Otology and Neurotology Group, Departments of Research and Otolaryngology, Hospital de Poniente, Almeria, Spain.
Laryngoscope. 2010 Jan;120(1):103-7. doi: 10.1002/lary.20650.
OBJECTIVES/HYPOTHESIS: Bilateral Meniere's disease (BMD) is a severe disease that usually results in bilateral severe or profound sensorineural hearing loss and chronic disequilibrium with loss of vestibular function. We examined single nucleotide polymorphisms (SNPs) in the PTPN22 and CTLA4 genes in Caucasian patients with BMD to assess the possible association between these polymorphism and the predisposition and clinical expression of this disease.
A case control study.
The functional protein tyrosine phosphatase type 22 (PTPN22) SNP (rs2476601, 1858C/T) and CTLA4 SNP (rs231775, 49A/G) were analyzed in 52 patients with BMD and 348 healthy controls by a TaqMan 5' allelic discrimination assay. Data were analyzed by a chi(2) test with Fisher exact test.
No association was found between the +49A/G CTLA4 genotype and BMD patients. However, the heterozygote PTPN22 1858C/T genotype was present at a significantly higher frequency in BMD patients than in controls (odds ratio = 2.25, 95% confidence interval: 1.09-4.62; P = .04).
These results suggest that the PTPN22 1858C/T genotype may confer differential susceptibility to BMD in the Spanish population and support an autoimmune etiology for BMD.
目的/假设：双侧梅尼埃病（BMD）是一种严重的疾病，通常导致双侧严重或深度感音神经性听力损失和慢性平衡障碍，伴有前庭功能丧失。我们检查了白种人 BMD 患者中 PTPN22 和 CTLA4 基因的单核苷酸多态性（SNP），以评估这些多态性与这种疾病的易感性和临床表达之间的可能关联。
病例对照研究。
通过 TaqMan 5'等位基因鉴别分析，对 52 例 BMD 患者和 348 名健康对照者的功能性蛋白酪氨酸磷酸酶 22（PTPN22）SNP（rs2476601，1858C/T）和 CTLA4 SNP（rs231775，49A/G）进行分析。数据通过卡方检验和 Fisher 精确检验进行分析。
+49A/G CTLA4 基因型与 BMD 患者之间没有关联。然而，BMD 患者中杂合子 PTPN22 1858C/T 基因型的出现频率明显高于对照组（优势比=2.25，95%置信区间：1.09-4.62；P=0.04）。
这些结果表明，PTPN22 1858C/T 基因型可能使西班牙人群对 BMD 具有不同的易感性，并支持 BMD 的自身免疫病因。
