biostudies-literatureLanders JENCRR NIH HHSHoward Hughes Medical InstituteMedical Research CouncilWellcome Trust9004-9https://www.ebi.ac.uk/biostudies/studies/S-EPMC2683883biostudies-literatureUnknown106(22)Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility and phenotypes in sporadic ALS, we performed a genome-wide SNP analysis in sporadic ALS cases and controls. A total of 288,357 SNPs were screened in a set of 1,821 sporadic ALS cases and 2,258 controls from the U.S. and Europe. Survival analysis was performed using 1,014 deceased sporadic cases. Top results for susceptibility were further screened in an independent sample set of 538 ALS cases and 556 controls. SNP rs1541160 within the KIFAP3 gene (encoding a kinesin-associated protein) yielded a genome-wide significant result (P = 1.84 x 10(-8)) that withstood BonferronProceedings of the National Academy of Sciences of the United States of AmericaReduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.PMC2683883U54 RR020278-01G0600974G0500289BMC_G1000733G0900688U54 RR020278G0500289089701Landers JEMelki Jvan den Berg LHShi LTicozzi NHorvitz HRPurcell SPowell JFCho TJWills AMvan Es MAHosler BAGalan PHansen VKSaris CGRodriguez-Leyva ICouture NSimpson CLCronin SSilani VLeigh PNMeininger VGlass JDShaw CEDiekstra FPvan Vught PWOphoff RAOzoguz AMcKenna-Yasek DMKwiatkowski TJCorcia PHeath SSapp PCBarnes-Nessa AHardiman OSalachas FGeorges FWokke JHBlauw HMPolak MIvinson AJAl-Chalabi ABroom WJVeldink JHBrown RHLathrop MfalseReduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility and phenotypes in sporadic ALS, we performed a genome-wide SNP analysis in sporadic ALS cases and controls. A total of 288,357 SNPs were screened in a set of 1,821 sporadic ALS cases and 2,258 controls from the U.S. and Europe. Survival analysis was performed using 1,014 deceased sporadic cases. Top results for susceptibility were further screened in an independent sample set of 538 ALS cases and 556 controls. SNP rs1541160 within the KIFAP3 gene (encoding a kinesin-associated protein) yielded a genome-wide significant result (P = 1.84 x 10(-8)) that withstood Bonferron2009-01-01T00:00:00Z2009 Jun2026-05-03T14:21:52.567Z2026-04-21T03:10:15.645ZS-EPMC26838831945162110.1073/pnas.0812937106