Department of Otolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, PR China.
BMC Med Genet. 2012 Sep 13;13:79. doi: 10.1186/1471-2350-13-79.
Thymic stromal lymphopoietin (TSLP) is an epithelial cell-derived cytokine, implicated in the development and progression of allergic diseases. Recent studies have demonstrated significantly increased expression and synthesis of TSLPin nasal mucosa of patients with allergic rhinitis (AR), compared with nonallergic control subjects. Also, there is significant correlation between the level of TSLP mRNA and symptom severity in AR patients. In this study, we investigated whether polymorphisms in the TSLP gene were associated with increased risk of AR in the Chinese population.
In a candidate gene association study, we tested 11 single nucleotide polymorphisms (SNPs) in the TSLP gene in 368 AR and 325 control adult Han Chinese subjects from Beijing. The 11 SNPs were selected from the Chinese HapMap genotyping dataset to ensure complete genetic coverage. AR was established by questionnaire and clinical examination, and blood was drawn from all subjects for DNA extraction. The PLINK software package was used to perform statistical testing.
In the single-locus analysis of AR risk, no significant differences in allele and genotype frequencies were found between AR and control subjects. Further logistic regression analyses adjusted for age and gender also failed to reveal significant associations between AR and the selected SNPs. Similarly, analysis stratified by gender, and haplotype or diplotype did not reveal any association with AR risk.
Although TSLP presents itself as a good candidate for contributing to allergy, this study failed to find an association between specific SNPs in the TSLP gene and AR susceptibility in the Han Chinese population.
胸腺基质淋巴细胞生成素(TSLP)是一种上皮细胞衍生的细胞因子,与过敏性疾病的发展和进展有关。最近的研究表明,与非过敏性对照受试者相比,过敏性鼻炎(AR)患者的鼻黏膜中 TSLP 的表达和合成显著增加。此外,AR 患者 TSLP mRNA 的水平与症状严重程度之间存在显著相关性。在这项研究中,我们研究了 TSLP 基因中的多态性是否与中国人群中 AR 的风险增加有关。
在候选基因关联研究中,我们在北京的 368 名 AR 和 325 名对照成年汉族受试者中测试了 TSLP 基因中的 11 个单核苷酸多态性(SNP)。这 11 个 SNP 是从中国 HapMap 基因分型数据集中选择的,以确保完全的遗传覆盖。通过问卷和临床检查确定 AR,从所有受试者中抽取血液进行 DNA 提取。使用 PLINK 软件包进行统计检验。
在 AR 风险的单基因分析中,AR 组和对照组之间的等位基因和基因型频率无显著差异。进一步调整年龄和性别后进行逻辑回归分析,也未能发现所选 SNPs 与 AR 之间存在显著关联。同样,按性别、单倍型或二倍型分层分析也未发现与 AR 风险相关。
尽管 TSLP 本身是一种很好的候选基因,可能与过敏有关,但本研究未能发现 TSLP 基因中的特定 SNPs 与汉族人群中 AR 的易感性之间存在关联。