Genetics of Narcolepsy / HLA DQB1 0602

Index General Discussion The Science of N Genetics of Narcolepsy / HLA DQB1 0602

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    Sleepy RBD
    Participant @sleepy-rbd

    I found this information this weekend and thought that some of you might find it interesting. The association of HLA DQB1 0602 to NT1 has been known for years, but here are some updates.

    “Almost all patients with NT1 carry the specific human leukocyte antigen (HLA) allele HLA-DQB1*06:02. Genome-wide association studies have uncovered >10 genomic variations associated with NT1….” “Genetics of Narcolepsy”

    “Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis…” (Science Direct Sleep Medicine Volume 52, December 2018, Pages 150-157) / “CONCLUSIONS: Our data support the preponderant role of HLA-DQB1*06:02 in susceptibility to NT1/NT2 across all ethnicities. HLA-DQB1*06:02 negativity should make clinicians cautious in excluding other diagnoses.” (link to abstract / source)

    I have previously posted this link, “Narcolepsy Linked To Genetic Variant: The Sleeping Disorder And Genes Are Linked In Nearly 100% Of Cases”, but thought it might also be relevant to post it here.
    Hopefully, some of you will find this information helpful on your journey to find answers.

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