Investigating ELOVL7 coding variants in multiple system atrophy.
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.
['Wernick|Anna I|AI|', 'Walton|Ronald L|RL|', 'Soto-Beasley|Alexandra I|AI|', 'Koga|Shunsuke|S|', 'Ren|Yingxue|Y|', 'Heckman|Michael G|MG|', 'Milanowski|Lukasz M|LM|', 'Valentino|Rebecca R|RR|', 'Kondru|Naveen|N|', 'Uitti|Ryan J|RJ|', 'Cheshire|William P|WP|', 'Wszolek|Zbigniew K|ZK|', 'Dickson|Dennis W|DW|', 'Ross|Owen A|OA|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D000081031:Fatty Acid Elongases D005260:Female D055106:Genome-Wide Association Study D006801:Humans D008297:Male D008875:Middle Aged D019578:Multiple System Atrophy D010300:Parkinson Disease D020641:Polymorphism, Single Nucleotide D051844:alpha-Synuclein
ELOVL7 Multiple system atrophy Genetics Lipids Synucleinopathy