MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1371/journal.pone.0005394

Медицинская библиотека · PloS one · 2009

Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).

Miyagawa Taku, Honda Makoto, Kawashima Minae, Shimada Mihoko, Tanaka Susumu, Honda Yutaka, Tokunaga Katsushi

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

BACKGROUND

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.

PRINCIPAL FINDINGS: 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.

CONCLUSION

CPT1B, CHKB and HLA are candidates for susceptibility to CNS hypersomnias (EHS), as well as narcolepsy with cataplexy.

Для цитирования: Miyagawa Taku, Honda Makoto, Kawashima Minae, Shimada Mihoko, Tanaka Susumu, Honda Yutaka, Tokunaga Katsushi. Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).. PloS one. 2009. DOI: 10.1371/journal.pone.0005394.

Предметные рубрики MeSH

Asian PeopleCarnitine O-PalmitoyltransferaseCase-Control StudiesCholine KinaseDisorders of Excessive SomnolenceGene FrequencyGenetic MarkersGenetic Predisposition to DiseaseGenotypeHLA-DQ AntigensHLA-DQ beta-ChainsHLA-DR AntigensHLA-DRB1 ChainsHaplotypesHumansMembrane GlycoproteinsPolymorphism, GeneticPolymorphism, Single Nucleotide
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.