Department of Otolaryngology-Head and Neck Surgery, Renmin Hospital of Wuhan University, Wuhan 430060, China.
Mol Biol Rep. 2011 Mar;38(3):1475-82. doi: 10.1007/s11033-010-0254-4. Epub 2010 Oct 21.
The development of allergic rhinitis is considered to be determined by the interaction between genetic and environmental factors. Surfactant protein A (SP-A), a member of the collectin family of proteins, plays an important role in immune regulation. The purpose of this study was to investigate the association between SP-A polymorphisms and allergic rhinitis. We conducted a case-control association study on a Chinese Han population, comprising 216 adult individuals with AR and 84 healthy controls. A total of 9 single-nucleotide polymorphisms (SNPs) mapped to the SP-A were genotyped using PCR-based molecular identification methods. The frequency of A allele at amino acid 223 in the patient group was significantly higher than that in the control group after correcting for multiple testing (P = 0.006). The 1A(2) allele haplotype in SFTPA2 was associated with decreased risk for allergic rhinitis, after applying Bonferroni corrections (P = 0.003). However, genetic variants of the SFTPA1 genes were not found to be associated with AR. In addition, no significant associations were established between any of the 9 SFTPA gene polymorphisms and the skin-prick test responses (P > 0.05). Further, no association was established between the 9 SNP loci and the levels of total serum immunoglobulin E (IgE) (P > 0.05). These results indicate that the gene polymorphism at the residue 223 in the carbohydrate recognition domain of SFTPA2 may be a genetic marker for the development of AR in the adult Chinese Han population.
变应性鼻炎的发生被认为是由遗传和环境因素相互作用决定的。表面活性蛋白 A(SP-A)是一种富含亮氨酸的糖蛋白,属于表面活性蛋白家族,在免疫调节中发挥重要作用。本研究旨在探讨 SP-A 多态性与变应性鼻炎的关系。我们在中国汉族人群中进行了病例对照关联研究,包括 216 例成人变应性鼻炎患者和 84 例健康对照者。采用基于 PCR 的分子鉴定方法对 SP-A 中的 9 个单核苷酸多态性(SNP)进行基因分型。在进行多重检验校正后,患者组在氨基酸 223 处的 A 等位基因频率明显高于对照组(P=0.006)。在应用 Bonferroni 校正后,SFTPA2 中的 1A(2)等位基因单体型与变应性鼻炎的发病风险降低相关(P=0.003)。然而,SFTPA1 基因的遗传变异与 AR 无关。此外,9 个 SFTPA 基因多态性与皮肤点刺试验反应之间没有建立显著关联(P>0.05)。进一步,9 个 SNP 位点与总血清免疫球蛋白 E(IgE)水平之间也没有建立关联(P>0.05)。这些结果表明,SFTPA2 糖识别结构域残基 223 处的基因多态性可能是中国汉族成人变应性鼻炎发病的遗传标志物。