Edith Hofer, Gennady V. Roshchupkin, Hieab H.H. Adams, Maria J. Knol, Honghuang Lin, Shuo Li, Habil Zare, Shahzad Ahmad, Nicola J. Armstrong, Claudia Liliana Satizábal, Manon Bernard, Joshua C. Bis, Nathan A. Gillespie, Michelle Luciano A, Aniket Mishra, , Marcio Almeida

The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.

bioRxiv · Jun 19, 2019 · PreprintGenetics

Altered Bile Acid Profile Associates with Cognitive Impairment in Alzheimer’s Disease – An Emerging Role for Gut Microbiome

Siamak MahmoudianDehkordi, Matthias Arnold, Kwangsik T. Nho, Shahzad Ahmad, Wei Ping Jia, Guoxiang Xie, Gregory Louie, Alexandra Kueider‐Paisley, Martin Arthur Moseley, J. Will Thompson, Lisa St John Williams, Jessica D. Tenenbaum, Colette Blach, Rebecca Baillie, Xianlin Han, , Rima F Kaddurah-Daouk

The paper identifies altered bile acid profiles in Alzheimer's disease, linking them to cognitive impairment and genetic variants through a large study.

Alzheimer s & Dementia · Oct 15, 2018Peer-reviewedNeuroscience

Altered Bile Acid Profile in Mild Cognitive Impairment and Alzheimer’s Disease: Relationship to Neuroimaging and CSF Biomarkers

Kwangsik T. Nho, Alexandra Kueider‐Paisley, Siamak MahmoudianDehkordi, Matthias Arnold, Shannon L. Risacher, Gregory Louie, Colette Blach, Rebecca Baillie, Xianlin Han, Gabi Kastenmüller, Wei Ping Jia, Guoxiang Xie, Shahzad Ahmad, Thomas Hankemeier, Cornelia M. van Duijn, , Rima F Kaddurah-Daouk

The paper identifies associations between serum bile acid metabolites and AD biomarkers in the A/T/N framework, suggesting a potential role for bile acid pathways in AD pathophysiology.

Alzheimer s & Dementia · Oct 15, 2018Peer-reviewedNeuroscience

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

B K Kunkle, Benjamin Grenier‐Boley, Rebecca Sims, Joshua C. Bis, Adam Christian Naj, Anne Boland, Maria Vronskaya, Sven J. van der Lee, Alexandre Amlie‐Wolf, Céline Bellenguez, Aura Frizzati, Vincent Antoine Chouraki, Eden R. Martin, Kristel Sleegers, Nandini Badarinarayan, , Clive Holmes

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.

bioRxiv · Apr 5, 2018 · PreprintGenetics