Traoré Lassina, Sanou Jérôme, Bakyono Bélélé S, Zoure Abdou A, Zohoncon Théodora M, Sombié Hermann K, Yonli Albert T, Meda-Hien Guertrude, Tibiri Ezechiel B, Djigma Florencia W, Simpore Jacques
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.
Department of Ophthalmology, Joseph KI ZERBO University, CHU Yalgado OUEDRAOGO, Ouagadougou 03, Burkina Faso.
J Curr Glaucoma Pract. 2023 Apr-Jun;17(2):79-84. doi: 10.5005/jp-journals-10078-1403.
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.
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.
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.
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.
This study constituted the beginning of genetic investigations of glaucoma in our context and showed a low Glu323Lys mutation.
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.
青光眼是一组视神经退行性疾病,其诱发因素可能是遗传因素。本研究的目的是评估作为青光眼遗传风险因素的Glu323Lys突变的频率。
2020年10月至2021年3月在布基纳法索瓦加杜古进行了为期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。采用聚合酶链反应(PCR)-限制性片段长度多态性方法检测肌纤蛋白、小梁网诱导糖皮质激素反应()基因的Glu323Lys突变频率。
在青光眼患者中,仅分别在96.63%和3.37%的病例中发现纯合非突变鸟嘌呤-鸟嘌呤(GG)和杂合突变腺嘌呤-鸟嘌呤(AG)基因型。约69.66%的患者有青光眼家族史,28.09%有高血压病史,7.86%有糖尿病病史。
在瓦加杜古的青光眼人群中,基因的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遗传风险因素的作用。
本研究是我们地区青光眼遗传研究的开端,显示Glu323Lys突变率较低。
Traoré L, Sanou J, Bakyono BS, 布基纳法索瓦加杜古原发性开角型青光眼患者基因的Glu323Lys突变患病率及危险因素。《当代青光眼实践杂志》2023年;17(2):79-84。