Identification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons

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dc.contributor.authorCingoz S.
dc.contributor.authorAgilkaya S.
dc.contributor.authorOztura I.
dc.contributor.authorEroglu S.
dc.contributor.authorKaradeniz D.
dc.contributor.authorEvlice A.
dc.contributor.authorAltungoz O.
dc.contributor.authorYilmaz H.
dc.contributor.authorBaklan B.
dc.date.accessioned2024-07-22T08:15:04Z
dc.date.available2024-07-22T08:15:04Z
dc.date.issued2014
dc.description.abstractBackground: The HLA-DQB1*06:02 allele across all ethnic groups and the rs5770917 variation between CPT1B and CHKB genes in Japanese and Koreans are common genetic susceptibility factors for narcolepsy. This comprehensive genetic study sought to assess variations in CHKB and CPT1B susceptibility genes and HLA-DQB1*06:02 allele status in Turkish patients with narcolepsy and healthy persons. Methods: CHKB/CPT1B genes were sequenced in patients with narcolepsy (n=37) and healthy persons (n=100) to detect variations. The HLA-DQB1*06:02 allele status was determined by sequence specific polymerase chain reaction. Results: The HLA-DQB1*06:02 allele was significantly more frequent in narcoleptic patients than in healthy persons (p=2×10-7) and in patients with narcolepsy and cataplexy than in those without (p=0.018). The mean of the multiple sleep latency test, sleep-onset rapid eye movement periods, and frequency of sleep paralysis significantly differed in the HLA-DQB1*06:02-positive patients. rs5770917, rs5770911, rs2269381, and rs2269382 were detected together as a haplotype in three patients and 11 healthy persons. In addition to this haplotype, the indel variation (rs144647670) was detected in the 5′ upstream region of the human CHKB gene in the patients and healthy persons carrying four variants together. Conclusion: This study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B. The study confirmed the association of the HLA-DQB1*06:02 allele with narcolepsy and cataplexy susceptibility. The findings suggest that the presence of HLA-DQB1*06:02 may be a predictor of cataplexy in narcoleptic patients and could therefore be used as an additional diagnostic marker alongside hypocretin. © 2014 Mary Ann Liebert, Inc.
dc.identifier.DOI-ID10.1089/gtmb.2013.0391
dc.identifier.issn19450265
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/16679
dc.language.isoEnglish
dc.publisherMary Ann Liebert Inc.
dc.rightsAll Open Access; Green Open Access
dc.subjectAlleles
dc.subjectBase Sequence
dc.subjectCarnitine O-Palmitoyltransferase
dc.subjectCase-Control Studies
dc.subjectCholine Kinase
dc.subjectDNA Primers
dc.subjectElectrophoresis, Agar Gel
dc.subjectFemale
dc.subjectGenetic Variation
dc.subjectHaplotypes
dc.subjectHLA-DQ beta-Chains
dc.subjectHumans
dc.subjectMale
dc.subjectNarcolepsy
dc.subjectPolymerase Chain Reaction
dc.subjectTurkey
dc.subjectHLA DQB1 antigen
dc.subjectcarnitine palmitoyltransferase
dc.subjectCHKB protein, human
dc.subjectcholine kinase
dc.subjectCPT1B protein, human
dc.subjectHLA DQ antigen
dc.subjectHLA-DQB1 antigen
dc.subjectprimer DNA
dc.subject5' untranslated region
dc.subjectadolescent
dc.subjectadult
dc.subjectallele
dc.subjectarticle
dc.subjectchkb gene
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectCPT1b gene
dc.subjectfemale
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene sequence
dc.subjectgenetic susceptibility
dc.subjectgenetic variability
dc.subjecthaplotype
dc.subjecthuman
dc.subjectindel mutation
dc.subjectmale
dc.subjectmiddle aged
dc.subjectnarcolepsy
dc.subjectparasomnia
dc.subjectREM sleep
dc.subjectsingle nucleotide polymorphism
dc.subjectTurkey (republic)
dc.subjectyoung adult
dc.subjectagar gel electrophoresis
dc.subjectallele
dc.subjectcase control study
dc.subjectgenetic variability
dc.subjectgenetics
dc.subjectnarcolepsy
dc.subjectnucleotide sequence
dc.subjectpolymerase chain reaction
dc.subjectTurkey
dc.titleIdentification of the variations in the CPT1B and CHKB genes along with the HLA-DQB1*06:02 allele in Turkish narcolepsy patients and healthy persons
dc.typeArticle

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