College of Dentistry, University of Kentucky, Lexington, KY.
College of Medicine, University of Kentucky, Lexington, KY.
J Clin Sleep Med. 2014 Apr 15;10(4):397-402. doi: 10.5664/jcsm.3614.
This case-control study investigated whether variations within the APOE-ε gene were associated with having a convex facial profile (skeletal Class II) compared to exhibiting a straight or concave facial profile (Class I or Class III) among patients with obstructive sleep apnea (OSA). Associations between the apnea-hypopnea index (AHI) and body mass index (BMI) scores for these OSA patients were also examined in the context of facial profile.
OSA patients with an AHI ≥ 15 were recruited from a sleep clinic and classified by facial and dental occlusal relationships based on a profile facial analysis, lateral photographs, and dental examination. Saliva was collected as a source of DNA. The APOE-ε1-4 allele-defining single nucleotide polymorphisms (SNPs) rs429358 and rs7412 were genotyped. A χ(2) analysis was used to assess Hardy-Weinberg equilibrium and for association analysis (significance at p < 0.05). ANOVA and Fisher exact test were also used.
Seventy-six Caucasian OSA patients participated in the study-25 Class II cases and 51 non-Class II cases. There was no association of the APOE-ε4 allele with facial profile among these OSA patients. Class II OSA patients had significantly lower BMIs (30.7 ± 5.78) than Class I (37.3 ± 6.14) or Class III (37.8 ± 6.17) patients (p < 0.001), although there was no statistical difference in AHI for Class II patients compared with other groups.
OSA patients with Class II convex profile were more likely to have a lower BMI than those in other skeletal groups. In fact 20% of them were not obese, suggesting that a Class II convex profile may influence or be associated with OSA development independent of BMI.
本病例对照研究旨在探讨 APOE-ε 基因内的变异是否与阻塞性睡眠呼吸暂停（OSA）患者的凸面型（骨骼 II 类）有关，而与直面型或凹面型（I 类或 III 类）有关。还检查了这些 OSA 患者的呼吸暂停低通气指数（AHI）和体重指数（BMI）评分与面型的关系。
从睡眠诊所招募 AHI≥15 的 OSA 患者，并根据侧位照片和牙科检查对面部和牙合关系进行分类，以进行面型分析。收集唾液作为 DNA 来源。对 APOE-ε1-4 等位基因定义的单核苷酸多态性（SNP）rs429358 和 rs7412 进行基因分型。使用 χ(2)分析评估 Hardy-Weinberg 平衡和关联分析（p<0.05 有意义）。还使用了 ANOVA 和 Fisher 确切检验。
76 名白种人 OSA 患者参与了这项研究-25 名 II 类病例和 51 名非 II 类病例。在这些 OSA 患者中，APOE-ε4 等位基因与面型无关联。II 类 OSA 患者的 BMI（30.7±5.78）明显低于 I 类（37.3±6.14）或 III 类（37.8±6.17）患者（p<0.001），尽管 II 类患者的 AHI 与其他组无统计学差异。
II 类凸面型 OSA 患者的 BMI 低于其他骨骼组。事实上，他们中有 20%的人不肥胖，这表明 II 类凸面型可能独立于 BMI 影响或与 OSA 发病有关。
