Preliminary identification of pathogenic variants in an afro-Colombian raizal family with risk factors for glaucoma

Colombia Medica (Online)

article

Harry Castillo-Plata¹  Nelson Rivera-Franco²  Claudia Valencia-Peña³  Wilmar Saldarriaga-Gil⁴  Lyle Newball⁵  Andres Castillo Giraldo⁶ 

[1] Escuela de Ciencias Básicas, Universidad del Valle;Laboratorio TAO-Lab/CiBioFi, Departamento de Biología. Facultad de Ciencias Naturales y Exactas, Universidad del Valle;Ciencias Básicas Medicas, Escuela de Ciencias Básicas, Universidad del Valle. Cali;Departamento de Morfología, Escuela de Ciencias Básicas, Universidad del Valle;Clínica Lynd Newball;Departamento de Biología. Facultad de Ciencias Naturales y Exactas, Universidad del Valle, Cali, Colombia. - Department of Neurology, Johns Hopkins University School of Medicine

关键词: Glaucoma;    African Continental Descent Group;    Whole Exome Sequencing;    Intraocular Pressure;    Trabecular Mesh;    Ocular Hypertension;    Blindness;   

DOI  :  10.25100/cm.v53i2.5107

学科分类：医学（综合）

来源: Universidad del Valle * Facultad de Salud / Universidad del Valle, Faculty of Health

【 摘 要 】

Objective:To identify pathogenic variants in an Afro-Colombian Raizal family with risk factors forglaucoma.Methods:In the present study, whole exome sequencing was performed on seven members of a Raizalfamily from the archipelago of San Andrés, Providencia, and Santa Catalina, in the Caribbeanregion of Colombia. Four of them had been diagnosed with glaucoma. In addition, two healthyvolunteers from the island were included.Results:Of the 198 single nucleotide variants associated with glaucoma, previously reported by theDisGeNET database, four were identified in members of the Raizal family: rs11938093,rs7336216, rs3817672, and rs983034. Furthermore, single nucleotide variant rs983034 wasidentified in the Wnt ligand secretion mediator gene in all members of the family but not inhealthy volunteers. Notably, WLS dysfunctions have been linked to pathology in the trabecularmeshwork of the eye. Trabecular meshwork is an important regulator of the outflow of aqueoushumor that maintains intraocular pressure (intraocular pressure) at normal levels. Damageto trabecular meshwork is associated with ocular hypertension, which leads to glaucomaprogression. In relation to the other single nucleotide variants that were identified, theirpresence was confirmed in some members of the Raizal family. However, it is still unclear thepathophysiological cause that associates these single nucleotide variants with glaucoma.Conclusions:It was possible to identify four non-synonymous single nucleotide variants that predictsignificant damage to the structure and function of genes associated with glaucomapathology in an Afro-Colombian.

【 授权许可】

CC BY