Evidence map›Paper›PMID 19935831›Full record

ArticleEuropean journal of human genetics : EJHG2010

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami.

Jeroen R Huyghe, Erik Fransen, Samuli Hannula, Lut Van Laer, Els Van Eyken, Elina Mäki-Torkko, Alana Lysholm-Bernacchi, Pekka Aikio, Dietrich A Stephan, Martti Sorri and 2 more

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Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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5 · Who and what money

Authors and funding

12 authors.

Jeroen R HuygheDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Erik Fransen
Samuli Hannula
Lut Van Laer
Els Van Eyken
Elina Mäki-Torkko
Alana Lysholm-Bernacchi
Pekka Aikio
Dietrich A Stephan
Martti Sorri
Matthew J Huentelman
Guy Van Camp

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Saami from Fennoscandia are believed to represent an ancient, genetically isolated population with no evidence of population expansion. Theoretical work has indicated that under this demographic scenario, extensive linkage disequilibrium (LD) is generated by genetic drift. Therefore, it has been suggested that the Saami would be particularly suited for genetic association studies, offering a substantial power advantage and allowing more economic study designs. However, no study has yet assessed this claim. As part of a GWAS for a complex trait, we evaluated the relative power for association studies of common variants in the Finnish Saami. LD patterns in the Saami were very similar to those in the non-African HapMap reference panels. Haplotype diversity was reduced and, on average, levels of LD were higher in the Saami as compared with those in the HapMap panels. However, using a 'hidden' SNP approach we show that this does not translate into a power gain in association studies. Contrary to earlier claims, we show that for a given set of common SNPs, genomic coverage attained in the Saami is similar to that in the non-African HapMap panels. Nevertheless, the reduced haplotype diversity could potentially facilitate gene identification, especially if multiple rare variants play a role in disease etiology. Our results further indicate that the HapMap is a useful resource for genetic studies in the Saami.

Indexed as

AgedChromosomes, Human, Pair 18EthnicityFinlandGene FrequencyGenetic Association StudiesGenome, HumanHaplotypesHumansLinkage DisequilibriumMiddle AgedPolymorphism, Single NucleotideWhite People

Identifiers

PMID19935831
PMCPMC2987317

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.