biostudies-literaturePottinger TDNIA NIH HHSNIAID NIH HHS651https://www.ebi.ac.uk/biostudies/studies/S-EPMC11218304biostudies-literatureUnknown25(1)<h4>Background</h4>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent symptoms continue to develop, such as antisense oligonucleotides, it is important to discover novel genes that could be targets for treatment. Additionally, as cohorts continue to grow, performing analyses in ALS subtypes, such as primary lateral sclerosis (PLS), becomes possible due to an increase in power. These analyses could highlight novel pathways in disease manifestation.BMC genomicsRare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.PMC11218304P01 AG007232UM1 AI100645U19 AI067854R01 AG037212Dardiotis EKoczon-Jaremko AMitsumoto HOskarsson BEWilliams NBroach JRPals SGennings CSwenson AJBedlack RMacGowan DJBedlack RSFernandes JAMSantella RWang LALS COSMOS Study GroupForshew DGreene EShoesmith CBaas FKwan JSorenson EJFoster LRollins YDFloeter MKShefner JMWang HITobias EGoetz RMalaspina AMozaffar TSantoyo-Lopez JParrott SFraenkel ECox GAFactor-Litvak PPLS COSMOS Study GroupSareen DHornstein EAitman TJMiller TMMcGowan RGoutman SPorteous MAndrews JAHarms MBMoreno CAMSimmons ZLee EBPovysil GThompson LMBaloh RMotelow JEPhatnani HGTAC InvestigatorsPottinger TDRen ZGoldstein DBDeerlin VMVMiller TFratta PManousakis GBerry JDAndrews HMiller RNath AFinkbeiner SHammell MGArcila-Londono XMurphy JLacomis DNations SPDubnau JBarohn RJNations SBerg JKaram CKasarskis EPatsopoulos NAScottish Genomes PartnershipSherman AHeiman-Patterson TMiedzybrodzka ZKasarskis EJOstrow LWZaitlen NAppel SNagy PLKatz JSNew York Genome Center ALS Sequencing ConsortiumPal SChandran SHeitzman DLomen-Hoerth CfalseRare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.<h4>Background</h4>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts physical function. Approximately, 15% of individuals diagnosed with ALS have a known genetic variant that contributes to their disease. As therapies that slow or prevent symptoms continue to develop, such as antisense oligonucleotides, it is important to discover novel genes that could be targets for treatment. Additionally, as cohorts continue to grow, performing analyses in ALS subtypes, such as primary lateral sclerosis (PLS), becomes possible due to an increase in power. These analyses could highlight novel pathways in disease manifestation.2024-01-01T00:00:00Z2024 Jun2025-04-04T12:55:29.665Z2025-04-04T12:55:29.665ZS-EPMC112183043895179810.1186/s12864-024-10538-1