Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).
<h4>Background</h4>SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japan...
Guardado en:
| Autores principales: | , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2009
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/6268056794184cddb7904829cb09f0b1 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:6268056794184cddb7904829cb09f0b1 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:6268056794184cddb7904829cb09f0b12021-11-25T06:22:55ZPolymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).1932-620310.1371/journal.pone.0005394https://doaj.org/article/6268056794184cddb7904829cb09f0b12009-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19404393/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy.<h4>Principal findings</h4>EHS was significantly associated with SNP rs5770917 (P(allele) = 3.6x10(-3); OR = 1.56; 95% c.i.: 1.12-2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P(positivity) = 9.2x10(-11); OR = 3.97; 95% c.i.: 2.55-6.19). No interaction between the two markers (SNP rs5770917 and HLA-DRB1*1501-DQB1*0602 haplotype) was observed in EHS.<h4>Conclusion</h4>CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.Taku MiyagawaMakoto HondaMinae KawashimaMihoko ShimadaSusumu TanakaYutaka HondaKatsushi TokunagaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 4, Iss 4, p e5394 (2009) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Taku Miyagawa Makoto Honda Minae Kawashima Mihoko Shimada Susumu Tanaka Yutaka Honda Katsushi Tokunaga Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| description |
<h4>Background</h4>SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy.<h4>Principal findings</h4>EHS was significantly associated with SNP rs5770917 (P(allele) = 3.6x10(-3); OR = 1.56; 95% c.i.: 1.12-2.15) and HLA-DRB1*1501-DQB1*0602 haplotype (P(positivity) = 9.2x10(-11); OR = 3.97; 95% c.i.: 2.55-6.19). No interaction between the two markers (SNP rs5770917 and HLA-DRB1*1501-DQB1*0602 haplotype) was observed in EHS.<h4>Conclusion</h4>CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy. |
| format |
article |
| author |
Taku Miyagawa Makoto Honda Minae Kawashima Mihoko Shimada Susumu Tanaka Yutaka Honda Katsushi Tokunaga |
| author_facet |
Taku Miyagawa Makoto Honda Minae Kawashima Mihoko Shimada Susumu Tanaka Yutaka Honda Katsushi Tokunaga |
| author_sort |
Taku Miyagawa |
| title |
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| title_short |
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| title_full |
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| title_fullStr |
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| title_full_unstemmed |
Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). |
| title_sort |
polymorphism located between cpt1b and chkb, and hla-drb1*1501-dqb1*0602 haplotype confer susceptibility to cns hypersomnias (essential hypersomnia). |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2009 |
| url |
https://doaj.org/article/6268056794184cddb7904829cb09f0b1 |
| work_keys_str_mv |
AT takumiyagawa polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT makotohonda polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT minaekawashima polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT mihokoshimada polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT susumutanaka polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT yutakahonda polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia AT katsushitokunaga polymorphismlocatedbetweencpt1bandchkbandhladrb11501dqb10602haplotypeconfersusceptibilitytocnshypersomniasessentialhypersomnia |
| _version_ |
1718413804476301312 |