HLA and genetic susceptibility to sleepwalking
M Lecendreux1, C Bassetti, Y Dauvilliers
1Service de Psycopathologie de l'Enfant et de l'Adolescent, Hôpital Robert Dobré, Paris, France.
Molecular Psychiatry
|January 31, 2003
Summary
Specific HLA-DQB1 genes are linked to sleepwalking (SW) disorder. A particular amino acid (Ser74) in DQB1*05 and DQB1*04 alleles shows strong association with SW in families.
Area of Science:
- Genetics
- Sleep Medicine
- Immunology
Background:
- Sleepwalking (SW) disorder is a parasomnia with complex genetic underpinnings.
- Human Leukocyte Antigen (HLA) genes are crucial for immune responses and have been implicated in various neurological disorders.
Purpose of the Study:
- To investigate the association between HLA-DQB1 alleles and sleepwalking (SW) disorder.
- To identify specific genetic markers within HLA-DQB1 associated with SW susceptibility.
Main Methods:
- HLA-DQB1 typing was performed on 60 Caucasian individuals with SW and their families, alongside 60 controls.
- Transmission disequilibrium test (TDT) was used to assess allelic association in familial cases.
- Sequence screening was conducted to identify specific amino acid variations.
Main Results:
- A significantly higher prevalence of the DQB1*0501 allele was observed in sleepwalkers (35.0%) compared to controls (13.3%).
- The transmission disequilibrium test revealed an excess transmission of DQB1*05 and DQB1*04 alleles in familial SW cases.
- A specific amino acid, Ser74, shared by DQB1*05 and DQB1*04, showed a strong transmission bias in familial SW, suggesting a more direct association.
Conclusions:
- Specific HLA-DQB1 alleles and a particular amino acid polymorphism (Ser74) are associated with sleepwalking disorder.
- These findings contribute to understanding the genetic basis of motor control disorders during sleep, alongside narcolepsy and REM sleep behavior disorder.
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