New susceptibility variants to narcolepsy identified in HLA class II region.

نویسندگان

  • Taku Miyagawa
  • Hiromi Toyoda
  • Akane Hirataka
  • Takashi Kanbayashi
  • Aya Imanishi
  • Yohei Sagawa
  • Nozomu Kotorii
  • Tatayu Kotorii
  • Yuji Hashizume
  • Kimihiro Ogi
  • Hiroshi Hiejima
  • Yuichi Kamei
  • Akiko Hida
  • Masayuki Miyamoto
  • Makoto Imai
  • Yota Fujimura
  • Yoshiyuki Tamura
  • Azusa Ikegami
  • Yamato Wada
  • Shunpei Moriya
  • Hirokazu Furuya
  • Mitsuhiro Kato
  • Naoto Omata
  • Hiroto Kojima
  • Koichi Kashiwase
  • Hiroh Saji
  • Seik-Soon Khor
  • Maria Yamasaki
  • Yuji Wada
  • Jun Ishigooka
  • Kenji Kuroda
  • Kazuhiko Kume
  • Shigeru Chiba
  • Naoto Yamada
  • Masako Okawa
  • Koichi Hirata
  • Naohisa Uchimura
  • Tetsuo Shimizu
  • Yuichi Inoue
  • Yutaka Honda
  • Kazuo Mishima
  • Makoto Honda
  • Katsushi Tokunaga
چکیده

Narcolepsy, a sleep disorder characterized by excessive daytime sleepiness, cataplexy and rapid eye movement sleep abnormalities, is tightly associated with human leukocyte antigen HLA-DQB1*06:02. DQB1*06:02 is common in the general population (10-30%); therefore, additional genetic factors are needed for the development of narcolepsy. In the present study, HLA-DQB1 in 664 Japanese narcoleptic subjects and 3131 Japanese control subjects was examined to determine whether HLA-DQB1 alleles located in trans of DQB1*06:02 are associated with narcolepsy. The strongest association was with DQB1*06:01 (P = 1.4 × 10(-10), odds ratio, OR = 0.39), as reported in previous studies. Additional predisposing effects of DQB1*03:02 were also found (P = 2.5 × 10(-9), OR = 1.97). A comparison between DQB1*06:02 heterozygous cases and controls revealed dominant protective effects of DQB1*06:01 and DQB1*05:01. In addition, a single-nucleotide polymorphism-based conditional analysis controlling for the effect of HLA-DQB1 was performed to determine whether there were other independent HLA associations outside of HLA-DQB1. This analysis revealed associations at HLA-DPB1 in the HLA class II region (rs3117242, P = 4.1 × 10(-5), OR = 2.45; DPB1*05:01, P = 8.1 × 10(-3), OR = 1.39). These results indicate that complex HLA class II associations contribute to the genetic predisposition to narcolepsy.

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عنوان ژورنال:
  • Human molecular genetics

دوره 24 3  شماره 

صفحات  -

تاریخ انتشار 2015