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- W2000632002 abstract "<b>Background and Purpose:</b> Transgenic mice overexpressing <i>Notch2</i> in the uvea exhibit a hyperplastic ciliary body leading to increased IOP and glaucoma. The aim of this study was to investigate the possible presence of <i>NOTCH2</i> variants in patients with primary open-angle glaucoma (POAG). <b>Methods:</b> We screened DNA samples from 130 patients with POAG for <i>NOTCH2</i> variants by denaturing high-performance liquid chromatography after PCR amplification and validated our data by direct Sanger sequencing. <b>Results:</b> No mutations were observed in the coding regions of <i>NOTCH2</i> or in the splice sites. 19 known SNPs (single nucleotide polymorphisms) were detected. An SNP located in intron 24, c.[4005 + 45A>G], was seen in 28.5 % of the patients (37/130 patients). As this SNP is reported to have a minor allele frequency of 7 % in the 1000 genomes database, it could be associated with POAG. However, we evaluated its frequency in an ethnic-matched control group of 96 subjects unaffected by POAG and observed a frequency of 29 %, indicating that it was not related to POAG. <b>Conclusion:</b> <i>NOTCH2</i> seemed to be a good candidate for POAG as it is expressed in the anterior segment in the human eye. However, mutational analysis did not show any causative mutation. This study also shows that proper ethnic-matched control groups are essential in association studies and that values given in databases are sometimes misleading." @default.
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- W2000632002 date "2015-04-22" @default.
- W2000632002 modified "2023-09-27" @default.
- W2000632002 title "Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma" @default.
- W2000632002 doi "https://doi.org/10.1055/s-0035-1545781" @default.
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