@article{ca81bbc24c274e2e922bf9f71f5342e1,
title = "Investigating ELOVL7 coding variants in multiple system atrophy",
abstract = "Multiple system atrophy (MSA) is a rare sporadic, progressive parkinsonism characterised by autonomic dysfunction. A recent genome-wide association study reported an association at the Elongation of Very Long Fatty Acids Protein 7 (ELOVL7) locus with MSA risk. In the current study four independent and unrelated cohorts were assessed, consisting of pathologically confirmed MSA cases, Parkinson's disease (PD) cases, and two unrelated, healthy control groups. All exons of ELOVL7 were sequenced in pathologically confirmed MSA cases; data for PPMI samples and Biobank controls was extracted from whole genome sequence. Coding variants in ELOVL7 were extremely rare, and we observed no significant association of ELOVL7 coding variants with risk of MSA.",
keywords = "ELOVL7, Genetics, Lipids, Multiple system atrophy, Synucleinopathy",
author = "Wernick, {Anna I.} and Walton, {Ronald L.} and Soto-Beasley, {Alexandra I.} and Shunsuke Koga and Yingxue Ren and Heckman, {Michael G.} and Milanowski, {Lukasz M.} and Valentino, {Rebecca R.} and Naveen Kondru and Uitti, {Ryan J.} and Cheshire, {William P.} and Wszolek, {Zbigniew K.} and Dickson, {Dennis W.} and Ross, {Owen A.}",
note = "Funding Information: SK is supported by a Jaye F. and Betty F. Dyer Foundation Fellowship in progressive supranuclear palsy research, and CBD Solutions Research Grant. LMM is supported by the Polish National Agency for Academic Exchange Iwanowska{\textquoteright}s Fellowship PPN/IWA/2018/1/00006/U/00001/01. ZKW is partially supported by the Mayo Clinic Center for Regenerative Medicine, the gifts from The Sol Goldman Charitable Trust, and the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson{\textquoteright}s Research Foundation. He serves as PI or Co-PI on Biogen, Inc. (228PD201) grant, Biohaven Pharmaceuticals, Inc. (BHV4157-206 and BHV3241-301), and Neuraly, Inc. (NLY01-PD-1). PPMI – a public-private partnership – is funded by the Michael J. Fox Foundation for Parkinson{\textquoteright}s Research and funding partners, including [list the full names of all of the PPMI funding partners found at www.ppmi-info.org/fundingpartners ]. The PPMI Investigators have not participated in reviewing the data analysis or content of the manuscript. For up-to-date information on the study, visit www.ppmi-info.org . O.A. Ross is supported by the National Institutes of Health (NIH; R01 NS78086; U54 NS100693; U54 NS110435), the US Department of Defense (W81XWH-17-1-0249), The Little Family Foundation, Mayo Clinic Functional Genomics of LBD Program, the Mayo Clinic Center for Individualized Medicine, and the Michael J. Fox Foundation. The funding organizations and sponsors had no role in any of the following: design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication. Funding Information: We would like to thank all those who have contributed to our research, particularly the patients and families who donated brain and DNA samples for this work. We are grateful to all patients, family members, and caregivers who agreed to brain donation; without their donation these studies would have been impossible. We also acknowledge expert technical assistance of Virginia Phillips for histology and Monica Castanedes-Casey for immunohistochemistry. Mayo Clinic is an American Parkinson Disease Association (APDA) Mayo Clinic Information and Referral Center, an APDA Center for Advanced Research and the Mayo Clinic Lewy Body Dementia Association (LBDA) Research Center of Excellence. Samples included in this study were clinical controls or brain donors to the brain bank at Mayo Clinic in Jacksonville which is supported by CurePSP and the Tau Consortium. Publisher Copyright: {\textcopyright} 2021 Elsevier B.V.",
year = "2021",
month = apr,
day = "1",
doi = "10.1016/j.neulet.2021.135723",
language = "English (US)",
volume = "749",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
}