This study identifies genetic variants and networks associated with ALS using GWAS data, revealing novel loci and functional sub-networks linked to disease.

bioRxiv · Feb 24, 2019 · PreprintGenetics

Lipid associated polygenic enrichment in Alzheimer’s disease

Iris Broce, Chin Hong Tan, Chun Chieh Fan, Aree Witoelar, Natalie Wen, Iris E. Jansen, Christopher Paul Hess, William P. Dillon, Christine M. Glastonbury, M. Maria Glymour, Jennifer S. Yokoyama, Fanny M. Elahi, Gil Dan Rabinovici, Bruce L. Miller, Elizabeth C. Mormino, , Rahul S. Desikan

The paper identifies genetic variants associated with Alzheimer's disease and cardiovascular risk factors, showing lipid-related enrichment and pleiotropy beyond APOE.

bioRxiv · Aug 3, 2018 · PreprintGenetics

CXCR4 involvement in neurodegenerative diseases

Luke W. Bonham, Celeste M M. Karch, Chun Chieh Fan, Chin Hong Tan, Ethan G. Geier, Yunpeng Wang, Natalie Wen, Iris Broce, Yi Li, Matthew J. Barkovich, Raffaele Ferrari, John Hardy, Parastoo Momeni, Günter U. Höglinger, Ulrich Müller, , Murray Grossman

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

Translational Psychiatry · Apr 11, 2018Peer-reviewedGenetics

Immune-related genetic enrichment in frontotemporal dementia

Iris Broce, Celeste M M. Karch, Natalie Wen, Chun Chieh Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A. Ross, Günter U. Höglinger, Ulrich Müller, John Hardy, Parastoo Momeni, Christopher Paul Hess, William P. Dillon, Zachary Miller, , John Collinge

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.

PLoS Medicine · Jan 9, 2018Peer-reviewedGenetics

Polygenic hazard score: an enrichment marker for Alzheimer’s associated amyloid and tau deposition

Alzheimer’s Disease Neuroimaging Initiative, Chin Hong Tan, Chun Chieh Fan, Elizabeth C. Mormino, Leo P. Sugrue, Iris Broce, Christopher Paul Hess, William P. Dillon, Luke W. Bonham, Jennifer S. Yokoyama, Celeste M M. Karch, James B. Brewer, Gil Dan Rabinovici, Bruce L. Miller, Gerard D. Schellenberg, , Rahul S. Desikan

This study evaluates whether a polygenic hazard score (PHS) can enhance the prediction of amyloid and tau deposition and progression to Alzheimer’s dementia when combined with biomarkers in nondemented individuals.

Acta Neuropathologica · Nov 24, 2017Peer-reviewedGenetics

Personalized genetic assessment of age associated Alzheimers disease risk

Rahul S. Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J. Schork, Howard J. Cabral, Adrienne Cupples, Wesley K. Thompson, Lilah Besser, Walter A. Kukull, Dominic Holland, Chi-Hua Chen, James B. Brewer, David S. Karow, Karolina Kauppi, Aree Witoelar, , Anders N. Dale

This paper develops and validates a polygenic hazard score to predict age-specific Alzheimer's disease risk using genetic data from multiple cohorts.

PLOS Medicine · Mar 21, 2017Peer-reviewedGenetics