Department of Oral and Craniofacial Science, Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Stomatology, Shanghai 200011, China.
Gene. 2013 Nov 10;530(2):287-94. doi: 10.1016/j.gene.2013.08.012. Epub 2013 Aug 26.
Obstructive sleep apnea and hypopnea syndrome (OSAHS) is a common disorder with several predisposing factors, which may include genetic causes. Studies of the association of susceptibility to and severity of OSAHS with the polymorphisms of the 5-HTR 2A/2C genes have had low statistical power and have yielded inconsistent results. To clarify the association we perform a meta-analysis that combines the genotyping data from all eligible published studies. We quantitatively analyzed five publications, which included a pool of 633 cases and 512 controls, addressing the 5-HT receptor polymorphism and the risk of OSAHS. Hardy-Weinberg equilibrium (HWE) and the minor allele frequency of genetic frequency distributions for the controls were calculated. Differences in the distribution of genotypes between cases and controls were compared by odds ratios (ORs) with their 95% confidence intervals (CIs). For each genetic model, data were pooled using fixed- or random-effects models, depending on the inter-publication heterogeneity. Our results from pooled data showed that individuals carrying the 5-HTR 2A -1438G/A AA genotype had an increased risk of OSAHS (OR=3.69, 95% CI=1.92-7.08) compared with those carrying the GG genotype. Significant results were also reached under a recessive model (OR=3.16, 95% CI=2.33-4.30, p<0.01). However, the results declined to an OR of 2.16 (95% CI=0.9-5.21) in a homozygote model when the studies were restricted to HWE. No statistically significant results concerning an association of the 102C/T polymorphism of the 5-HTR 2A gene with OSAHS were reached (p>0.05 for each genetic model). This meta-analysis suggested that the 5-HTR 2A -1438G/A genotype might modulate an elevated risk of OSAHS. No association of the 5-HTR 2A 102C/T genotype polymorphism with OSAHS was established. However, some publications exhibited HWE bias, which might influence the reliability of pooled data. Further studies in this field, using larger samples, better designs and additional ethnicities, are warranted.
阻塞性睡眠呼吸暂停低通气综合征（OSAHS）是一种常见的疾病，有多种诱发因素，其中可能包括遗传原因。研究易感性和 OSAHS 的严重程度与 5-HTR2A/2C 基因多态性的关联的统计效能较低，并且结果不一致。为了阐明这种关联，我们进行了一项荟萃分析，该分析结合了所有符合条件的已发表研究的基因分型数据。我们对 5 篇文献进行了定量分析，这些文献包括 633 例病例和 512 例对照，探讨了 5-HT 受体多态性与 OSAHS 的风险。计算了对照组遗传频率分布的 Hardy-Weinberg 平衡（HWE）和次要等位基因频率。通过比值比（OR）及其 95％置信区间（CI）比较病例和对照组之间基因型分布的差异。对于每种遗传模型，根据文献之间的异质性，使用固定或随机效应模型对数据进行汇总。我们对汇总数据的结果表明，与携带 GG 基因型的个体相比，携带 5-HTR2A-1438G/A AA 基因型的个体患 OSAHS 的风险增加（OR=3.69，95％CI=1.92-7.08）。在隐性模型下也得到了显著结果（OR=3.16，95％CI=2.33-4.30，p<0.01）。但是，当研究仅限于 HWE 时，在纯合子模型下，结果下降到 2.16（95％CI=0.9-5.21）的 OR。关于 5-HTR2A 基因 102C/T 多态性与 OSAHS 的关联未达到统计学意义（每种遗传模型的 p>0.05）。这项荟萃分析表明，5-HTR2A-1438G/A 基因型可能调节 OSAHS 的风险升高。未建立 5-HTR2A102C/T 基因型多态性与 OSAHS 的关联。但是，一些出版物存在 HWE 偏倚，这可能会影响汇总数据的可靠性。需要在该领域进行更多的研究，使用更大的样本量、更好的设计和其他种族。
