Genetic comparison of a Croatian isolate and CEPH European founders (CROSBI ID 156113)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Navarro, Pau ; Vitart, Veronique ; Hayward, Caroline ; Tenesa, Albert ; Zgaga, Lina ; Juričićc, Danica ; Polašek, Ozren ; Hastie, Nick ; Rudan, Igor ; Campbell, Harry ; Wright, Alan ; Haley, Chris ; Knott, Sarah
engleski
Genetic comparison of a Croatian isolate and CEPH European founders
Human isolates have been postulated as a good resource for the identification of QTL due to reduced genetic diversity and a more homogeneous environment. Isolates may also have increased LD due to small effective population size and, either loss or increase in frequency of alleles that are rare in the general population from which they originate. Here we investigate the difference in allele and genotype frequencies, linkage disequilibrium and homozygous tracts between an isolate – several villages from the island of Vis in Croatia – and an outbred population of European origin: the Hapmap CEPH founders. Using the HumanHap300 v1 Genotyping BeadChip, we show that our population does not differ greatly from the reference CEU outbred population despite having a slightly higher proportion of monomorphic loci, a slightly higher long range LD, and a greater proportion of individuals with long homozygous tracts. We conclude that genotyping arrays should perform equally well in our isolate than in outbred European populations for disease mapping studies and that SNP-trait associations discovered in our well-characterized Croatian isolate should be valid in the general European population from which they descend.
linkage disequilibrium; mapping; population isolate
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Podaci o izdanju
Povezanost rada
Temeljne medicinske znanosti, Javno zdravstvo i zdravstvena zaštita