Análisis de la asociación del gen PAX6 en la región cromosómica 11p13 en pacientes con miopía alta atendidos en la clínica de optometría USTA

Abstract

Myopia is the most common eye disorder in human populations that has become a public health problem. According to genetic studies, the chromosomal region 11p13 has been the target of research, in which the PAX6 gene is involved in oculogenesis, and in the growth of the eyeball, directly related to high myopia. In Colombia, no studies of this type are reported that allow us to know the genetic origin of high myopia. This is an observational, analytical case-control study; The population consisted of patients treated at the USTA between 2006 and 2013, they met an age range between 18 and 53 years, with myopia greater than 5 diopters and the controls did not present high myopia. The sample size used was calculated with an Alpha of 5%, Power of 20%; with a case: control ratio 1: 3, in this way there were 11 cases and 37 controls for a total of 48 participants; Optometric examinations were performed and a blood sample was obtained for genetic evaluation. In the optometry results it was found that in the cases there were spheres greater than 4 diopters and in the controls the values ​​were 0 diopters, in relation to the axial length it was found that in the cases the anteroposterior axis was longer compared to the controls. Taking into account the examinations carried out, it is defined that the values ​​are those expected for this type of cases in both the dioptric value and that of the axial length found in the study participants. At the genetic level, after carrying out the respective analysis, it was found that there is no significant association of the SNP rs667773 with high myopia in the studied population.