NDLI: Caution in Interpreting Results from Imputation Analysis When Linkage Disequilibrium Extends over a Large Distance: A Case Study on Venous Thrombosis

Content Provider	PubMed Central
Author	Germain, Marine Saut, Noémie Tiphaine, Oudot-mellakh Luc, Letenneur Dupuy, Anne-marie Bertrand, Marion Alessi, Marie-christine Lambert, Jean-charles Zelenika, Diana Emmerich, Joseph Laurence, Tiret Francois, Cambien Lathrop, Mark Philippe, Amouyel Morange, Pierre-emmanuel Trégouët, David-alexandre
Editor	Li, Yun
Copyright Year	2012
Abstract	By applying an imputation strategy based on the 1000 Genomes project to two genome-wide association studies (GWAS), we detected a susceptibility locus for venous thrombosis on chromosome 11p11.2 that was missed by previous GWAS analyses that had been conducted on the same datasets. A comprehensive linkage disequilibrium and haplotype analysis of the whole locus where twelve SNPs exhibited association p-values lower than 2.23 10−11 and the use of independent case-control samples demonstrated that the culprit variant was a rare variant located ∼1 Mb away from the original hits, not tagged by current genome-wide genotyping arrays and even not well imputed in the original GWAS samples. This variant was in fact the rs1799963, also known as the FII G20210A prothrombin mutation. This work may be of major interest not only for its scientific impact but also for its methodological findings.
Related Links	http://dx.doi.org/10.1371/journal.pone.0038538
Starting Page	38538
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	6
Volume Number	7
Language	English
Publisher	Public Library of Science
Publisher Date	2012-06-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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