Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma.
Materials And Methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso. A total of 89 samples of patients with primary open-angle glaucoma (POAG) were collected. The frequency of the Glu323Lys mutation of the myocilin, trabecular meshwork inducible glucocorticoid response () gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism.
Results: In glaucoma patients, only homozygous nonmutated guanine-guanine (GG) and heterozygous mutated adenine-guanine (AG) genotypes were found in 96.63 and 3.37% of cases, respectively. Around 69.66% of patients had a family history of glaucoma, 28.09% had a history of hypertension, and 7.86% had a history of diabetes.
Conclusion: The frequency of the Glu323Lys mutation of the gene was 3.37% in the glaucoma population in Ouagadougou. A case-control study is necessary to know the contribution of the Glu323Lys mutation as a genetic risk factor for glaucoma in our study population.
Clinical Significance: This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation.
How To Cite This Article: Traoré L, Sanou J, Bakyono BS, Prevalence of Glu323Lys Mutation of the Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.
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http://dx.doi.org/10.5005/jp-journals-10078-1403 | DOI Listing |
J Curr Glaucoma Pract
January 2023
Department of Molecular Biology, Pietro Annigoni Biomolecular Research Center (CERBA), Ouagadougou 01, Burkina Faso; Department of Laboratory of Molecular and Genetic Biology (LABIOGENE), Joseph KI-ZERBO University, Ouagadougou 03, Burkina Faso; Faculty of Medicine, Saint Thomas Aquinas University (USTA), Ouagadougou 06, Burkina Faso.
Aim: Glaucoma is a group of degenerative diseases of the optic nerve whose predisposing factors may be genetic. The objective of this study was to estimate the frequency of the Glu323Lys mutation as a genetic risk factor for glaucoma.
Materials And Methods: A cross-sectional study over 6 months from October 2020 to March 2021 in Ouagadougou, Burkina Faso.
Hum Mol Genet
November 2021
Center for Experimental Medicine, Institute for Cellular and Integrative Physiology, University Hospital Hamburg-Eppendorf, 20246 Hamburg, Germany.
Here, we report on six unrelated individuals, all presenting with early-onset global developmental delay, associated with impaired motor, speech and cognitive development, partly with developmental epileptic encephalopathy and physical dysmorphisms. All individuals carry heterozygous missense variants of KCND2, which encodes the voltage-gated potassium (Kv) channel α-subunit Kv4.2.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
March 2004
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Objectives: To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.
Methods: The peripheral blood samples were collected from the probands and their family members and the plasma FXI:C and FXI:Ag were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.
Eye (Lond)
June 2000
Department of Ophthalmology, University of California Medical Center, San Francisco 94143-0730, USA.
Glucocorticoid (GC) treatment of human trabecular meshwork (HTM) cells produces delayed, progressive cellular and extracellular protein/glycoprotein inductions with characteristics matching those for intraocular pressure elevation with corticosteroid eyedrops. The cloning of the Trabecular Meshwork Inducible Glucocorticoid Response (TIGR) gene from this system has suggested possible environmental and genetic influences in relation to glaucoma mechanisms. As reported here, the major GC-induced increase of TIGR expression in HTM cells is reduced approximately 4-fold by basic fibroblast growth factor (bFGF, 100-1000 pM), with a somewhat smaller inhibition noted with the thyroid hormone triiodothyronine (T3, 100 nM).
View Article and Find Full Text PDFAm J Ophthalmol
August 2000
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA.
Purpose: To screen a population with primary open-angle glaucoma for mutations in the gene that encodes the trabecular meshwork inducible glucocorticoid response protein (TIGR), also known as myocilin (MYOC).
Methods: Ophthalmologic information was collected for study subjects with primary open-angle glaucoma and their relatives. Mutation screening of 74 primary open-angle glaucoma probands was conducted by sequencing TIGR/MYOC coding sequence and splice sites.
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