PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: Genomic DNA was isolated from blood samples or buccal swabs. Variants in TGFB1 (rs1800472) and RELN (rs39335, rs39350, rs39374) were genotyped in surgically confirmed OTSC patients (n = 94) and a control group (n = 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.
UNASSIGNED: 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.
UNASSIGNED: Despite multiple confirmatory studies on TGFB1 and RELN 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.
UNASSIGNED: Genomic DNA was isolated from blood samples or buccal swabs. Variants in TGFB1 (rs1800472) and RELN (rs39335, rs39350, rs39374) were genotyped in surgically confirmed OTSC patients (n = 94) and a control group (n = 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.
UNASSIGNED: 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.
UNASSIGNED: Despite multiple confirmatory studies on TGFB1 and RELN 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.
摘要：
■耳硬化症（OTSC）是白种人人群中进行性成人发作性听力损失的最常见原因之一，具有女性优势。OTSC的病因是复杂的，据报道有许多遗传变异与OTSC易感性有关，但目前尚无来自欧洲中东部地区患者的OTSC遗传背景数据.我们研究的目的是调查波兰患者先前报道的与OTSC最密切相关的遗传变异的频率。
■从血液样品或口腔拭子中分离基因组DNA。TGFB1(rs1800472)和RELN(rs39335,rs39350,rs39374)的变异体在手术证实的OTSC患者(n=94)和对照组(n=198)中使用定制TaqManSNP基因分型测定和实时PCR进行基因分型。在统计分析中比较各组之间的等位基因和基因型频率，并计算具有95％置信区间的比值比以估计风险。
对于所有测试的变体，OTCS患者和对照组之间的等位基因和基因型分布在统计学上没有显着差异。在测试对象的性别方面也没有统计学上的显著差异。
■尽管在某些人群中对TGFB1和RELN与OTSC发展的关联进行了多次验证性研究，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易感因素存在种群间差异，并证实了这种疾病的遗传异质性。
■从血液样品或口腔拭子中分离基因组DNA。TGFB1(rs1800472)和RELN(rs39335,rs39350,rs39374)的变异体在手术证实的OTSC患者(n=94)和对照组(n=198)中使用定制TaqManSNP基因分型测定和实时PCR进行基因分型。在统计分析中比较各组之间的等位基因和基因型频率，并计算具有95％置信区间的比值比以估计风险。
对于所有测试的变体，OTCS患者和对照组之间的等位基因和基因型分布在统计学上没有显着差异。在测试对象的性别方面也没有统计学上的显著差异。
■尽管在某些人群中对TGFB1和RELN与OTSC发展的关联进行了多次验证性研究，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易感因素存在种群间差异，并证实了这种疾病的遗传异质性。
