Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome

Lee, Sang Haak; Kim, Chi Hong; Ahn, Joong Hyun; Kang, Ji Ho; Kim, Kwan Hyoung; Song, Jeong Sup; Park, Sung Hak; Moon, Hwa Sik; Choi, Hee-Baeg; Kim, Tai Gyu; Choi, Young Mee

doi:10.4046/trd.2005.59.3.298

Cited by 6 publications

(8 citation statements)

References 23 publications

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“…Brunetti et al [52] investigated the influence of HLA antigens and OSAS in childhood; there was no significant difference in frequency of HLA-DRB1*15 between OSA patients and the controls, but HLA-B65 expression was found to be significantly higher in children with sleep disordered breathing as compared with controls (10.5% vs. 3.61; post-Bonferroni correction (Pypc) < 0.04). Similarly, Lee et al [53] reported an analysis of HLA in Korean patients with OSA that revealed no association between HLA-DRB1*15 and OSA, however, an association was shown between OSA and the HLA-A11 and DRB1*09 alleles and between OSA severity and HLA-DRB1*08 allele. Other diverse alleles in the HLA system have been linked to OSA.…”

Section: Discussionmentioning

confidence: 92%

The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea

Momany

Al-Qatarneh

Khader

et al. 2017

CIM

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Section: Discussionmentioning

confidence: 92%

The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea

Momany

Al-Qatarneh

Khader

et al. 2017

CIM

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“…A Japanese study [29] with a cohort of 32 male subjects with OSAS, failed to demonstrate an association between HLA-DR alleles and OSAS patients. Also a Korean study [25], with 25 patients (24 males, 1 female) with OSAS, reported that HLA-DRB1*09 allele frequency was increased (23% OSAS vs. 16% CP). On the same study, the authors restricted the analysis to the most severe apnoea cases and reported an increase of the HLA-DRB1*08 allele frequency (36% in OSAS vs. 20% in CP).…”

Section: Discussionmentioning

confidence: 99%

“…However, this significance was lost after Bonferroni's multiple testing corrections [24]. A study carried out in Korean patients [25] revealed an association between OSAS and HLA-A*11 and DRB1*09 genes. The HLA-A*11 allele frequency was significantly lower in patients with OSAS (acting as a protective factor) and the HLA-DRB1*09 allele frequency was higher when compared with controls (acting as a susceptible factor).…”

Section: Introductionmentioning

confidence: 99%

“…The HLA-A*11 allele frequency was significantly lower in patients with OSAS (acting as a protective factor) and the HLA-DRB1*09 allele frequency was higher when compared with controls (acting as a susceptible factor). They also stressed that HLA-DRB1*08 allele is associated with disease severity [25]. More recent studies show changes on the ratio of electroencephalographic sleep waves frequencies in HLA-DQB1*06:02 positive OSAS patients, opening the discussion about the role of HLA alleles in the sleep structure [26].…”

Section: Introductionmentioning

confidence: 99%

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Síndrome de apnea obstructiva del sueño y HLA en el norte de Portugal

Silva¹,

Lopes²,

Ramalheira³

et al. 2015

RevNeurol

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Introduction. The obstructive sleep apnoea syndrome (OSAS) is a common, complex and polygenic disease with diverse aetiologies interacting to produce a single phenotype. OSAS occurs throughout the entire lifespan and familial aggregation has been suggested. Several predisposing factors, as age, gender and obesity have been described. Associations between HLA polymorphisms and sleep disorders are confirmed, in European and Non-European descendent populations. However the associations found between HLA alleles and OSAS have not been consistent and have no informative value for sleep disorder classification. Aims. To explore the genetic association of HLA with OSAS in a northern Portuguese population and to evaluate the role of obesity in the context of HLA in OSAS. Patients and methods. A cohort of 131 patients with OSAS was studied. Patients followed up in an Outpatient Sleep Clinic were assessed by clinical history, night sleep polygraphic recording, multiple sleep latency test (when necessary for differential diagnosis), laboratorial and demographic studies. A control population (CP) of 223 healthy individuals was used for comparison. HLA-DRB1 genotyping was performed using a polymerase chain reaction with sequence specific primers methodology. Results. In this cohort, the HLA-DRB1*03 allele was identified as a susceptibility factor for OSAS (24% OSAS vs. 15% CP; p = 0.025; odds ratio = 1.861; 95% CI = 1.081-3.205). No significant differences were found for other HLA-DBR1* alleles. Conclusion. HLA-DRB1*03 is a susceptibility factor for OSAS in Portuguese population.

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“…The HLA-DQB1*0602 allele was also found to be associated with OSA 19,20 . Other HLA alleles were also found to be associated with OSA such as HLA-A11 and HLA-DRB1*09 alleles 21 , and HLA-A2 22 . The combination of non-genetic and genetic factors that interfere with disease development can be present and make it hard to investigate HLA types related to diseases [23][24][25][26] .…”

Section: Introductionmentioning

confidence: 99%

Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

Al-Qatarneh

Momany

Abuharfil

et al. 2019

Bangladesh J Med Sci

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Background: Genetic variations in the HLA system may cause susceptibility to a large number of autoimmune and infectious diseases, and the complexity of HLA makes it hard to investigate HLA types associated with diseases. The association between HLA and Obstructive Sleep Apnea (OSA) is not well investigated due to the complexity of OSA pathogenesis; including genetic and non-genetic in different populations. Our previous study using PCR-SSPs technique showed that HLA-DQB1*0602 allele is associated with almost 6 times increase in risk in North Jordan OSA patients. Aim: The aim of this study was to see if there are any HLA genetic variations using DNA sequencing technique in the region in which HLA-DQB1*0602 is located that might interact with HLA-DQB1*0602 and affect OSA development in OSA patients who were positive for HLA-DQB1*0602 allele. Result: The DNA sequencing results showed 8 nucleotide substitution variations, which are p.G77E (c.230G>A), p.R80R (c.240C>G), p.Q85L (c.254A>T), p.R87P (c.260G>C), p.Y69D (c.205T>G), p.A70V (c.209C>T), p.A70A (c.210G>A), p.Y79Y (c.237C>T). Although only 5 variants resulted in amino acid change, all 8 variants were included in the statistical analysis, and none of these genetic variants was significant (p-value> 0.05). Additionally, eight haplotypes were detected. Some of these haplotypes might have a role in disease development through the interaction with HLA-DQB1*0602 and other genetic variants or could be as markers for OSA by the mechanism of linkage disequilibrium. Conclusion: Further studies are needed to explain the pathogenesis of OSA in terms of possible self or non-self-antigens involved. Bangladesh Journal of Medical Science Vol.18(3) 2019 p.473-478

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Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome

Cited by 6 publications

References 23 publications

The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea

The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea

Síndrome de apnea obstructiva del sueño y HLA en el norte de Portugal

Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

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Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome

Cited by 6 publications

References 23 publications

The association of HLA-DQB1*0602 but not HLA-DRB1*15 with obstructive sleep apnea

The association of HLA-DQB1*0602 but not HLA-DRB1*15 with obstructive sleep apnea

Síndrome de apnea obstructiva del sueño y HLA en el norte de Portugal

Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

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Product

Resources

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The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea

The association of HLA-DQB10602 but not HLA-DRB115 with obstructive sleep apnea