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

BACKGROUND AND OBJECTIVE

At present, the etiology of narcolepsy is not fully understood, and it is generally believed to be an autoimmune reaction caused by interactions between environmental and genetic factors. Human leukocyte antigen (HLA) class II genes are strongly associated with this gene, especially HLA-DQB10602/DQA10102. In this study, we mainly analyzed the correlation between different genotypes of HLA-DQB10602/DQA10102 and clinical manifestations in Chinese patients with narcolepsy.

EXPERIMENTAL METHOD

Narcolepsy patients who were treated at the Department of Neurology, The First Affiliated Hospital of Shandong First Medical University from January 2021 to September 2023 were selected. General information, sleep monitoring data, cerebrospinal fluid (CSF) orexin levels, and human leukocyte antigen gene typing data were collected. The statistical analysis was performed using SPSS 26.0, and the graphs were drawn using GraphPad Prism 9.5.

MAIN RESULTS

A total of 78 patients were included in this study. The DQA1 and DQB1 gene loci were detected in 54 patients, and only the DQB1 gene locus was detected in 24 narcoleptic patients. The most common allele at the HLA-DQB1 locus was 0602 (89.7%), and the most common genotype at this locus was 06020301 (19.2%), followed by 06020602 (17.9%). The most common phenotype of the HLA-DQA1 locus is 0102 (92.6%), and the most common genotype of this locus is 01020102 (27.8%), followed by 01020505 (14.8%). There were significant differences ( < 0.05) between HLA-DQB10602-positive and HLA-DQB10602-negative patients in terms of orexin-A levels, presence or absence of cataplexy, UNS, PSG sleep latency, REM sleep latency, N1 sleep percentage, oxygen depletion index, and average REM latency on the MSLT. The HLA-DQA10102-positive and HLA-DQA10102-negative patients showed significant differences ( < 0.05) in disease course, presence or absence of sudden onset, PSG REM sleep latency, N1 sleep percentage, and average REM latency on the MSLT. There were significant differences in the average REM latency of the MSLT between HLA-DQB10602/DQA10102 homozygous and heterozygous patients  < 0.05, and no differences were found in the baseline data, orexin-A levels, scale scores, or other sleep parameters.

CONCLUSION

Different genotypes of HLA-DQA10102/DQB10602 are associated with symptoms of cataplexy in Chinese narcoleptic patients. Homozygous individuals have a shorter mean REM latency in the MSLT, greater genetic susceptibility, and relatively more severe sleepiness.