Genome Wide Association Studies

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Data Analysis of GWAS in ALSoD

For a graphical overview of all submitted genome wide results in ALS click here       OR

For on-the-fly meta-analysis of uploaded data from users click here      OR

Type SNP required e.g. rs1000104         OR

Select a chromosome to view in UCSC genome browser      



HuGE Navigator      HGVbaseG2P v3.0      Data Analysis of GWAS     Published GWAS data in ALS     ALSGene    

Data as published in :

"Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study" Lancet Neurol. 2010 Aug 27. [Epub ahead of print] Abstract

Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ.

"Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study" Lancet Neurol. 2010 Aug 27. [Epub ahead of print] Abstract

Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chiò A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH Jr, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A

"Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis" Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. Epub 2009 May 18. Abstract

Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr.

"Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis" Nat Genet. 2009 Oct;41(10):1083-7. Epub 2009 Sep 6. Abstract

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH.

"Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data" Lancet Neurol. 2007 Apr;6(4):322-8. Abstract

Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chiò A, Singleton A, Hardy J, Traynor BJ.

"Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis" Nat Genet. 2008 Jan;40(1):29-31. Epub 2007 Dec 16. Abstract

van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V, Baas F, van't Slot R, Lemmens R, Schelhaas HJ, Birve A, Sleegers K, Van Broeckhoven C, Schymick JC, Traynor BJ, Wokke JH, Wijmenga C, Robberecht W, Andersen PM, Veldink JH, Ophoff RA, van den Berg LH.

"Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen" Lancet Neurol. 2008 Apr;7(4):319-26. Epub 2008 Mar 3. Abstract

Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH.

"Screening for replication of genome-wide SNP associations in sporadic ALS" Eur J Hum Genet. 2009 Feb;17(2):213-8. Epub 2008 Nov 5. Abstract

Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O.

"A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis" Hum Mol Genet. 2009 Apr 15;18(8):1524-32. Epub 2009 Feb 4. Abstract

Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ.

"Whole-genome analysis of sporadic amyotrophic lateral sclerosis" N Engl J Med. 2007 Aug 23;357(8):775-88. Epub 2007 Aug 1. Abstract

Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA.

"Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis" BMC Med Genet. 2009 Sep 9;10:86. Abstract

Sha Q, Zhang Z, Schymick JC, Traynor BJ, Zhang S.

"ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study" Lancet Neurol. 2007 Oct;6(10):869-77. Abstract

van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW, van 't Slot R, Birve A, Lemmens R, de Jong V, Baas F, Schelhaas HJ, Sleegers K, Van Broeckhoven C, Wokke JH, Wijmenga C, Robberecht W, Veldink JH, Ophoff RA, van den Berg LH.

"A genome-wide association study of sporadic ALS in a homogenous Irish population" Hum Mol Genet. 2008 Mar 1;17(5):768-74. Epub 2007 Dec 5. Abstract

Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O.


Published GWAS data in ALS (45)

