Show simple item record

dc.contributor.authorCORVIN, AIDEN
dc.contributor.authorGILL, MICHAEL
dc.contributor.authorMORRIS, DEREK WILLIAMS
dc.contributor.authorO'DUSHLAINE, COLM
dc.date.accessioned2009-11-20T12:29:45Z
dc.date.available2009-11-20T12:29:45Z
dc.date.issued2008
dc.date.submitted2008en
dc.identifier.citationO'Dushlaine, C. T., Dolan, C., Weale, M. E., Stanton, A., Croke, D. T., Kalviainen, R., Eriksson, K., Kantanen, A. M., Gibson, R. A., Hosford, D., Sisodiya, S. M., Gill, M., Corvin, A. P., Morris, D. W., Delanty, N., Cavalleri, G. L. `An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases? in European Journal of Human Genetics, 16, 2, 2008, pp 176 - 183en
dc.identifier.otherY
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/34806
dc.descriptionPUBLISHEDen
dc.description.abstractThe recent completion of the International HapMap Project has rapidly advanced our understanding of linkage disequilibrium (LD) in the human genome. Today, tagging SNPs (tSNPs) can be quickly and easily selected and consequently HapMap data are regularly applied to both small- and large-scale genetic mapping studies. However, to correctly interpret the application of HapMap-derived tSNPs in a genetic mapping study, an understanding of how well HapMap data represents LD in the study population is critical. The Irish population had not previously been characterised in this way. Here, we do so using a set of 4424 SNPs selected from 279 candidate genes for epilepsy genotyped across 1118 healthy individuals from the Irish, British, Finnish and Australian populations. By considering the Irish population alongside surrounding European populations, our results confirm that the HapMap European-derived population accurately estimates patterning of LD in European descent populations. The Irish population appears notably well matched to the European HapMap population, and is markedly similar to the neighbouring British population. Although we were unable to detect significant substructure within the Irish population (a favourable result for genetic mapping), methods for controlling stratification should always be incorporated. This analysis therefore confirms that the genetic architecture of the Irish population is well suited to the study of complex traits and that tSNPs selected using the HapMap data can be confidently applied to the Irish population.en
dc.description.sponsorshipThis work was partly supported by PRTLI3 (ND, CD,GLC) and a MRC grant (SMS, DBG). The work was partly undertaken at UCLH/UCL who received a proportion of funding from the UK Department of Health's NIHR Biomedical Research Centre's funding scheme. GSK Research and Development provided funding for the recruitment of the Finnish subjects.en
dc.format.extent176en
dc.format.extent183en
dc.format.extent6432888 bytes
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.ispartofseriesEuropean Journal of Human Geneticsen
dc.relation.ispartofseries16en
dc.relation.ispartofseries2en
dc.rightsYen
dc.subjectgenetic mapping, tagging SNPs, tag transferability, linkage disequilibrium, structureen
dc.titleAn assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseasesen
dc.typeJournal Articleen
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/odushlac
dc.identifier.rssinternalid49077
dc.identifier.rssurihttp://dx.doi.org/10.1038/sj.ejhg.5201938


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record