Correlation analysis between HLA-DQA1*0102/DQB1*0602 genotypes and narcolepsy patients in China

Area of Science:

• Genetics
• Neurology
• Immunology

Background:

• Narcolepsy etiology is complex, involving autoimmune reactions triggered by environmental and genetic factors.
• Human leukocyte antigen (HLA) class II genes, particularly HLA-DQB1*0602/DQA1*0102, show a strong association with narcolepsy.
• Understanding these genetic associations is crucial for diagnosing and managing narcolepsy.

Purpose of the Study:

• To investigate the correlation between specific HLA-DQB1*0602/DQA1*0102 genotypes and clinical manifestations in Chinese narcolepsy patients.
• To explore how variations in these HLA genotypes influence disease presentation and severity.

Main Methods:

• Retrospective analysis of 78 narcolepsy patients treated between January 2021 and September 2023.
• Collection of demographic data, sleep monitoring results, cerebrospinal fluid (CSF) orexin levels, and HLA gene typing.
• Statistical analysis using SPSS 26.0 and data visualization with GraphPad Prism 9.5.

Main Results:

• The most common HLA-DQB1 allele was *0602 (89.7%), and the most common genotype was *0602*0301 (19.2%).
• HLA-DQB1*0602-positive patients differed significantly from negative patients in orexin-A levels, cataplexy, and various sleep parameters (PSG, MSLT).
• HLA-DQA1*0102-positive patients showed significant differences in disease course and sleep parameters compared to negative patients. Homozygous HLA-DQB1*0602/DQA1*0102 individuals had shorter mean REM latency on MSLT.

Conclusions:

• Specific genotypes of HLA-DQA1*0102/DQB1*0602 are associated with cataplexy symptoms in Chinese narcolepsy patients.
• Homozygous individuals for these HLA genotypes exhibit a shorter mean REM latency on MSLT, suggesting greater genetic susceptibility and more severe sleepiness.