The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
An estimate of amyotrophic lateral sclerosis heritability using twin data
Open accessAbstract
BACKGROUND: Causative gene mutations have been identified in about 2% of those with amyotrophic lateral sclerosis (ALS), often, but not always, when there is a strong family history. There is an assumption that there is a genetic component to all ALS, but genome-wide association studies have yet to produce a robustly replicated result. A definitive estimate of ALS heritability is therefore required to determine whether ongoing efforts to find susceptibility genes are worth while. METHODS: The authors performed two twin studies, one population- and one clinic-based. The authors used structural equation modelling to perform a meta-analysis of data from these studies and an existing twin study to estimate ALS heritability, and identified 171 twin pairs in which at least one twin had ALS. RESULTS AND DISCUSSION: Five monozygotic twin pairs were concordant-affected, and 44 discordant-affected. No dizygotic twin pairs were concordant-affected, and 122 discordant-affected. The heritability of sporadic ALS was estimated as 0.61 (0.38 to 0.78) with the unshared environmental component 0.39 (0.22 to 0.62). ALS has a high heritability, and efforts to find causative genes should continue.
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Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
Self-citationMutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Vance, C., Rogelj, B., Hortobágyi, T., De Vos, K. J., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B., Ruddy, D., Wright, P., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,564
Self-citationMutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J., Kasarskis, E. J., Munsat, T., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,553
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics · doi:10.1038/ng.132 · Cited by 1,544
Mutations of optineurin in amyotrophic lateral sclerosis
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., et al. (2010) · Nature · doi:10.1038/nature08971 · Cited by 1,265
Rosen, D. (1993) · Nature · doi:10.1038/364362c0 · Cited by 922
Nishimura, A. L., Mitne-Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R. M., Gillingwater, T., Webb, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425287 · Cited by 880
The Swedish Twin Registry: a unique resource for clinical, epidemiological and genetic studies
Lichtenstein, P., De faire, U., Floderus, B., Svartengren, M., Svedberg, P., & Pedersen, N. L. (2002) · Journal of Internal Medicine · doi:10.1046/j.1365-2796.2002.01032.x · Cited by 696
Cited by
The epidemiology of ALS: a conspiracy of genes, environment and time
Al-Chalabi, A., & Hardiman, O. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.203 · Cited by 894
Self-citationClinical genetics of amyotrophic lateral sclerosis: what do we really know?
Andersen, P. M., & Al-Chalabi, A. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.150 · Cited by 687
Self-citationRisk factors for amyotrophic lateral sclerosis
Fang, F., Ingre, C., Roos, P., Kamel, F., & Piehl, F. (2015) · Clinical Epidemiology · doi:10.2147/clep.s37505 · Cited by 462
Self-citationThe genetics and neuropathology of amyotrophic lateral sclerosis
Al-Chalabi, A., Jones, A., Troakes, C., King, A., Al-Sarraj, S., & van den Berg, L. H. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-1022-4 · Cited by 398
Self-citationAmyotrophic lateral sclerosis: moving towards a new classification system
Al-Chalabi, A., Hardiman, O., Kiernan, M. C., Chiò, A., Rix-Brooks, B., & van den Berg, L. H. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30199-5 · Cited by 390
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Metadata
- Authors
- Al-Chalabi, A., Fang, F., Hanby, M. F., Leigh, P. N., Shaw, C. E., Ye, W., & Rijsdijk, F.
- Venue
- Journal of Neurology, Neurosurgery & Psychiatry
- Publisher
- BMJ
- Published
- 2010-09-22
- Volume
- 81
- Issue
- 12
- Pages
- 1324-1326
- ISSN
- 0022-3050 (ISSN-L)
- OpenAlex
- W2116149846
- Cited by
- 323
- References
- 21
- FWCI
- 6.77
- Type
- journal article
- Language
- en
- Open access
- hybrid
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