Lassina Traoré, Jérôme Sanou, Bélélé S Bakyono, Abdou A Zoure, Théodora M Zohoncon, Hermann K Sombié, Albert T Yonli, Guertrude Meda-Hien, Ezechiel B Tibiri, Florencia W Djigma, Jacques Simpore
{"title":"布基纳法索瓦加杜古原发性开角型青光眼患者TIGR/MYOC基因Glu323Lys突变的患病率和危险因素。","authors":"Lassina Traoré, Jérôme Sanou, Bélélé S Bakyono, Abdou A Zoure, Théodora M Zohoncon, Hermann K Sombié, Albert T Yonli, Guertrude Meda-Hien, Ezechiel B Tibiri, Florencia W Djigma, Jacques Simpore","doi":"10.5005/jp-journals-10078-1403","DOIUrl":null,"url":null,"abstract":"<p><strong>Aim: </strong>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.</p><p><strong>Materials and methods: </strong>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 (<i>TIGR/MYOC</i>) gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The frequency of the Glu323Lys mutation of the <i>TIGR/MYOC</i> 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.</p><p><strong>Clinical significance: </strong>This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation.</p><p><strong>How to cite this article: </strong>Traoré L, Sanou J, Bakyono BS, <i>et al.</i> Prevalence of Glu323Lys Mutation of the <i>TIGR/MYOC</i> Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.</p>","PeriodicalId":15419,"journal":{"name":"Journal of Current Glaucoma Practice","volume":"17 2","pages":"79-84"},"PeriodicalIF":0.0000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/67/2f/jocgp-17-79.PMC10357018.pdf","citationCount":"0","resultStr":"{\"title\":\"Prevalence of Glu323Lys Mutation of the <i>TIGR/MYOC</i> Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso.\",\"authors\":\"Lassina Traoré, Jérôme Sanou, Bélélé S Bakyono, Abdou A Zoure, Théodora M Zohoncon, Hermann K Sombié, Albert T Yonli, Guertrude Meda-Hien, Ezechiel B Tibiri, Florencia W Djigma, Jacques Simpore\",\"doi\":\"10.5005/jp-journals-10078-1403\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aim: </strong>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.</p><p><strong>Materials and methods: </strong>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 (<i>TIGR/MYOC</i>) gene by polymerase chain reaction (PCR)-restriction fragment length polymorphism.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The frequency of the Glu323Lys mutation of the <i>TIGR/MYOC</i> 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.</p><p><strong>Clinical significance: </strong>This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation.</p><p><strong>How to cite this article: </strong>Traoré L, Sanou J, Bakyono BS, <i>et al.</i> Prevalence of Glu323Lys Mutation of the <i>TIGR/MYOC</i> Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.</p>\",\"PeriodicalId\":15419,\"journal\":{\"name\":\"Journal of Current Glaucoma Practice\",\"volume\":\"17 2\",\"pages\":\"79-84\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/67/2f/jocgp-17-79.PMC10357018.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Current Glaucoma Practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5005/jp-journals-10078-1403\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Current Glaucoma Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5005/jp-journals-10078-1403","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, 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. 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 (TIGR/MYOC) 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 TIGR/MYOC 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, et al. Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso. J Curr Glaucoma Pract 2023;17(2):79-84.