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MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.

Authors :
Schormair, Barbara
Plag, Jens
Kaffe, Maria
Groβ, Nadine
Czamara, Darina
Samtleben, Walter
Lichtner, Peter
Ströhle, Andreas
Stefanidis, Ioannis
Vainas, Andreas
Dardiotis, Efthimios
Sakkas, George K.
Gieger, Christian
Müller-Myhsok, Bertram
Meitinger, Thomas
Heemann, Uwe
Hadjigeorgiou, Georgios M.
Oexle, Konrad
Winkelmann, Juliane
Source :
Journal of Medical Genetics; Jul2011, Vol. 48 Issue 7, p462-466, 5p, 2 Charts
Publication Year :
2011

Abstract

Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease (ESRD). For idiopathic RLS (iRLS), genetic risk factors have been identified, but their role in RLS in ESRD has not been investigated yet. Therefore, a case-control association study of these variants in ESRD patients was performed. Methods: The study genotyped 10 iRLS associated variants at four loci encompassing the genes MEIS1, BTBD9, MAP2K5/SKOR1, and PTPRD, in two independent case-control samples from Germany and Greece using multiplex PCR and MALDI-TOF (matrix assisted laser desorption/ionisation time-of-flight) mass spectrometry. Statistical analysis was performed as logistic regression with age and gender as covariates. For the combined analysis a Cochran-Mantel-Haenszel test was applied. Results: The study included 200 RLS-positive and 443 RLS-negative ESRD patients in the German sample, and 141 and 393 patients, respectively, in the Greek sample. In the German sample, variants in MEIS1 and BTBD9 were associated with RLS in ESRD (P<subscript>nom</subscript> ⩽0.004, ORs 1.52 and 1.55), whereas, in the Greek sample, there was a trend for association to MAP2K5/SKOR1 and BTBD9 (P<subscript>nom</subscript> ⩽0.08, ORs 1.41 and 1.33). In the combined analysis including all samples, BTBD9 was associated after correction for multiple testing (P<subscript>corrected</subscript>=0.0013, OR 1.47). Conclusions: This is the first demonstration of a genetic influence on RLS in ESRD patients with BTBD9 being significantly associated. The extent of the genetic predisposition could vary between different subgroups of RLS in ESRD. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00222593
Volume :
48
Issue :
7
Database :
Complementary Index
Journal :
Journal of Medical Genetics
Publication Type :
Academic Journal
Accession number :
64838698
Full Text :
https://doi.org/10.1136/jmg.2010.087858