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  Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome Restless Legs Syndrome

Schulte, E. C., Schramm, K., Schurmann, C., Lichtner, P., Herder, C., Roden, M., et al. (2014). Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome Restless Legs Syndrome. PLOS ONE, 9(5): e98092. doi:10.1371/journal.pone.0098092.

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Schulte, Eva C.1, Author
Schramm, Katharina1, Author
Schurmann, Claudia1, Author
Lichtner, Peter1, Author
Herder, Christian1, Author
Roden, Michael1, Author
Gieger, Christian1, Author
Peters, Annette1, Author
Trenkwalder, Claudia1, Author
Hoegl, Birgit1, Author
Frauscher, Birgit1, Author
Berger, Klaus1, Author
Fietze, Ingo1, Author
Gross, Nadine1, Author
Stiasny-Kolster, Karin1, Author
Oertel, Wolfgang1, Author
Bachmann, Cornelius G.1, Author
Paulus, Walter1, Author
Zimprich, Alexander1, Author
Voelzke, Henry1, Author
Schminke, Ulf1, AuthorNauck, Matthias1, AuthorIllig, Thomas1, AuthorMeitinger, Thomas1, AuthorMüller-Myhsok, Bertram2, Author           Prokisch, Holger1, AuthorWinkelmann, Juliane1, Author more..
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1external, ou_persistent22              
2Dept. Translational Research in Psychiatry, Max Planck Institute of Psychiatry, Max Planck Society, ou_2035295              

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 Abstract: Restless legs syndrome (RLS) is a common neurologic disorder characterized by nightly dysesthesias affecting the legs primarily during periods of rest and relieved by movement. RLS is a complex genetic disease and susceptibility factors in six genomic regions have been identified by means of genome-wide association studies (GWAS). For some complex genetic traits, expression quantitative trait loci (eQTLs) are enriched among trait-associated single nucleotide polymorphisms (SNPs). With the aim of identifying new genetic susceptibility factors for RLS, we assessed the 332 best-associated SNPs from the genome-wide phase of the to date largest RLS GWAS for cis-eQTL effects in peripheral blood from individuals of European descent. In 740 individuals belonging to the KORA general population cohort, 52 cis-eQTLs with p(nominal) < 10(-3) were identified, while in 976 individuals belonging to the SHIP-TREND general population study 53 cis-eQTLs with p(nominal) < 10(-3) were present. 23 of these cis-eQTLs overlapped between the two cohorts. Subsequently, the twelve of the 23 cis-eQTL SNPs, which were not located at an already published RLS-associated locus, were tested for association in 2449 RLS cases and 1462 controls. The top SNP, located in the DET1 gene, was nominally significant (p < 0.05) but did not withstand correction for multiple testing (p = 0.42). Although a similar approach has been used successfully with regard to other complex diseases, we were unable to identify new genetic susceptibility factor for RLS by adding this novel level of functional assessment to RLS GWAS data.

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Language(s): eng - English
 Dates: 2014-05-29
 Publication Status: Published online
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Title: PLOS ONE
Source Genre: Journal
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Publ. Info: PLOS
Pages: - Volume / Issue: 9 (5) Sequence Number: e98092 Start / End Page: - Identifier: ISSN: 1932-6203