The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
Open accessAbstract
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 × 10−9. This SNP showed robust replication in the second cohort (P = 1.86 × 10−6), and a combined analysis over the two stages yielded P = 2.53 × 10−14. The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 × 10−9, and rs3849942, with P = 1.01 × 10−8) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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Self-citationThe International HapMap Project
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Self-citationMunc13-1 is essential for fusion competence of glutamatergic synaptic vesicles
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Metadata
- Authors
- van Es, M. A., Veldink, J. H., Saris, C. G. J., Blauw, H. M., van Vught, P. W. J., Birve, A., Lemmens, R., Schelhaas, H. J., Groen, E. J. N., Huisman, M. H. B., van der Kooi, A. J., de Visser, M., Dahlberg, C., Estrada, K., Rivadeneira, F., Hofman, A., Zwarts, M. J., van Doormaal, P. T. C., Rujescu, D., Strengman, E., Giegling, I., Muglia, P., Tomik, B., Slowik, A., Uitterlinden, A. G., Hendrich, C., Waibel, S., Meyer, T., Ludolph, A. C., Glass, J. D., Purcell, S., Cichon, S., Nöthen, M. M., Wichmann, H.-E., Schreiber, S., Vermeulen, S. H. H. M., Kiemeney, L. A., Wokke, J. H. J., Cronin, S., McLaughlin, R. L., Hardiman, O., Fumoto, K., Pasterkamp, R. J., Meininger, V., Melki, J., Leigh, P. N., Shaw, C. E., Landers, J. E., Al-Chalabi, A., Brown, R. H., Robberecht, W., Andersen, P. M., Ophoff, R. A., & van den Berg, L. H.
- Venue
- Nature Genetics
- Published
- 2009-09-06
- Volume
- 41
- Issue
- 10
- Pages
- 1083-1087
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1975262530
- Cited by
- 399
- References
- 7
- FWCI
- 21.00
- Type
- journal article
- Language
- en
- Open access
- green
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