Tuberc Respir Dis.  2005 Sep;59(3):298-305.

Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome

• Lee SH
• Kim CH
• Ahn JH
• Kang JH
• Kim KH
• Song JS
• Park SH
• Moon HS
• Choi HB
• Kim TG
• Choi YM

Abstract

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is believed to have multifactorial causes. The major risk factors for OSAS are obesity, narrowed upper airways, and abnormal cranial-facial structures. A genetic basis for OSAS has been also suggested by reports of families with many members affected. This study analyzed the HLA typing in patients with OSAS to determine the possible role of genetics in OSAS.
METHODS
Twenty-five Korean patients with OSAS (1 woman and 24 men; age range 30-66 years) were enrolled in this study. A diagnosis of OSAS was made using full-night polysomnography. The control group consisted of 200 healthy Korean people. Serologic typing of the HLA-A and B alleles was performed in all patients using a standard lymphocyte microcytotoxicity test. Analysis of the polymorphic second exons of the HLA-DRB1 gene was performed using a polymerase chain reaction-sequence specific oligonucleotide probe.
RESULTS
The allele frequency of HLA-A11 was significantly lower in patients with OSAS compared with the controls (p<0.05). The HLA-B allele frequencies in the patients and controls had a similar distribution. Analysis of the HLA- DRB1 gene polymorphisms showed an increased frequency of DRB1*09 in the OSA patients compared with the controls (p<0.05). When the analysis was performed after dividing the OSAS patients according to the severity of apnea, the allele frequency of HLA-DRB1*08 was significantly higher in the severe OSA patients (apnea index>45) than in the controls (p<0.05).
CONCLUSION
This study revealed an association between OSAS and the HLA-A11 and DRB1*09 alleles as well as association between the disease severity and the HLA-DRB1*08 allele in Korean patients. These results suggest that genetics plays an important role in both the development and the disease severity of OSAS.

Keyword

Obstructive sleep apnea; HLA antigens

MeSH Terms

Alleles
Apnea
Cytotoxicity Tests, Immunologic
Diagnosis
Exons
Female
Gene Frequency
Genetics
Histocompatibility Testing
HLA Antigens
HLA-A Antigens
HLA-A11 Antigen
HLA-B Antigens
HLA-DRB1 Chains
Humans
Lymphocytes
Male
Obesity
Polysomnography
Risk Factors
Sleep Apnea, Obstructive*
HLA Antigens
HLA-A Antigens
HLA-A11 Antigen
HLA-B Antigens
HLA-DRB1 Chains