2019
DOI: 10.1016/j.ygeno.2018.04.006
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Glaucoma Pred: Glaucoma prediction based on Myocilin genotype and phenotype information

Abstract: Glaucoma is the second leading cause of blindness after cataract and is heterogeneous in nature. Employing a genetic approach for the detection of the diseased condition provides an advantage that the gene responsible for the disease can be identified by genetic test. The availability of predictive tests based on the published literature would provide a mechanism for early detection and treatment. The genotype and phenotype information could be a valuable source for predicting the risk of the disease. To this … Show more

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Cited by 6 publications
(3 citation statements)
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“…Compared with prior review articles (Cheng et al, 2012;Fingert et al, 2002;Gong et al, 2004;H. Wang et al, 2019) and databases (Hewitt et al, 2008;Rangachari et al, 2019) that focus on clinical or biochemical aspects of myocilin variants, we have taken a holistic approach: we consider available clinical metrics, related statistical analyses, as well as biological, cellular and biochemical behavior, and atomic-detail inferences from the OLF structure. We present the challenges in differentiating glaucoma variants from nondisease variants in this multifactorial disease and suggest paths forward to resolve ambiguities.…”
Section: Introductionmentioning
confidence: 99%
“…Compared with prior review articles (Cheng et al, 2012;Fingert et al, 2002;Gong et al, 2004;H. Wang et al, 2019) and databases (Hewitt et al, 2008;Rangachari et al, 2019) that focus on clinical or biochemical aspects of myocilin variants, we have taken a holistic approach: we consider available clinical metrics, related statistical analyses, as well as biological, cellular and biochemical behavior, and atomic-detail inferences from the OLF structure. We present the challenges in differentiating glaucoma variants from nondisease variants in this multifactorial disease and suggest paths forward to resolve ambiguities.…”
Section: Introductionmentioning
confidence: 99%
“…In a subset of patients, open-angle glaucoma is linked to genetic factors, namely, a mutation in the myocilin gene that is inherited in an autosomal dominant fashion and is characterized by frequent nucleotide substitutions [33,34]. A database on myocilin genotypes may help clinicians and researchers to identify individuals at risk of developing open-angle glaucoma [35].…”
Section: Ocular Adr To Gcsmentioning
confidence: 99%
“…at present, 771 nucleotide substitutions have been reported in the MYOC gene. among these, 331 substitutions are disease-causing mutations (dcM) (12). MYOC has been investigated for >20 years and is the most common mutated gene in patients with glaucoma (13,14).…”
Section: Introductionmentioning
confidence: 99%