Narcolepsy in Slovakia – Epidemiology, clinical and polysomnographic features, comorbid diagnoses: a case-control study

Feketeová, Eva; Tormašiová, Mária; Klobučníková, Katarína; Ďurdík, Peter; Jarcusková, D; Benca, Miroslav; Vitková, Marianna

doi:10.1016/j.sleep.2019.10.012

Cited by 9 publications

(5 citation statements)

References 43 publications

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“…In case/control studies, NT1 has been associated with various autoimmune diseases in some 24 , 25 , but not all 26 studies. For example, Chen et al (2021) found association of narcolepsy with asthma in the general Taiwanese population 27 .…”

Section: Resultsmentioning

confidence: 99%

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Ollila,

Sharon,

Lin

et al. 2023

Nat Commun

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Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix®.

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Section: Resultsmentioning

confidence: 99%

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Ollila,

Sharon,

Lin

et al. 2023

Nat Commun

Self Cite

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“…Activated TRAJ24 and TRBV4-2 preferentially used CDR3α 107-G/Q, 108-A and CDR3β 109-G, 114-D/S, 115-P ( SI Appendix , Fig. S9 E – H ), suggesting their roles in immune responses even with fewer activated TRAJ24 clones ( 12 ).…”

Section: Resultsmentioning

confidence: 99%

“…The disease is strongly associated with human leukocyte antigen (HLA) DQB1*06:02/DQA1*01:02 (98% vs. 25%) (DQ0602) and displays weaker genetic associations with other immune loci, thus suggesting autoimmunity ( 4 – 9 ), although not meeting all criteria for being classified as an autoimmune disease ( 10 ). Like other autoimmune diseases, NT1 presents with increased comorbidity with other autoimmune conditions and asthma ( 11 – 13 ).…”

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confidence: 99%

Characterization of T cell receptors reactive to HCRT _NH2 , pHA _273-287 , and NP _17-31 in control and narcolepsy patients

Luo

Zhang

Lin

et al. 2022

Proc. Natl. Acad. Sci. U.S.A.

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Narcolepsy type 1 (NT1), a disorder caused by hypocretin/orexin (HCRT) cell loss, is associated with human leukocyte antigen (HLA)-DQ0602 (98%) and T cell receptor (TCR) polymorphisms. Increased CD4 + T cell reactivity to HCRT, especially DQ0602-presented amidated C-terminal HCRT (HCRT NH2 ), has been reported, and homology with pHA 273–287 flu antigens from pandemic 2009 H1N1, an established trigger of the disease, suggests molecular mimicry. In this work, we extended DQ0602 tetramer and dextramer data to 77 cases and 44 controls, replicating our prior finding and testing 709 TCRs in Jurkat 76 T cells for functional activation. We found that fewer TCRs isolated with HCRT NH2 (∼11%) versus pHA 273–287 or NP 17–31 antigens (∼50%) were activated by their ligand. Single-cell characterization did not reveal phenotype differences in influenza versus HCRT NH2 -reactive T cells, and analysis of TCR CDR3αβ sequences showed TCR clustering by responses to antigens but no cross-peptide class reactivity. Our results do not support the existence of molecular mimicry between HCRT and pHA 273–287 or NP 17–31 .

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“…Hospital-based studies tend to find lower prevalence rates than population-based studies. 20 The present study covered the entire population of South Korea, but only included those that received medical care associated with narcolepsy. Over the past decade (2010–2019), the public awareness of narcolepsy has increased and accessibility to sleep centers has improved.…”

Section: Discussionmentioning

confidence: 99%

National Estimates of Narcolepsy in Korea

2023

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Background and Purpose Epidemiological data on narcolepsy are rare in South Korea. We aimed to provide an overview of the burden of narcolepsy and its temporal trend in South Korea. Methods Patients with narcolepsy were identified by their registration in the Rare and Intractable Disease (RID) register and the Health Insurance Review and Assessment database. Individuals registered in the RID program with the code V234 were considered as having ‘definite narcolepsy’, while those who claimed health insurance with G47.4 as the primary diagnostic code were considered as having ‘probable narcolepsy’. We estimated the annual prevalence, incidence, and medical costs of narcolepsy between 2010 and 2019. Results The prevalence of definite narcolepsy was 8.4/100,000 in 2019, peaking at 32.0/100,000 in those aged 15–19 years. The prevalence was higher in males, with a relative risk of 1.72. The prevalence has increased over the past 6 years, with an average annual growth rate (AAGR) of 12.2%. The prevalence of probable narcolepsy was 10.7/100,000 in 2019. The incidence of definite narcolepsy increased up to 1.3/100,000 in 2019 with an AAGR of 7.1%. Annual medical expenditure for definite narcolepsy gradually increased up to 4.1 billion KRW in 2019, with a compound annual growth rate of 11.9%. Conclusions This study has provided the first nationwide estimates for narcolepsy in South Korea. The prevalence of diagnosed narcolepsy in South Korea was at the low end of the range of narcolepsy prevalence rates reported for other countries. However, the prevalence and incidence have been steadily increasing over the past decade.

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Narcolepsy in Slovakia – Epidemiology, clinical and polysomnographic features, comorbid diagnoses: a case-control study

Cited by 9 publications

References 43 publications

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Characterization of T cell receptors reactive to HCRT _NH2 , pHA _273-287 , and NP _17-31 in control and narcolepsy patients

National Estimates of Narcolepsy in Korea

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Narcolepsy in Slovakia – Epidemiology, clinical and polysomnographic features, comorbid diagnoses: a case-control study

Cited by 9 publications

References 43 publications

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Characterization of T cell receptors reactive to HCRT NH2 , pHA 273-287 , and NP 17-31 in control and narcolepsy patients

National Estimates of Narcolepsy in Korea

Contact Info

Product

Resources

About

Characterization of T cell receptors reactive to HCRT _NH2 , pHA _273-287 , and NP _17-31 in control and narcolepsy patients