Otology and Neurotology Group CTS495, Centro de Genómica e Investigación Oncológica Pfizer-Universidad de Granada-Junta de Andalucía (GENyO), Avda. de la Ilustración, 114, 18014 Granada, Spain.
Eur Arch Otorhinolaryngol. 2013 Mar;270(4):1521-9. doi: 10.1007/s00405-012-2268-0. Epub 2012 Nov 21.
Variability in acute immune response genes could determine susceptibility or prognosis for Ménière's disease (MD). The cytokines tumor necrosis factor α (TNFα), macrophage migration inhibitory factor (MIF) and interferon γ (INFγ) are proinflammatory cytokines of the innate immune response. These cytokines mediate inflammation and have been previously associated with the inflammatory process in several autoimmune diseases. We investigated the association between functional allelic variants of MIF (rs35688089), IFNG (rs2234688) and TNFA (rs1800629) in patients with MD. In addition to testing these variants for an association with disease, we also tested for an association with clinical aspects of disease progression, such as persistence of vertigo and the sensorineural hearing loss. A total of 580 patients with diagnosis of definite MD, according to the diagnostic scale of the American Academy of Otolaryngology-Head and Neck Surgery, and 552 healthy controls were included. DNA samples from a set of 291 American patients were used to confirm the results obtained in the MIF gene in our Spanish cohort. Although we found a significant association with the allele containing five repeats of CATT within the MIF gene in patients with MD in the Spanish cohort [corrected p = 0.008, OR = 0.69 (95 % CI, 0.54-0.88)], this finding could not be replicated in the American set. Moreover, no genetic associations for variants in either the TNFA or IFNG genes and MD were found. These results support the conclusion that functional variants of MIF, INFG, and TFNA genes are not associated with disease susceptibility or hearing loss progression in patients with MD.
急性免疫反应基因的变异性可能决定梅尼埃病(MD)的易感性或预后。肿瘤坏死因子α(TNFα)、巨噬细胞移动抑制因子(MIF)和干扰素γ(INFγ)是先天免疫反应的促炎细胞因子。这些细胞因子介导炎症,并且先前与几种自身免疫性疾病的炎症过程有关。我们研究了 MIF(rs35688089)、IFNG(rs2234688)和 TNFA(rs1800629)功能等位基因变异与 MD 患者之间的关系。除了检测这些变异与疾病的关联外,我们还检测了它们与疾病进展的临床方面的关联,例如眩晕的持续存在和感音神经性听力损失。共有 580 名根据美国耳鼻喉科学-头颈外科学会的诊断标准确诊为 MD 的患者和 552 名健康对照者纳入本研究。从一组 291 名美国患者的 DNA 样本中,我们使用这些样本验证了我们在西班牙队列中 MIF 基因中获得的结果。尽管我们在西班牙队列中发现 MIF 基因中含有五个 CATT 重复的等位基因与 MD 患者之间存在显著关联[校正后 p = 0.008,OR = 0.69(95%CI,0.54-0.88)],但这一发现无法在美队列中复制。此外,在 TNFα或 IFNG 基因与 MD 之间也未发现遗传关联。这些结果支持以下结论:MIF、INFG 和 TFNA 基因的功能性变异与 MD 患者的疾病易感性或听力损失进展无关。