http://www.cnr.it/ontology/cnr/individuo/prodotto/ID12189
Linkage disequilibrium patterns and tagSNP transferability among European populations. (Articolo in rivista)
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- Label
- Linkage disequilibrium patterns and tagSNP transferability among European populations. (Articolo in rivista) (literal)
- Anno
- 2005-01-01T00:00:00+01:00 (literal)
- Alternative label
Mueller JC., Lohmussaar E.,Magi R., Remm M., Bettecken T., LichtnerP ., Biskup S., Illig T., Pfeufer A., Luedemann J.,Schreiber S.,Pramstaller P., Pichler I., Romeo G., Gaddi A.,Testa A. (2005)
Linkage disequilibrium patterns and tagSNP transferability among European populations.
in American journal of human genetics
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- Mueller JC., Lohmussaar E.,Magi R., Remm M., Bettecken T., LichtnerP ., Biskup S., Illig T., Pfeufer A., Luedemann J.,Schreiber S.,Pramstaller P., Pichler I., Romeo G., Gaddi A.,Testa A. (literal)
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- Rivista
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- ISI Web of Science (WOS) (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
- 1. GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, Germany
2. GSF, Natl Res Ctr Environm & Hlth, Inst Epidemiol, D-85764 Neuherberg, Germany
3. CNR, CNR IBIM, Inst Biomed Clin Epidemiol & Physiopathol Renal D, Reggio Di Calabria, Italy
4. Univ Bologna, Dept Clin Med, Ctr Artherosclerosi Giancarlo Descovich, Bologna, Italy
5. Univ Bologna, Dept Med Genet, Bologna, Italy
6. European Acad, Dept Med Genet, Bolzano, Italy
7. Univ Kiel, Univ Clin Schleswig Holstein, Inst Clin Mol Biol, Kiel, Germany
8. Univ Greifswald, Inst Clin Chem & Lab Med, Greifswald, Germany
9. Tech Univ Munich, Inst Human Genet, D-8000 Munich, Germany
10. Univ Tartu, Estonian Bioctr, Inst Mol & Cell Biol, EE-50090 Tartu, Estonia (literal)
- Titolo
- Linkage disequilibrium patterns and tagSNP transferability among European populations. (literal)
- Abstract
- The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are
identified by allelic association with adjacent markers. The aim of this study is to compare the LD patterns in
several distinct European populations. We analyzed four genomic regions (in total, 749 kb) containing candidate
genes for complex traits. Individuals were genotyped for markers that are evenly distributed at an average spacing
of ~2-4 kb in eight population-based samples from ongoing epidemiological studies across Europe. The Centre
d'Etude du Polymorphisme Humain (CEPH) trios of the HapMap project were included and were used as a reference
population. In general, we observed a conservation of the LD patterns across European samples. Nevertheless,
shifts in the positions of the boundaries of high-LD regions can be demonstrated between populations, when assessed
by a novel procedure based on bootstrapping. Transferability of LD information among populations was also tested.
In two of the analyzed gene regions, sets of tagging single-nucleotide polymorphisms (tagSNPs) selected from the
HapMap CEPH trios performed surprisingly well in all local European samples. However, significant variation in
the other two gene regions predicts a restricted applicability of CEPH-derived tagging markers. Simulations based
on our data set show the extent to which further gain in tagSNP efficiency and transferability can be achieved by
increased SNP density. (literal)
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