Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study

The Lancet Neurology

Volumn 9, Issue 10, 2010, Pages 978-985

  Laaksovirta, Hannu ^a   Peuralinna, Terhi ^a   Schymick, Jennifer C ^b   Scholz, Sonja W ^b,c   Lai, Shaoi Lin ^d   Myllykangas, Liisa ^e   Sulkava, Raimo ^f   Jansson, Lilja ^a   Hernandez, Dena G ^b   Gibbs, J Raphael ^b   Nalls, Michael A ^b   Heckerman, David ^g   Tienari, Pentti J ^a   Traynor, Bryan J ^b,h  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHANG GUNG UNIVERSITY   (Taiwan)

^e UNIVERSITY OF HELSINKI   (Finland)

^f UNIVERSITY OF EASTERN FINLAND   (Finland)

^g MICROSOFT RESEARCH   (United States)

^h JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SUPEROXIDE DISMUTASE; COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 21Q; CHROMOSOME 9P; CHROMOSOME 9P21; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; FINLAND; FRONTOTEMPORAL DEMENTIA; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 9; COHORT ANALYSIS; COMPARATIVE STUDY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PROCEDURES; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CHROMOSOMES, HUMAN, PAIR 9; COHORT STUDIES; FEMALE; FINLAND; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SUPEROXIDE DISMUTASE; YOUNG ADULT;

EID: 77956876046     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(10)70184-8     Document Type: Article

References (33)

1. Rowland LP, Shneider NA Amyotrophic lateral sclerosis. N Engl J Med 2001, 344:1688-1700.
2. Chiò A, Schymick JC, Restagno G, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009, 18:1524-1532.
3. Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007, 6:322-328.
4. Cronin S, Berger S, Ding J, et al. A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 2008, 17:768-774.
5. Dunckley T, Huentelman MJ, Craig DW, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 2007, 357:775-788.
6. van Es MA, Van Vught PW, Blauw HM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol 2007, 6:869-877.
7. van Es MA, van Vught PW, Blauw HM, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008, 40:29-31.
8. Landers JE, Melki J, Meininger V, et al. Reduced expression of the kinesin-associated protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2009, 106:9004-9009.
9. van Es MA, Veldink JH, Saris CG, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 40:29-31.
10. Shifman S, Darvasi A The value of isolated populations. Nat Genet 2001, 28:309-310.
11. Cronin S, Hardiman O, Traynor BJ Ethnic variation in the incidence of ALS: a systematic review. Neurology 2007, 68:1002-1007.
12. Murros K, Fogelholm R Amyotrophic lateral sclerosis in middle-Finland: an epidemiological study. Acta Neurol Scand 1983, 67:41-47.
13. Kere J Human population genetics: lessons from Finland. Annu Rev Genomics Hum Genet 2001, 2:103-128.
14. Peltonen L, Jalanko A, Varilo T Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999, 8:1913-1923.
15. Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995, 10:61-66.
16. Brooks BR El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994, 124(suppl):96-107. for the Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial " Clinical limits of amyotrophic lateral sclerosis" workshop contributors.
17. Polvikoski T, Sulkava R, Myllykangas L, et al. Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study. Neurology 2001, 56:1690-1696.
18. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
19. Barrett JC, Fry B, Maller J, Daly MJ Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
20. Walter SD Calculation of attributable risks from epidemiological data. Int J Epidemiol 1978, 7:175-182.
21. Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006, 129:868-876.
22. Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66:839-844.
23. Valdmanis PN, Dupre N, Bouchard JP, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 2007, 64:240-245.
24. Luty AA, Kwok JB, Thompson EM, et al. Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008, 8:32.
25. Le Ber I, Camuzat A, Berger E, et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 2009, 72:1669-1676.
26. Boxer AL, Mackenzie IR, Boeve BF, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked frontotemporal dementia-ALS family. J Neurol Neurosurg Psychiatry 2010, published online June 20. 10.1136/jnnp.2009.204081.
27. Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010, published online Aug 31. 10.1016/S1474-4422(10)70197-6.
28. Anttonen AK, Metzidis A, Avela K, Aula P, Peltonen L Finnish disease database (accessed June 7, 2010). http://www.findis.org/main.php?action=disease.
29. Sorenson EJ, Mandrekar J, Crum B, Stevens JC Effect of referral bias on assessing survival in ALS. Neurology 2007, 68:600-602.
30. Luca D, Ringquist S, Klei L, et al. On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. Am J Hum Genet 2008, 82:453-463.
31. Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010, 42:234-239.
32. Ince PG, Lowe J, Shaw PJ Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol 1998, 24:104-117.
33. Gislason TB, Sjögren M, Larsson L, Skoog I The prevalence of frontal variant frontotemporal dementia and the frontal lobe syndrome in a population based sample of 85 year olds. J Neurol Neurosurg Psychiatry 2003, 74:867-871.