HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy

Shareef, Saad M. Al; AlAnbay, Eiman; AlKhathlan, Mujahed A.; Shakoor, Zahid; Alnasser, Mustafa; Hamam, Khalid D.; Alharbi‎, Abdulrahman; Almeneessier, Aljohara S.; BaHammam, Ahmed S.

doi:10.1007/s11325-018-1717-4

Cited by 9 publications

(3 citation statements)

References 35 publications

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“…Although there is no consensus on the mechanisms causing narcolepsy, the presence of auto-antibodies, HLA links, and familial predisposition point to autoimmune pathogenesis 32,33. Autoimmune diseases often demonstrate clinical improvement in the course of the disorders over time after an abrupt acute onset phase 34.…”

Section: Discussionmentioning

confidence: 99%

<p>A 10-Year Longitudinal Observational Study Of Cataplexy In A Cohort Of Narcolepsy Type 1 Patients</p>

Almeneessier

Alballa²,

Alsalman³

et al. 2019

NSS

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PurposeNarcolepsy type 1 (NT1) is thought to have a chronic persistent course. This study aimed to assess the natural course of cataplexy in patients with NT1 at 2, 6, and 10 years after stabilizing symptoms. Other secondary objectives included assessing sleep quality, body mass index (BMI), and comorbidities at recruitment and 10 years later.Patients and methodsCataplexy symptoms, the Epworth sleepiness scale (ESS), sleep quality (assessed using the Pittsburgh sleep quality index [PSQI]), BMI, and comorbid conditions were prospectively monitored in 38 patients with NT1. The study sample comprised 38 patients with narcolepsy (males=27). The mean ages at disease onset and recruitment were 17.7 ± 5.6 years and 24.3 ± 8.6 years, respectively.ResultsIn 42% of the cohort, the anti-cataplectic medications were stopped at the end of the study without disturbing symptoms of cataplexy. Additionally, there was an apparent significant reduction in the frequency of cataplexy over time. The mean ESS score decreased by more than 4 points from 19.4 ± 2.9 to 15 ± 4.3 (p<0.001) while on the same pharmacotherapy. The number of patients with a PSQI score of <5 (indicating good sleep quality) increased from 6 (15.8%) to 15 (39.5%) (p=0.004). The BMI increased from 30 ± 5.1 to 33.3 ± 6 kg/m2 (p=0.001). No changes were documented in comorbidities.ConclusionThe findings suggest that the course of NT1 is not stable. Over a 10-year period, cataplexy symptoms improved or disappeared in a large proportion of patients, and there was an improvement in daytime sleepiness and nighttime sleep quality. More prospective studies that repeatedly monitor CSF-HCRT are needed to confirm the current findings.

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Section: Discussionmentioning

confidence: 99%

<p>A 10-Year Longitudinal Observational Study Of Cataplexy In A Cohort Of Narcolepsy Type 1 Patients</p>

Almeneessier

Alballa²,

Alsalman³

et al. 2019

NSS

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“…Unlike HLA-A*11:01, HLA-DQB1*06:02 was expressed at significantly lower levels in SSNSWR and SDNS/FRNS than that in the control group. HLA-DQB1*06:02 allele and its high-frequency haplotypes have been previously reported to play different (risk/protection) roles in diseases of endocrine system, nervous system and immune system, thus indicating extensive and significant genetic effect [37][38][39][40][41][42]. In our study, low frequencies of HLA-DQB1*06:02 in SSNSWR and SDNS/FRNS suggested it to be a protective role in regulating the immune response and affecting the occurrence and development of the disease.…”

