Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

0480925 - ÚEM 2018 RIV US eng J - Článek v odborném periodiku
Schormair, B. - Zhao, Ch. - Bell, S. - Tilch, E. - Salminen, A.V. - Putz, B. - Dauvilliers, Y. - Stefani, A. - Högl, B. - Poewe, W. - Kemlink, D. - Šonka, K. - Bachmann, C. G. - Paulus, W. - Trenkwalder, C. - Oertel, W. - Hornyak, M. - Teder-Laving, M. - Metspalu, A. - Hadjigeorgiou, G.M. - Polo, O. - Fietze, I. - Ross, O.A. - Wszolek, Z. - Butterworth, A.S. - Soranzo, N. - Ouwehand, W. H. - Roberts, D.J. - Danesh, J. - Allen, R.P. - Earley, Ch.J. - Ondo, W.G. - Xiong, L. - Montplaisir, J. - Gan-Or, Z. - Perola, M. - Vodička, Pavel - Dina, Ch. - Franke, A. - Tittmann, L. - Stewart, A.F.R. - Shah, S.H. - Gieger, Ch. - Peters, A. - Rouleau, G.A. - Berger, K. - Oexle, K. - Di Angelantonio, E. - Hinds, D.A. - Müller-Myhsok, B. - Winkelmann, J.
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
Lancet Neurology. Roč. 16, č. 11 (2017), s. 898-907. ISSN 1474-4422. E-ISSN 1474-4465
Institucionální podpora: RVO:68378041
Klíčová slova: spinal-cord * diagnostic-criteria * synapse development
Obor OECD: Biochemistry and molecular biology
Impakt faktor: 27.144, rok: 2017

We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1.92, 95% CI 1.85–1.99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Identification of new candidate genes and associated pathways will direct future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants, thus, additional studies are needed to dissect the roles of rare and structural variations.
Trvalý link: http://hdl.handle.net/11104/0276798