scholarly journals DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

2014 ◽  
Vol 55 (12) ◽  
pp. 8251-8258 ◽  
Author(s):  
Y. Liu ◽  
M. E. Garrett ◽  
B. L. Yaspan ◽  
J. C. Bailey ◽  
S. J. Loomis ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variants ◽  
Open Angle ◽  
Dna Copy Number ◽  
Dna Copy Number Variants

scholarly journals MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
María I. Canut ◽  
Olaya Villa ◽  
Bachar Kudsieh ◽  
Heidi Mattlin ◽  
Isabel Banchs ◽  
...  
Keyword(s):  
Ocular Hypertension ◽  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Beta Blockers ◽  
Copy Number Variants ◽  
Mediterranean Population ◽  
Open Angle ◽  
Dna Pooling ◽  
Pharmacological Response

AbstractPredicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice in a white Mediterranean population with primary open-angle glaucoma (POAG) or ocular hypertension (OH). We conducted a prospective, controlled, randomized, partial crossover study that included 151 patients of both genders, aged 18 years and older, diagnosed with and requiring pharmacological treatment for POAG or OH in one or both eyes. We sought to identify copy number variants (CNVs) associated with differences in pharmacological response, using a DNA pooling strategy of carefully phenotyped treatment responders and non-responders, treated for a minimum of 6 weeks with a beta-blocker (timolol maleate) and/or prostaglandin analog (latanoprost). Diurnal intraocular pressure reduction and comparative genome wide CNVs were analyzed. Our finding that copy number alleles of an intronic portion of the MLIP gene is a predictor of pharmacological response to beta blockers and prostaglandin analogs could be used as a biomarker to guide first-tier POAG and OH treatment. Our finding improves understanding of the genetic factors modulating pharmacological response in POAG and OH, and represents an important contribution to the establishment of a personalized approach to the treatment of glaucoma.

A Genome-Wide Screen Of Functional Dna Copy Number Variants Identifies Several Novel Asthma Genes

2011 ◽  
Author(s):  
Angela J. Rogers ◽  
Jen-Hwa Chu ◽  
Katayoon Darvishi ◽  
Iuliana Ionita-Laza ◽  
Barbara J. Klanderman ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Dna Copy Number ◽  
Genome Wide ◽  
A Genome ◽  
Functional Dna ◽  
Dna Copy Number Variants

scholarly journals Differences in Aggressive Behavior and DNA Copy Number Variants Between BALB/cJ and BALB/cByJ Substrains

2009 ◽  
Vol 40 (2) ◽  
pp. 201-210 ◽  
Author(s):  
Lady Velez ◽  
Greta Sokoloff ◽  
Klaus A. Miczek ◽  
Abraham A. Palmer ◽  
Stephanie C. Dulawa
Keyword(s):  
Aggressive Behavior ◽  
Copy Number ◽  
Copy Number Variants ◽  
Dna Copy Number ◽  
Dna Copy Number Variants

scholarly journals Copy Number Variations and Primary Open-Angle Glaucoma

2011 ◽  
Vol 52 (10) ◽  
pp. 7122 ◽  
Author(s):  
Lea K. Davis ◽  
Kacie J. Meyer ◽  
Emily I. Schindler ◽  
John S. Beck ◽  
Danielle S. Rudd ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variations ◽  
Open Angle

scholarly journals Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

2015 ◽  
Vol 159 (1) ◽  
pp. 124-130.e1 ◽  
Author(s):  
Mona S. Awadalla ◽  
John H. Fingert ◽  
Benjamin E. Roos ◽  
Simon Chen ◽  
Richard Holmes ◽  
...  
Keyword(s):  
Copy Number ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Copy Number Variations ◽  
Open Angle

scholarly journals GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Katrin Tebel ◽  
Vivien Boldt ◽  
Anne Steininger ◽  
Matthias Port ◽  
Grit Ebert ◽  
...  
Keyword(s):  
Copy Number ◽  
Copy Number Variants ◽  
Dna Copy Number ◽  
Versatile Tool ◽  
Integrative Visualization ◽  
Dna Copy Number Variants
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