{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Iacoangeli A"],"funding":["Economic and Social Research Council","Guy&apos;s and St Thomas&apos; Charity","Spastic Paraplegia Foundation","Motor Neurone Disease Association","MND Scotland","Guy&apos;s and St Thomas&apos; NHS Foundation Trust","EU Joint Programme – Neurodegenerative Disease Research","Motor Neurone Disease Research Institute of Australia","Medical Research Council","Horizon 2020","National Institute for Health Research (NIHR)","National Health and Medical Research Council","Maudsley Charity","Wellcome Trust"],"pagination":["108323"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7610013"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(4)"],"pubmed_abstract":["We meta-analyze amyotrophic lateral sclerosis (ALS) genome-wide association study (GWAS) data of European and Chinese populations (84,694 individuals). We find an additional significant association between rs58854276 spanning ACSL5-ZDHHC6 with ALS (p = 8.3 × 10<sup>-9</sup>), with replication in an independent Australian cohort (1,502 individuals; p = 0.037). Moreover, B4GALNT1, G2E3-SCFD1, and TRIP11-ATXN3 are identified using a gene-based analysis. ACSL5 has been associated with rapid weight loss, as has another ALS-associated gene, GPX3. Weight loss is frequent in ALS patients and is associated with shorter survival. We investigate the effect of the ACSL5 and GPX3 single-nucleotide polymorphisms (SNPs), using longitudinal body composition and weight data of 77 patients and 77 controls. "],"journal":["Cell reports"],"pubmed_title":["Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics."],"pmcid":["PMC7610013"],"funding_grant_id":["Iacoangeli/Apr19/869-791","MC_PC_17214","ALCHALABI-TALBOT/APR14/926-794","HDR-2007","HDR-9004","MR/L501529/1","HDR-9002","HDR-9003","AL-CHALABI/APR15/844-791","ES/L008238/1","G0600974","ALCHALABI-DOBSON/APR14/829-791","MR/R024804/1","CS-2018-18-ST2-014"],"pubmed_authors":["Wray NR","Lin T","Coleman JRI","Sachdev PS","Mathers S","McCombe PA","Henderson R","Fogh I","Williams KL","Garton F","Dobson RJB","Pamphlett R","Blair IP","Needham M","Restuadi R","Henders AK","Schultz D","Steyn FJ","Shatunov A","Iacoangeli A","Ngo ST","Mather KA","Nicholson GA","Al Khleifat A","Opie-Martin S","Rowe DB","Sproviero W","Newhouse SJ","Al-Chalabi A","Jones AR","Proitsi P"],"additional_accession":[]},"is_claimable":false,"name":"Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.","description":"We meta-analyze amyotrophic lateral sclerosis (ALS) genome-wide association study (GWAS) data of European and Chinese populations (84,694 individuals). We find an additional significant association between rs58854276 spanning ACSL5-ZDHHC6 with ALS (p = 8.3 × 10<sup>-9</sup>), with replication in an independent Australian cohort (1,502 individuals; p = 0.037). Moreover, B4GALNT1, G2E3-SCFD1, and TRIP11-ATXN3 are identified using a gene-based analysis. ACSL5 has been associated with rapid weight loss, as has another ALS-associated gene, GPX3. Weight loss is frequent in ALS patients and is associated with shorter survival. We investigate the effect of the ACSL5 and GPX3 single-nucleotide polymorphisms (SNPs), using longitudinal body composition and weight data of 77 patients and 77 controls. ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Oct","modification":"2026-05-03T08:09:59.088Z","creation":"2025-05-29T22:20:26.488Z"},"accession":"S-EPMC7610013","cross_references":{"pubmed":["33113361"],"doi":["10.1016/j.celrep.2020.108323"]}}