Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Barry A. Chioza; Jean Aicardi; Harald Aschauer; Oebele Brouwer; Petra Callenbach; Athanasios Covanis; Joseph M. Dooley; Olivier Dulac; Martina Durner; Orvar Eeg-Olofsson; Martha Feucht; Mogens Laue Friis; Renzo Guerrini; Marianne Juel Kjeldsen; Rima Nabbout; Lina Nashef; Thomas Sander; Auli Sirén; Elaine Wirrell; Paul McKeigue; Robert Robinson; R. Mark Gardiner; Kate V. Everett

doi:10.1016/j.eplepsyres.2009.09.010

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Barry A. Chioza, Jean Aicardi, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Joseph M. Dooley, Olivier Dulac, Martina Durner, Orvar Eeg-Olofsson, Martha Feucht, Mogens Laue Friis, Renzo Guerrini, Marianne Juel Kjeldsen, Rima Nabbout, Lina Nashef, Thomas Sander, Auli Sirén, Elaine Wirrell, Paul McKeigueRobert Robinson, R. Mark Gardiner, Kate V. Everett

Medicine

Medicine

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27 Citas (Scopus)

Resumen

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z_mean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.

Idioma original	English
Páginas (desde-hasta)	247-255
Número de páginas	9
Publicación	Epilepsy Research
Volumen	87
N.º	2-3
DOI	https://doi.org/10.1016/j.eplepsyres.2009.09.010
Estado	Published - dic. 2009

Nota bibliográfica

Funding Information:
This work was supported by the MRC (UK) , Wellcome Trust, Action Medical Research and Epilepsy Research UK . We are very grateful to the families for participating in this study and to all our collaborating clinicians, including Drs Anna-Elina Lehesjoki, Andrew Makoff and Ingrid Olsson. We would like to thank Généthon for their assistance in collecting the French samples. Austrian financial support came from the Austrian Research Foundation (awarded to Harald Aschauer, MD), grant number P10460-MED. Thomas Sander, MD, was awarded a grant by the German National Genome Research Network (NGFNplus EMINet: 01GS08120). Dutch financial support came from the Netherlands Organisation for Health, Research and Development (ZonMW, 940-33-030) and the Dutch National Epilepsy Fund – ‘The power of the small’ (NEF – ‘De macht van het kleine’). Danish support (Mogens Friis, MD, and Marianne Kjeldsen, MD) came from the NINDS grant (NS-31564).

ASJC Scopus Subject Areas

Neurology
Clinical Neurology

PubMed: MeSH publication types

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

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10.1016/j.eplepsyres.2009.09.010

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Chioza, B. A., Aicardi, J., Aschauer, H., Brouwer, O., Callenbach, P., Covanis, A., Dooley, J. M., Dulac, O., Durner, M., Eeg-Olofsson, O., Feucht, M., Friis, M. L., Guerrini, R., Kjeldsen, M. J., Nabbout, R., Nashef, L., Sander, T., Sirén, A., Wirrell, E., ... Everett, K. V. (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Research, 87(2-3), 247-255. https://doi.org/10.1016/j.eplepsyres.2009.09.010

Chioza, BA, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dooley, JM, Dulac, O, Durner, M, Eeg-Olofsson, O, Feucht, M, Friis, ML, Guerrini, R, Kjeldsen, MJ, Nabbout, R, Nashef, L, Sander, T, Sirén, A, Wirrell, E, McKeigue, P, Robinson, R, Gardiner, RM & Everett, KV 2009, 'Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14', Epilepsy Research, vol. 87, n.º 2-3, pp. 247-255. https://doi.org/10.1016/j.eplepsyres.2009.09.010

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title = "Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14",

abstract = "Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Zmean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.",

author = "Chioza, {Barry A.} and Jean Aicardi and Harald Aschauer and Oebele Brouwer and Petra Callenbach and Athanasios Covanis and Dooley, {Joseph M.} and Olivier Dulac and Martina Durner and Orvar Eeg-Olofsson and Martha Feucht and Friis, {Mogens Laue} and Renzo Guerrini and Kjeldsen, {Marianne Juel} and Rima Nabbout and Lina Nashef and Thomas Sander and Auli Sir{\'e}n and Elaine Wirrell and Paul McKeigue and Robert Robinson and Gardiner, {R. Mark} and Everett, {Kate V.}",

note = "Funding Information: This work was supported by the MRC (UK) , Wellcome Trust, Action Medical Research and Epilepsy Research UK . We are very grateful to the families for participating in this study and to all our collaborating clinicians, including Drs Anna-Elina Lehesjoki, Andrew Makoff and Ingrid Olsson. We would like to thank G{\'e}n{\'e}thon for their assistance in collecting the French samples. Austrian financial support came from the Austrian Research Foundation (awarded to Harald Aschauer, MD), grant number P10460-MED. Thomas Sander, MD, was awarded a grant by the German National Genome Research Network (NGFNplus EMINet: 01GS08120). Dutch financial support came from the Netherlands Organisation for Health, Research and Development (ZonMW, 940-33-030) and the Dutch National Epilepsy Fund – {\textquoteleft}The power of the small{\textquoteright} (NEF – {\textquoteleft}De macht van het kleine{\textquoteright}). Danish support (Mogens Friis, MD, and Marianne Kjeldsen, MD) came from the NINDS grant (NS-31564). ",

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T1 - Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

AU - Chioza, Barry A.

AU - Aicardi, Jean

AU - Aschauer, Harald

AU - Brouwer, Oebele

AU - Callenbach, Petra

AU - Covanis, Athanasios

AU - Dooley, Joseph M.

AU - Dulac, Olivier

AU - Durner, Martina

AU - Eeg-Olofsson, Orvar

AU - Feucht, Martha

AU - Friis, Mogens Laue

AU - Guerrini, Renzo

AU - Kjeldsen, Marianne Juel

AU - Nabbout, Rima

AU - Nashef, Lina

AU - Sander, Thomas

AU - Sirén, Auli

AU - Wirrell, Elaine

AU - McKeigue, Paul

AU - Robinson, Robert

AU - Gardiner, R. Mark

AU - Everett, Kate V.

N1 - Funding Information: This work was supported by the MRC (UK) , Wellcome Trust, Action Medical Research and Epilepsy Research UK . We are very grateful to the families for participating in this study and to all our collaborating clinicians, including Drs Anna-Elina Lehesjoki, Andrew Makoff and Ingrid Olsson. We would like to thank Généthon for their assistance in collecting the French samples. Austrian financial support came from the Austrian Research Foundation (awarded to Harald Aschauer, MD), grant number P10460-MED. Thomas Sander, MD, was awarded a grant by the German National Genome Research Network (NGFNplus EMINet: 01GS08120). Dutch financial support came from the Netherlands Organisation for Health, Research and Development (ZonMW, 940-33-030) and the Dutch National Epilepsy Fund – ‘The power of the small’ (NEF – ‘De macht van het kleine’). Danish support (Mogens Friis, MD, and Marianne Kjeldsen, MD) came from the NINDS grant (NS-31564).

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N2 - Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Zmean = 3.9, p < 0.0001; HLOD = 3.3, α = 0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.

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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Resumen

Nota bibliográfica

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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