School of Medicine and Health Sciences Poster Presentations

Title

The Use of Single Nucleotide Polymorphisms in LOXL1 as a genetic marker for Pseudoexfoliation Syndrome in Ethiopian Patients

Poster Number

187

Document Type

Poster

Status

Medical Student

Abstract Category

Clinical Specialties

Keywords

Ophthalmology, Pseudoexfoliation Syndrome

Publication Date

Spring 2018

Abstract

Pseudoexfoliation Syndrome (PEX) is a systemic disease characterized by fibrillary, proteinaceous deposits that accumulate preferentially in the eyes. It is the most common cause of secondary open angle glaucoma worldwide and has been shown to have a strong association to single nucleotide polymorphisms in the lysyl oxidase-like 1 (LOXL1) gene found on chromosome 15q24.1. These mutations have been previously seen in Swedish and Icelandic populations. We are interested in studying the large population of Ethiopian patients at the Medical Faculty Associates (MFA), who have a high prevalence of PEX. The main goal of the study is to assess variations in the LOXL1 gene among this patient population, and its correlation to PEX. Blood samples will be drawn and sent for genetic testing, and we will analyze for different polymorphisms. Patients will first be recruited—about 80 subjects will be involved in the study. 20 patients will also be recruited without PEX to serve as a control. Blood samples will be drawn and genome analysis will be performed to study variations within the LOXL1 gene.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Open Access

1

This document is currently not available here.

Share

COinS
 

The Use of Single Nucleotide Polymorphisms in LOXL1 as a genetic marker for Pseudoexfoliation Syndrome in Ethiopian Patients

Pseudoexfoliation Syndrome (PEX) is a systemic disease characterized by fibrillary, proteinaceous deposits that accumulate preferentially in the eyes. It is the most common cause of secondary open angle glaucoma worldwide and has been shown to have a strong association to single nucleotide polymorphisms in the lysyl oxidase-like 1 (LOXL1) gene found on chromosome 15q24.1. These mutations have been previously seen in Swedish and Icelandic populations. We are interested in studying the large population of Ethiopian patients at the Medical Faculty Associates (MFA), who have a high prevalence of PEX. The main goal of the study is to assess variations in the LOXL1 gene among this patient population, and its correlation to PEX. Blood samples will be drawn and sent for genetic testing, and we will analyze for different polymorphisms. Patients will first be recruited—about 80 subjects will be involved in the study. 20 patients will also be recruited without PEX to serve as a control. Blood samples will be drawn and genome analysis will be performed to study variations within the LOXL1 gene.