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Subject: PubMed abstract: autosomal SNPs common in the Irish
Date: Wed, 23 Aug 2006 11:32:00 EDT


Note: the article mentions that cystic fibrosis has a relatively high
frequency in Ireland. There are actually hundreds of different mutations in the
cystic fibrosis gene, which have arisen in different parts of the world. Two people
with a diagnosis of cystic fibrosis may not have inherited it via a common
ancestor -- you need to know if they share a specific mutation. Cystic fibrosis
is one of the conditions discussed in an important article "Founder Mutations"
(Scientific American Oct 2005). The carrier state may have some selective
advantage in protection from diarrheal diseases.

The provisional PDF (not yet formatted as it will appear in the printed
journal) can be downloaded

http://genomebiology.com/content/pdf/gb-2006-7-8-r74.pdf

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Genome Biol. 2006 Aug 11;7(8):R74 [Epub ahead of print]

A genome-wide approach to identify genetic loci with a signature of natural
selection in the Irish population.

Mattiangeli V, Ryan AW, McManus R, Bradley DG.

ABSTRACT: BACKGROUND: In this study we present a single population test
(Ewens-Watterson) applied in a genomic context to investigate the presence of
recent positive selection in the Irish population. The Irish population is an
interesting focus for the investigation of recent selection since several lines of
evidence suggest that it may have a relatively undisturbed genetic heritage.
RESULTS: We first identify outlier SNPs, from previously published genome-wide
data, with high FST branch specification in a European-American population.
Eight of these were chosen for further analysis. Evidence for selective history
was assessed using the Ewens-Watterson's statistic calculated using Irish
genotypes of microsatellites flanking the eight outlier SNPs. Evidence suggestive
of selection was detected in three of these by comparison with a
population-specific genome-wide empirical distribution of the Ewens-Watterson's statistic.
CONCLUSIONS: The cystic fibrosis gene, a disease which has a world maximum
frequency in Ireland, was among the genes showing evidence of selection. In
addition to the demonstrated utility in detecting a signature of natural selection,
this approach has the particular advantage of speed. It also illustrated
concordance between results drawn from alternative methods implemented in
different populations.

PMID: 16904005 [PubMed - as supplied by publisher]

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Ann Turner


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