Friday, 15/12/2017

PROTRANS HLA Narcolepsy

Narcolepsy is a neurological disease which affects the ability of the brain to regulate
wake - sleep cycles and is often associated with e.g. cataplexy and sleep paralysis.

Genetically Narcolepsy has been described being the disease with the highest
HLA association worldwide.  About 98% of the narcolepsy patients represent the
HLA DRB1*15:01 - DQB1*06:02-DQA1*01:02 haplotype (except African Americans)
with the allele HLA-DQB1*06:02 being the most significant marker.

As the Narcolepsy associated HLA alleles are present in 20% - 30% of the
general population the Protrans HLA Narcolepsy Domino System allows
either to exclude Narcolepsy  or to give a further hint for investigation.

 

Frequencies of Alleles or Allele combinations with an association to Narcolepsy

HLA Associations according to published frequencies in Narcolepsy patients

 

HLA-DQB1*06:02
  • 100% Caucasians
  • 96% African Americans
  • 55% of them being homozygous
  • Homozygousity: strong predisposing effect in the range of
    two to four times as compared to heterozygousity

HLA-DQB1*06:02 - DQA1*01:02
  • Between 82% and 100%

HLA-DRB1*15:01 (or *15:03) - HLA-DQB1*06:02
  • 98% Caucasians
  • 60% African Americans
  • 100% Koreans

DRB1*15:01 (or *15:03) - DQB1*06:02 - DQA1*01:02
  • 95% Caucasians
  • 75% African Americans

DRB1*15:01 (or *15:03)
  • 100% Japanese
  • 75% African Americans

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