Prevalence of Glu323Lys Mutation of the TIGR/MYOC Gene and Risk Factors amongst Primary Open-angle Glaucoma Patients in Ouagadougou, Burkina Faso.

Q3 Medicine
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
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引用次数: 0

Abstract

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.

Abstract Image

Abstract Image

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。
目的:青光眼是一组视神经退行性疾病,其诱发因素可能是遗传性的。本研究的目的是估计Glu323Lys突变作为青光眼遗传危险因素的频率。材料和方法:2020年10月至2021年3月在布基纳法索瓦加杜古进行的为期6个月的横断面研究。共收集了89例原发性开角型青光眼(POAG)患者的样本。应用聚合酶链式反应(PCR)-限制性片段长度多态性检测肌球蛋白、小梁网诱导型糖皮质激素反应(TIGR/MYOC)基因Glu323Lys突变频率。结果:在青光眼患者中,分别有96.63%和3.37%的病例发现纯合的非突变鸟嘌呤(GG)和杂合的突变腺嘌呤-鸟嘌呤(AG)基因型。约69.66%的患者有青光眼家族史,28.09%有高血压史,7.86%有糖尿病史。结论:瓦加杜古青光眼患者TIGR/MYOC基因Glu323Lys突变频率为3.37%。有必要进行病例对照研究,以了解Glu323Lys突变作为我们研究人群中青光眼的遗传危险因素的作用。临床意义:这项研究是我们对青光眼基因研究的开始,并显示了低Glu323Lys突变。如何引用这篇文章:TraoréL,Sanou J,Bakyono BS等。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。青光眼临床杂志2023;17(2):79-84。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Current Glaucoma Practice
Journal of Current Glaucoma Practice Medicine-Ophthalmology
CiteScore
1.00
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