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Linkage and associa...
Linkage and association analysis of CACNG3 in childhood absence epilepsy
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Everett, K. V. (författare)
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Chioza, B. (författare)
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Aicardi, J. (författare)
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visa fler...
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Aschauer, H. (författare)
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Brouwer, O. (författare)
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Callenbach, P. (författare)
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Covanis, A. (författare)
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Dulac, O. (författare)
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- Eeg-Olofsson, Orvar (författare)
- Uppsala universitet,Pediatrik,Barnneurologisk forskning/Ahlsten
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Feucht, M. (författare)
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Friis, M. (författare)
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Goutieres, F. (författare)
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Guerrini, R. (författare)
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Heils, A. (författare)
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Kjeldsen, M. (författare)
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Lehesjoki, A. E. (författare)
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Makoff, A. (författare)
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Nabbout, R. (författare)
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- Olsson, Ingrid, 1948 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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Sander, T. (författare)
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Siren, A. (författare)
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McKeigue, P. (författare)
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Robinson, R. (författare)
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Taske, N. (författare)
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Rees, M. (författare)
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Gardiner, M. (författare)
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(creator_code:org_t)
- 2007-01-31
- 2007
- Engelska.
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
- Relaterad länk:
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https://www.nature.c...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
Nyckelord
- Calcium Channels/*genetics
- Calcium Channels
- T-Type/*genetics
- *Chromosome Mapping
- Chromosomes
- Human
- Pair 16/*genetics
- Epilepsy
- Absence/*genetics
- Female
- Genetic Markers/genetics
- *Genetic Predisposition to Disease
- Humans
- Linkage Disequilibrium/*genetics
- Male
- Microsatellite Repeats/genetics
- Pedigree
- Polymorphism
- Single Nucleotide
- Seizures
- absence epilepsy
- MEDICINE
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Everett, K. V.
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Chioza, B.
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Aicardi, J.
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Aschauer, H.
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Brouwer, O.
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Callenbach, P.
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visa fler...
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Covanis, A.
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Dulac, O.
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Eeg-Olofsson, Or ...
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Feucht, M.
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Friis, M.
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Goutieres, F.
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Guerrini, R.
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Heils, A.
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Kjeldsen, M.
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Lehesjoki, A. E.
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Makoff, A.
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Nabbout, R.
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Olsson, Ingrid, ...
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Sander, T.
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Siren, A.
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McKeigue, P.
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Robinson, R.
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Taske, N.
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Rees, M.
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Gardiner, M.
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visa färre...
- Artiklar i publikationen
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Eur J Hum Genet
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European Journal ...
- Av lärosätet
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Göteborgs universitet
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Uppsala universitet