Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome

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dc.authoridPercin, Ferda Emriye/0000-0001-9317-8155
dc.authoridINAN, levent ertugrul/0000-0002-2441-0624
dc.contributor.authorErgun, Ufuk
dc.contributor.authorSay, Bahar
dc.contributor.authorErgun, Sezen Guntekin
dc.contributor.authorPercin, Ferda Emriye
dc.contributor.authorInan, Levent
dc.contributor.authorKaygisiz, Sukran
dc.contributor.authorAsal, Pinar Gelener
dc.date.accessioned2025-01-21T16:41:20Z
dc.date.available2025-01-21T16:41:20Z
dc.date.issued2021
dc.departmentKırıkkale Üniversitesi
dc.description.abstractIntroduction: The restless legs syndrome (RLS) is a common heritable neurologic disorder which is characterized by an irresistible desire to move and unpleasant sensations in the legs. Methods: We aim to identify new variants associated with RLS by performing genome-wide linkage and subsequent association analysis of forty member's family with history of RLS. Results: We found evidence of linkage for three loci 7q21.11 (HLOD = 3.02), 7q21.13-7q21.3 (HLOD = 3.02) and 7q22.3 (HLOD = 3.09). Fine-mapping of those regions in association study using exome sequencing identified SEMA3A (p-value = 8.5.10(-)(4)), PPP1R9A (p-value = 7.2.10(-4)), PUS7 (p-value = 8.7.10(-4)), CDHR3 (p-value = 7.2.10(-4)), HBP1 (p-value = 1.5.10(-4)) and COGS (p-value = 1.5.10(-4)) genes with p-values below significance threshold. Conclusion: Linkage analysis with subsequent association study of exome variants identified six new genes associated with RLS mapped on 7q21 and q22.
dc.description.sponsorshipGazi University Projects of Scientific Investigation Unit (BAP) [01/2012-12, 01/2015-11]
dc.description.sponsorshipThis project had been funded by Gazi University Projects of Scientific Investigation Unit (BAP) with the project numbers of 01/2012-12and 01/2015-11.
dc.identifier.doi10.1016/j.ejmg.2021.104186
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue4
dc.identifier.pmid33662638
dc.identifier.scopus2-s2.0-85102117125
dc.identifier.scopusqualityQ3
dc.identifier.urihttps://doi.org/10.1016/j.ejmg.2021.104186
dc.identifier.urihttps://hdl.handle.net/20.500.12587/24870
dc.identifier.volume64
dc.identifier.wosWOS:000635182200003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier
dc.relation.ispartofEuropean Journal of Medical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_20241229
dc.subjectRestless legs syndrome; Microarray; Linkage analysis; Genome wide association; Whole exome sequencing
dc.titleGenome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome
dc.typeArticle

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