Data here are derived from GWAS Catalogue which is a catalogue of Genome-Wide Association Studies.
Each field or column is sortable. Click  to download the GWAS data as seen below.
SNP (rs)RegionGenesFirst_AuthorYearInitial sample sizeReplication sample sizeRisk alleleRisk allele frequencyP_valueP_value_textOdd ratio / betaCI and 95_percent_textPlatform and snp_passing_QC
rs3849942,rs101229029p21.2IntergenicShatunov20104,857 European ancestry cases, 8,987 European ancestry controlsNR20.57 (GG)5E-11 NRNRIllumina [227,475]
rs148890211q14.3NRShatunov20104,857 European ancestry cases, 8,987 European ancestry controlsNRCNR3E-6  1.15[NR]Illumina [227,475]
rs479908818q23NRShatunov20104,857 European ancestry cases, 8,987 European ancestry controlsNR?NR9E-6  1.15[NR]Illumina [227,475]
rs3849942,rs101229029p21.2IntergenicShatunov20104,857 European ancestry cases, 8,987 European ancestry controlsNR10.23 (AG)8E-10 NRNRIllumina [227,475]
rs38499429p21.2MOBKL2B,IFNK,C9orf72Laaksovirta2010405 Finnish cases, 497 Finnish controlsNRA0.169E-11  2.16[1.72-2.70]Illumina [318,167]
rs1304801921q22.11SOD1Laaksovirta2010405 Finnish cases, 497 Finnish controlsNRT0.173E-8  2.02[1.61-2.53]Illumina [318,167]
rs5937496Xq13.3NRvan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.136E-7  1.38[NR]Illumina [292,768]
rs28147079p21.2MOBKL2B, IFNK, C9orf72van Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.237E-9  1.22[NR]Illumina [292,768]
rs240565711q22.1NRvan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.663E-6  1.19[NR]Illumina [292,768]
rs38499429p21.2MOBKL2B, IFNK, C9orf72van Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.231E-8  1.23[NR]Illumina [292,768]
rs7743599p21.2NRvan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.253E-6  1.19[NR]Illumina [292,768]
rs997163712p12.3NRvan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.052E-6  1.48[NR]Illumina [292,768]
rs1260893219p13.11UNC13Avan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.343E-14  1.25[NR]Illumina [292,768]
rs5916687Xp22.32NRvan Es20092,323 European descent cases, 9,013 European descent controls2,532 European descent cases, 5,940 European descent controls?0.273E-6  1.22[NR]Illumina [292,768]
rs8559137q36.1ZNF746Landers20091,821 cases, 2,258 controls538 cases, 556 controlsANR4E-8(survival) 1.08[0.70-1.46] years olderIllumina [288,357]
rs15411601q24.2KIFAP3Landers20091,821 cases, 2,258 controls538 cases, 556 controlsCNR2E-8(survival) .58[0.38-0.78] years olderIllumina [288,357]
rs6977396p22.3ATXN1Landers20091,821 cases, 2,258 controls538 cases, 556 controlsANR4E-6(age of onset) 2.04[1.18-2.90] years youngerIllumina [288,357]
rs806685717q24.3SLC39A11Landers20091,821 cases, 2,258 controls538 cases, 556 controlsCNR8E-6(site of onset) 1.48[NR]Illumina [288,357]
rs77020575q23.1SEMA6ALanders20091,821 cases, 2,258 controls538 cases, 556 controlsA0.038E-6(site of onset) 2.05[NR]Illumina [288,357]
rs26195663p26.3CNTN4Landers20091,821 cases, 2,258 controls538 cases, 556 controlsGNR7E-6(age of onset) 3.03[1.71-4.35] years youngerIllumina [288,357]
rs130154472q24.3SCN7ALanders20091,821 cases, 2,258 controls538 cases, 556 controlsG0.347E-6(site of onset) 1.41[NR]Illumina [288,357]
rs168562021q42.2DISC1Landers20091,821 cases, 2,258 controls538 cases, 556 controlsC0.048E-6(susceptibilty) 2.00[NR]Illumina [288,357]
rs112417135q23.2CSNK1G3Landers20091,821 cases, 2,258 controls538 cases, 556 controlsTNR3E-6(survival) .79[0.46-1.12] years olderIllumina [288,357]
rs8739171p34.2NT5C1ALanders20091,821 cases, 2,258 controls538 cases, 556 controlsT0.298E-6(susceptibilty) 1.16[NR]Illumina [288,357]
rs75778942p16.1EFEMP1Landers20091,821 cases, 2,258 controls538 cases, 556 controlsT0.391E-6(site of onset) 1.41[NR]Illumina [288,357]
rs31779801q24.2SELLLanders20091,821 cases, 2,258 controls538 cases, 556 controlsGNR4E-6(survival) .51[0.46-0.56] years olderIllumina [288,357]
rs282396221q21.1NRLanders20091,821 cases, 2,258 controls538 cases, 556 controls?NR9E-6(survival)NRNRIllumina [288,357]
rs101923692q24.2RBMS1Landers20091,821 cases, 2,258 controls538 cases, 556 controlsT0.479E-6(susceptibilty) 1.17[NR]Illumina [288,357]
rs1043893318q12.1B4GALT6Landers20091,821 cases, 2,258 controls538 cases, 556 controlsG0.121E-6(susceptibilty) 1.30[NR]Illumina [288,357]
rs30999502p22.1NRLanders20091,821 cases, 2,258 controls538 cases, 556 controls?NR8E-6(survival)NRNRIllumina [288,357]
NRNRNRChio2009553 cases, 2,338 controls3,149 cases, 3,335 controlsNRNRNSNSNRNRIllumina [545,066]
rs102604047q36.2DPP6Cronin2008958 cases,932 controls309 cases,404 controlsC0.353E-6  1.37[1.20-1.56]Illumina[287,522]
PendingPendingPendingBlauw2008406 cases,404 controlsNRgPendingPendingPendingPendingPendingIllumina[317,503]
rs102604047q36.2DPP6van Es2007737 cases,721 controls1,030 cases,1,195 controlsC0.355E-8 1.30[1.18-1.43]Illumina[311,946]
rs382577615q22.1LIPCvan Es2007737 cases,721 controls1,030 cases,1,195 controls?0.299E-6 1.34[1.20-1.46]Illumina[311,946]
rs75803322p24.2Intergenicvan Es2007737 cases,721 controls1,030 cases,1,195 controls?0.459E-6 1.22[1.09-1.35]Illumina[311,946]
rs102604047q36.2DPP6Cronin2007221 cases,211 controls737 cases,721 controls?0.373E-6 1.37[1.20-1.56]Illumina[497,917]
rs230667712p11.23ITPR2van Es2007737 cases,721 controls1,030 cases,1,195 controls?0.073E-6  1.58[1.30-1.91]Illumina[311,946]
NRNRNRDunckley2007386 cases,542 controls901 cases,1,025 controlsNRNRNSNSNRNRAffymetrix and Illumina[776,955]
rs169842392p24.2IntergenicSchymick2007276 cases,276 controlsNR?NR2E-6  2.10[1.50-3.00]Illumina[549,062]
rs110998644q31.3KIAA1727Schymick2007276 cases,276 controlsNR?NR9E-6  1.00[0.80-1.40]Illumina[549,062]
rs601338220q13.2ZFP64Schymick2007276 cases,276 controlsNR?NR5E-6 1.43[1.11-1.67]Illumina[549,062]
rs126805468q24.2IntergenicSchymick2007276 cases,276 controlsNR?NR3E-6 1.67[1.25-2.00]Illumina[549,062]
rs27829319q31.3SUSD1Schymick2007276 cases,276 controlsNR?NR6E-6 1.11[0.91-1.43]Illumina[549,062]
rs436350610q26.2IntergenicSchymick2007276 cases,276 controlsNR?NR7E-7  1.90[1.50-2.40]Illumina[549,062]


HuGE Navigator - a GWAS Integrator

HuGE NAvigator is an integrated, searchable knowledge base of genetic associations and human genome epidemiology.

HGVbaseG2P v3.0 - a comprehensive GWAS database

HGVbaseG2P a comprehensive GWAS database, with powerful browser support for multi-study viewing and comparison.

ALSGene - a database for ALS genetic association studies

ALSGene database will provide a comprehensive, unbiased and regularly updated field synopsis of genetic association studies performed in ALS.