Liu Wenjing, Liu Yutao, Challa Pratap, Herndon Leon W, Wiggs Janey L, Girkin Christopher A, Allingham R Rand, Hauser Michael A
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.
Mol Vis. 2012;18:2241-6. Epub 2012 Aug 10.
Mutations in the myocilin gene (MYOC) are associated with primary open-angle glaucoma (POAG) in many different populations. This study represents the first large survey of MYOC mutations in an African American population.
We recruited 529 African American subjects with POAG and 270 African American control subjects in this study. A complete eye examination and blood collection was performed in all study subjects. Genomic DNA was extracted. The entire coding sequence of MYOC was amplified and sequenced using the Sanger method. Identified MYOC variants were compared with previously reported MYOC mutations.
We identified a total of 29 MYOC variants including six potential MYOC mutations. Two mutations (Thr209Asn and Leu215Gln) are novel and are found only in cases and no controls. We also identified four previously reported MYOC mutations in cases and no controls (Tyr453MetfsX11, Gln368X, Thr377Met, and Ser393Arg). The overall frequency of glaucoma-causing MYOC mutations in our African American population with POAG was 1.4%.
We identified two novel probable glaucoma-causing MYOC mutations (Thr209Asn and Leu215Gln). This study indicates that, despite the high prevalence of POAG, MYOC mutations are rare in the African American population.
在许多不同人群中，肌纤蛋白基因（MYOC）突变与原发性开角型青光眼（POAG）相关。本研究是对非裔美国人中MYOC突变的首次大规模调查。
本研究招募了529名患有POAG的非裔美国人受试者和270名非裔美国人对照受试者。对所有研究对象进行了全面的眼部检查和血液采集。提取基因组DNA。使用桑格法对MYOC的整个编码序列进行扩增和测序。将鉴定出的MYOC变异与先前报道的MYOC突变进行比较。
我们共鉴定出29个MYOC变异，其中包括6个潜在的MYOC突变。两个突变（Thr209Asn和Leu215Gln）是新发现的，仅在病例中发现，对照中未发现。我们还在病例中鉴定出4个先前报道的MYOC突变，对照中未发现（Tyr453MetfsX11、Gln368X、Thr377Met和Ser393Arg）。在我们患有POAG的非裔美国人中，导致青光眼的MYOC突变的总体频率为1.4%。
我们鉴定出两个新的可能导致青光眼的MYOC突变（Thr209Asn和Leu215Gln）。本研究表明，尽管POAG患病率很高，但MYOC突变在非裔美国人中很少见。
