Mfuna Endam Leandra, Cormier Chantale, Bossé Yohan, Filali-Mouhim Abdelali, Desrosiers Martin
Department of Otolaryngology, Centre de Recherche du Centre Hospitalier de l'Université de Montréal Hôtel-Dieu, Canada.
Arch Otolaryngol Head Neck Surg. 2010 Feb;136(2):187-92. doi: 10.1001/archoto.2009.219.
To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes.
In a case-control replication study, DNA samples were obtained from 206 patients with severe CRS (cases) and from 196 postal code-matched controls. For IL1A and TNF, the 3 reported SNPs were complemented with tagging SNPs using an International HapMap genotyping data set to ensure complete genetic coverage. For IL1B, only the single reported SNP was assessed. A total of 24 SNPs (7 in IL1A, 1 in IL1B, and 16 in TNF) were individually genotyped. The PLINK software package was used to perform genetic association tests.
Academic research.
Canadian population of individuals with severe CRS.
Allelic differences between cases and controls.
Significant allelic differences between cases and controls were obtained for IL1A rs17561 (odds ratio [OR], 1.48; P = .02). The following 3 additional SNPs in this gene were associated with CRS: rs2856838 (OR, 0.63; P = .003), rs2048874 (OR, 0.57; P = .01), and rs1800587 (OR, 1.49; P = .02). These 3 SNPs remained significant after correction for multiple testing. No association was found with IL1B or TNF.
We replicated the previously reported association between the IL1A polymorphism and severe CRS and identified 3 potential new associations in the same gene. This further supports the potential contribution of IL1A to the development of CRS. We were unable to replicate previous reports of associations with IL1B or TNF.
在土耳其人群中复制并扩展近期关于慢性鼻窦炎伴鼻息肉与白细胞介素1A（IL1A，rs17561和Ser114Ala）、白细胞介素1B（IL1B，rs16944）以及肿瘤坏死因子（TNF，rs361525和rs1800629）基因单核苷酸多态性（SNP）之间关联的研究结果。
在一项病例对照复制研究中，从206例重度慢性鼻窦炎患者（病例组）和196名邮政编码匹配的对照者中获取DNA样本。对于IL1A和TNF，利用国际人类基因组单体型图（HapMap）基因分型数据集，用标签SNP对3个已报道的SNP进行补充，以确保完整的基因覆盖。对于IL1B，仅评估单个已报道的SNP。总共24个SNP（IL1A中7个、IL1B中1个、TNF中16个）进行了个体基因分型。使用PLINK软件包进行基因关联测试。
学术研究机构。
加拿大重度慢性鼻窦炎患者群体。
病例组与对照组之间的等位基因差异。
在IL1A rs17561位点，病例组与对照组之间存在显著的等位基因差异（优势比[OR]为1.48；P = 0.02）。该基因中的另外3个SNP与慢性鼻窦炎相关：rs2856838（OR为0.63；P = 0.003）、rs2048874（OR为0.57；P = 0.01）以及rs1800587（OR为1.49；P = 0.02）。经过多重检验校正后，这3个SNP仍具有显著性。未发现与IL1B或TNF存在关联。
我们复制了先前报道的IL1A基因多态性与重度慢性鼻窦炎之间的关联，并在同一基因中确定了3个潜在的新关联。这进一步支持了IL1A在慢性鼻窦炎发病中的潜在作用。我们未能复制先前关于与IL1B或TNF关联的报道。
