Oziębło Dominika, Domagała Sara, Leja Marcin L, Skarżyński Henryk, Ołdak Monika
Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw/Kajetany, Poland.
Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
Arch Med Sci. 2020 Sep 16;20(3):962-966. doi: 10.5114/aoms.2020.99011. eCollection 2024.
Otosclerosis (OTSC) is one of the most common causes of progressive adult-onset hearing loss in the Caucasian population, with a female preponderance. The etiology of OTSC is complex and there are a number of genetic variants reported to be associated with OTSC susceptibility, but no data on the genetic background of OTSC in patients originating from the central-eastern part of Europe have been available. The purpose of our study was to investigate in Polish patients the frequency of genetic variants previously reported to be most strongly associated with OTSC.
Genomic DNA was isolated from blood samples or buccal swabs. Variants in (rs1800472) and (rs39335, rs39350, rs39374) were genotyped in surgically confirmed OTSC patients ( = 94) and a control group ( = 198) using custom TaqMan SNP genotyping assays and real-time PCR. Allele and genotype frequencies were compared between the groups in statistical analysis and the odds ratios with 95% confidence intervals were calculated to estimate the risk.
For all of the tested variants the distributions of alleles and genotypes were not statistically significantly different between OTCS patients and the control group. There were also no statistically significant differences in relation to gender of the tested subjects.
Despite multiple confirmatory studies on and association with OTSC development in some populations, no significant association between the studied variants and OTSC was found in Polish patients. Our results indicate the presence of inter-population differences in OTSC susceptibility factors and confirm the large genetic heterogeneity of this disorder.
耳硬化症（OTSC）是白种人群中成人渐进性听力损失的最常见原因之一，女性更为常见。OTSC的病因复杂，有许多基因变异被报道与OTSC易感性相关，但来自欧洲中东部地区患者的OTSC遗传背景数据尚不可得。我们研究的目的是调查波兰患者中先前报道的与OTSC关联最密切的基因变异的频率。
从血液样本或口腔拭子中分离基因组DNA。使用定制的TaqMan SNP基因分型检测和实时PCR技术，对手术确诊的OTSC患者（n = 94）和对照组（n = 198）进行（rs1800472）和（rs39335、rs39350、rs39374）基因分型。在统计分析中比较两组之间的等位基因和基因型频率，并计算95%置信区间的比值比以估计风险。
对于所有测试的变异，OTCS患者和对照组之间的等位基因和基因型分布没有统计学显著差异。在测试对象的性别方面也没有统计学显著差异。
尽管在一些人群中对与OTSC发生的关联进行了多项验证性研究，但在波兰患者中未发现所研究的变异与OTSC之间存在显著关联。我们的结果表明OTSC易感性因素存在人群间差异，并证实了这种疾病存在很大的遗传异质性。