Section: Discussionmentioning

confidence: 99%

Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome

Lü

Wang

et al. 2022

World J Pediatr

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Background Few studies have addressed the effects of human leukocyte antigen (HLA) alleles on different clinical sub-phenotypes in childhood steroid-sensitive nephrotic syndrome (SSNS), including SSNS without recurrence (SSNSWR) and steroid-dependent nephrotic syndrome/frequently relapse nephrotic syndrome (SDNS/FRNS). In this study, we investigated the relationship between HLA system and children with SSNSWR and SDNS/FRNS and clarified the value of HLA allele detection for precise typing of childhood SSNS. Methods A total of 241 Chinese Han individuals with SSNS were genotyped using GenCap-WES Capture Kit, and four-digit resolution HLA alleles were imputed from available Genome Wide Association data. The distribution and carrying frequency of HLA alleles in SSNSWR and SDNS/FRNS were investigated. Additionally, logistic regression and mediating effects were used to examine the relationship between risk factors for disease process and HLA system. Results Compared with SSNSWR, significantly decreased serum levels of complement 3 (C3) and complement 4 (C4) at onset were detected in SDNS/FRNS (C3, P < 0.001; C4, P = 0.018). The average time to remission after sufficient initial steroid treatment in SDNS/FRNS was significantly longer than that in SSNSWR (P = 0.0001). Low level of C4 was further identified as an independent risk factor for SDNS/FRNS (P = 0.008, odds ratio = 0.174, 95% confidence interval 0.048–0.630). The HLA-A*11:01 allele was independently associated with SSNSWR and SDNS/FRNS (P = 0.0012 and P = 0.0006, respectively). No significant HLA alleles were detected between SSNSWR and SDNS/FRNS. In addition, a mediating effect among HLA-I alleles (HLA-B*15:11, HLA-B*44:03 and HLA-C*07:06), C4 level and SDNS/FRNS was identified. Conclusions HLA-I alleles provide novel genetic markers for SSNSWR and SDNS/FRNS. HLA-I antigens may be involved in steroid dependent or frequent relapse in children with SSNS as mediators of immunoregulation.

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“…[34] In contrast, some other class II alleles had the greatest effect on narcolepsy risk, but 2 studies showed a small and independent effect of class I alleles. [35] 1.2.6. Orexin neurons may be killed by t cells.…”

Section: Evidence Of Autoimmune Mechanismsmentioning

confidence: 99%

TCM syndrome differentiation and treatment of narcolepsy based on neurobiological mechanism: A review

2022

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Narcolepsy is a relatively rare brain disorder caused by the selective loss of orexin neurons. Narcolepsy is divided into Narcolepsy Type 1 (NT1) and Narcolepsis Type 2 (NT2). The pathogenesis of NT1 has been well established due to the severe loss of orexin neurons, while NT2 is still poorly understood, and little is known about its underlying neurobiological mechanisms. human leukocyte antigen alleles have been found to strongly influence the development of narcolepsy, with more than 90% of NT1 patients carrying the human leukocyte antigen II allele DQB1*06:02. In addition to the genetic evidence for the DQBI*06:02 allele, some other evidence suggests that a T cell-mediated immune mechanism destroys the orexin neurons of NT1, with CD4 + T cells being key. For this disease, traditional Chinese medicine (TCM) therapy has its own characteristics and advantages, especially the combination of acupuncture and medicine in the treatment of this disease in TCM, which has made considerable and gratifying progress. The purpose of this review is to introduce the frontier progress of neurobiology of narcolepsy, and to explore the syndrome differentiation and treatment of narcolepsy with the combined use of TCM and Western medicine combined with TCM.

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HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy

Abstract: DQB1*06:02 allele frequencies among Saudi patients with narcolepsy were consistent with previously published data.

Cited by 9 publications

References 35 publications

<p>A 10-Year Longitudinal Observational Study Of Cataplexy In A Cohort Of Narcolepsy Type 1 Patients</p>

<p>A 10-Year Longitudinal Observational Study Of Cataplexy In A Cohort Of Narcolepsy Type 1 Patients</p>

Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome

TCM syndrome differentiation and treatment of narcolepsy based on neurobiological mechanism: A review

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