Analysis of ASB10 variants in open angle glaucoma.
Analysis of ASB10 variants in open angle glaucoma.
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DOI：
10.1093/hmg/dds288
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发表时间：
2012-10
影响因子：
3.5
通讯作者：
J. Fingert;B. Roos;Frances Solivan-Timpe;Kathy Miller;T. Oetting;Kai Wang;Young H. Kwon;T. Scheetz;E. Stone;W. Alward
中科院分区：
文献类型：
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作者：
J. Fingert;B. Roos;Frances Solivan-Timpe;Kathy Miller;T. Oetting;Kai Wang;Young H. Kwon;T. Scheetz;E. Stone;W. Alward
青光眼是视力障碍的常见原因，约1.6%的40岁以上人群患有青光眼(1)。锚蛋白重复序列和含有基因10的SOCS盒子（ASB10）的非同义编码序列变异最近与俄勒冈州和德国患者中6.0%的原发性开角型青光眼（POAG）病例相关。我们对来自爱荷华州的POAG患者（n= 158）和正常对照组（n= 82）进行了ASB10突变检测。我们的研究在POAG患者中检测到4.9%突变频率的概率为80%。在队列中共检测到11个非同义编码序列突变，但无论是单独分析还是作为群体分析，均未发现与POAG相关（P < 0.05）。此外，国家心脏、肺和血液研究所（NHLBI）外显子组测序项目的一项调查显示，非同义ASB10突变在普通人群中出现的频率远远高于POAG的患病率。这些数据表明ASB10的非同义突变不会导致孟德尔形式的POAG。
Glaucoma is a common cause of visual disability and affects ∼1.6% of individuals over 40 years of age ( 1). Non-synonymous coding sequence variations in the ankyrin repeat and SOCS box containing gene 10 (ASB10) were recently associated with 6.0% of cases of primary open angle glaucoma (POAG) in patients from Oregon and Germany. We tested a cohort of POAG patients (n= 158) and normal control subjects (n= 82), both from Iowa, for ASB10 mutations. Our study had 80% power to detect a 4.9% mutation frequency in POAG patients. A total of 11 non-synonymous coding sequence mutations were detected in the cohort, but no association with POAG was detected when analyzed individually or as a group (P > 0.05). Furthermore, a survey of the National Heart, Lung, and Blood Institute's (NHLBI's) Exome Sequencing Project revealed that non-synonymous ASB10 mutations are present in the general population at a far higher frequency than the prevalence of POAG. These data suggest that non-synonymous mutations in ASB10 do not cause Mendelian forms of POAG.