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 linkage disequilibrium (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, LD 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 as 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.
Navarro
Pau
P
Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK. Pau.Navarro@hgu.mrc.ac.uk
Vitart
Véronique
V
Hayward
Caroline
C
Tenesa
Albert
A
Zgaga
Lina
L
Juricic
Danica
D
Polasek
Ozren
O
Hastie
Nicholas D
ND
Rudan
Igor
I
Campbell
Harry
H
Wright
Alan F
AF
Haley
Chris S
CS
Knott
Sara A
SA
D002874:Chromosome Mapping / Q000379:methods; D017523:Croatia; D018703:Founder Effect; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008957:Models, Genetic; D015233:Models, Statistical; D040641:Quantitative Trait Loci; D014589:Utah; D044465:White People / Q000235:genetics*
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