Analysis of European case-control studies suggests that common inherited variation in mitochondrial DNA is not involved in susceptibility to amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis

Volumn 13, Issue 4, 2012, Pages 341-346

  Ingram, Catherine J E ^a   Weale, Michael E ^b   Plaster, Christopher A ^a   Morrison, Karen E ^c,d   Goodall, Emily F ^e   Pall, Hardev S ^c,d   Beck, Marcus ^f   Jablonka, Sibylle ^f   Sendtner, Michael ^f   Fisher, Elizabeth M C ^g   Bradman, Neil ^a   Kasperavičiute, Dalia ^g  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

ALS; Association study; Genetics; Mitochondria; MtDNA

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE CONTROL STUDY; EFFECT SIZE; ENVIRONMENTAL FACTOR; FEMALE; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; POPULATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; COHORT STUDIES; DNA, MITOCHONDRIAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME, MITOCHONDRIAL; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84861593887     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2012.654394     Document Type: Article

References (33)

1. Piemonte and Valle d'Aosta Register for Amyotrophic Lateral Sclerosis (PARALS). Incidence of ALS in Italy: Evidence for a uniform frequency in Western countries. Neurology. 2009;56:239-244.
2. Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Incidence and prevalence of ALS in Ireland, 1995 - 1997: A population based study. Neurology. 1999;52:504-509.
3. Talbot K. Motor neuron disease. Postgrad Med J. 2002; 78:513-519.
4. Renton A, Majounie E, Waite A, Simón -Sán chez J, Rollinson S, Raphael Gibbs J, et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron. 2011;72:257-268.
5. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron. 2011;72:245-256.
6. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, et al. Genome-wide association study identifi es 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009;41: 1083-7.
7. Chio A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18:1524-1532.
8. Cronin S, Blauw HM, Veldink JH, van Es MA, Ophoff RA, Bradley DG, et al. Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum Mol Genet. 2008;17:3392-3398.
9. Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, et al. Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain. 2007; 130:2292-2301.
10. Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, van Vught PW, et. al. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet. 2009;18:472-481.
11. van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, et al. ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study. Lancet Neurol. 2007;6;869-77.
12. van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, van Den Bosch L, et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet. 2008;40:29-31.
13. Rothstein JD. Current hypotheses for the underlying biology of amyotrophic lateral sclerosis. Ann Neurol. 2009;65: S3 - 9.
14. Menzies FM, Ince PG, Shaw PJ. Mitochondrial involvement in amyotrophic lateral sclerosis. Neurochem Int. 2002;40: 543-51.
15. Manfredi G, Xu Z. Mitochondrial dysfunction and its role in motor neuron degeneration in ALS. Mitochondrion. 2005;5:77-87.
16. Duffy LM, Chapman AL, Shaw PJ, Grierson AJ. The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis. Neuropathol Appl Neurobiol. 2011;37:336-352.
17. Dupuis L, Gonzalez De Aguilar JL, Oudart H, De Tapia M, Barbeito L, Loeffl er JP. Mitochondria in amyotrophic lateral sclerosis: A trigger and a target. Neurodegener Dis. 2004;1: 245-54.
18. Bacman SR, Bradley WG, Moraes CT. Mitochondrial involvement in amyotrophic lateral sclerosis: Trigger or target? Mol Neurobiol. 2006;33:113-131.
19. Vielhaber S, Kunz D, Winkler K, Wiedemann FR, Kirches E, Feistner H, et al. Mitochondrial DNA abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis. Brain. 2000;123:1339-1348.
20. Wiedemann FR, Manfredi G, Mawrin C, Beal MF, Schon EA. Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. J Neurochem. 2002;80:616-625.
21. Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol. 1998;43:110-116.
22. Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, et al. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann Neurol. 2006;59:570-574.
23. Mancuso M., Conforti FL, Rocchi A, Tessitore A, Muglia M, Tedeschi G, et al. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neurosci Lett. 2004;371:158-162.
24. Chinnery PF, Mowbray C, Elliot H, Elson JL, Nixon H, Hartley J, et al. Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis. Neurogenetics. 2007;8: 65-7.
25. Gunnarsdottir ED, Li M, Bauchet M, Finstermeier K, Stoneking M. High-throughput sequencing of complete human mtDNA genomes from the Philippines. Genome Res. 2011;21:1-11.
26. Thomas MG, Weale ME, Jones AL, Richards M, Smith A, Redhead N, et al. Founding mothers of Jewish communities: Geographically separated Jewish groups were independently founded by very few female ancestors. Am J Hum Genet. 2002;70:1411-1420.
27. Behar DM, Rosset S, Blue-Smith J, Balanovsky O, Tzur S, Comas D, et al. The Genographic Project public participation mitochondrial DNA database. PLoS Genet. 2007; 3:e104.
28. Petkov PM, Ding Y, Cassell MA, Zhang W, Wagner G, Sargent EE, et al. An effi cient SNP system for mouse genome scanning and elucidating strain relationships. Genome Res. 2004;14:1806-1811.
29. Raymond M, Rousset F. An Exact Test for Population Differentiation. Evolution. 1995;49:1280-1283.
30. Excoffi er L, Laval G, Schneider S. Arlequin ver.3.0: An integrated software package for population genetics data analysis. Evol Bioinform Online. 2005;1:47-50.
31. Richards M, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, et al. Palaeolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet. 1996;59:185-203.
32. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, et al. The emerging tree of West Eurasian mtDNAs: A synthesis of control-region sequences and RFLPs. Am J Hum Genet. 1999;64:232-249.
33. van Oven M, Kayser M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat. 2009;30:386-394.