Journal Article


Gianpiero L Cavalleri
Norman Delanty
Derek W Morris
Aiden P Corvin
Michael Gill
Sanjay M Sisodiya
David Hosford
Rachel A Gibson
Anne-Mari Kantanen
Kai Eriksson
and 6 others



genetics epilepsy ireland genetics population multifactorial inheritance humans chromosome mapping polymorphism single nucleotide linkage disequilibrium gene frequency haplotypes

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases. (2007)

Abstract The 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.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Gianpiero L Cavalleri, Norman Delanty, Derek W Morris, Aiden P Corvin, Michael Gill, Sanjay M Sisodiya, David Hosford, Rachel A Gibson, Anne-Mari Kantanen, Kai Eriksson and 6 others

Experts in our system

Gianpiero L Cavalleri
Royal College of Surgeons in Ireland
Total Publications: 35
Norman Delanty
Royal College of Surgeons in Ireland
Total Publications: 49
Derek Morris
Trinity College Dublin
Total Publications: 168
Aiden Corvin
Trinity College Dublin
Total Publications: 218
Michael Gill
Trinity College Dublin
Total Publications: 294
Sanjay M Sisodiya
Royal College of Surgeons in Ireland
Total Publications: 13