阻塞性睡眠呼吸暂停综合征与载脂蛋白E基因变异之间的关系。

The relationship between obstructive sleep apnea syndrome and apolipoprotein E genetic variants.

作者信息

Uyrum Ebru, Balbay Oner, Annakkaya Ali Nihat, Gulec Balbay Ege, Silan Fatma, Arbak Peri

机构信息

Department of Chest Diseases, Akhisar State Hospital, Manisa, Turkey.

出版信息

Respiration. 2015;89(3):195-200. doi: 10.1159/000369560. Epub 2015 Jan 22.

DOI:10.1159/000369560

PMID:25613112

Abstract

BACKGROUND

Clinical and epidemiological studies indicate that obstructive sleep apnea syndrome (OSAS) has a strong genetic basis.

OBJECTIVES

To investigate the apolipoprotein E (APOE) alleles as a genetic risk factor in OSAS.

METHODS

A total of 73 patients (37 male) were included. All underwent full-night polysomnography and were evaluated for APOE alleles.

RESULTS

The mean age was 51 ± 12 years. Forty-two of the patients had OSAS. The APOE3 allele was found in 97.3% (71/73) of the study population. The most common APOE genotype was E3/E3 (55/73, 75.3%). Compared to the individuals with no APOE2 alleles (E3/E3, E3/E4), the individuals with at least one APOE2 allele (E2/E3, E2/E4) had a 9.37-fold greater OSAS risk (OR = 9.37, 95% CI 1.13-77.7, p = 0.019). The individuals with APOE2 alleles (E2/E3, E2/E4) compared to the individuals with only an E3/E3 allele genotype had a 10-fold greater OSAS risk (OR = 10.3, 95% CI 1.24-86.61, p = 0.0308). Compared to the individuals with no APOE4 alleles (E2/E3, E3/E3), the individuals with APOE4 alleles (E2/E4, E3/E4) had a high but insignificant risk for OSAS (OR = 2.9, 95% CI 0.55-15.05, p = 0.286). The individuals with APOE4 alleles (E2/E4, E3/E4) compared to APOE3 alleles (E3/E3) had an increased but insignificant risk for OSAS (OR = 3.62, 95% CI 0.96-19.05, p = 0.127).

CONCLUSION

Specific APOE genotypes are associated with OSAS in a high-risk population.

摘要

背景

临床和流行病学研究表明，阻塞性睡眠呼吸暂停综合征（OSAS）有很强的遗传基础。

目的

研究载脂蛋白E（APOE）等位基因作为OSAS的遗传危险因素。

方法

共纳入73例患者（37例男性）。所有患者均接受整夜多导睡眠图检查，并对APOE等位基因进行评估。

结果

平均年龄为51±12岁。42例患者患有OSAS。在97.3%（71/73）的研究人群中发现了APOE3等位基因。最常见的APOE基因型是E3/E3（55/73，75.3%）。与没有APOE2等位基因的个体（E3/E3、E3/E4）相比，至少有一个APOE2等位基因的个体（E2/E3、E2/E4）患OSAS的风险高9.37倍（OR=9.37，95%CI 1.13 - 77.7，p = 0.019）。与仅具有E3/E3等位基因基因型的个体相比，具有APOE2等位基因的个体（E2/E3、E2/E4）患OSAS的风险高10倍（OR = 10.3，95%CI 1.24 - 86.61，p = 0.0308）。与没有APOE4等位基因的个体（E2/E3、E3/E3）相比，具有APOE4等位基因的个体（E2/E4、E3/E4）患OSAS的风险较高但无统计学意义（OR = 2.9，95%CI 0.55 - 15.05，p = 0.286）。与APOE3等位基因（E3/E3）相比，具有APOE4等位基因的个体（E2/E4、E3/E4）患OSAS的风险增加但无统计学意义（OR = 3.62，95%CI 0.96 - 19.05，p = 0.127）。