LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients

BMC Medical Genetics
Lydia ÁlvarezMiguel Coca-Prados

Abstract

LOXL1 gene is the most important genetic risk factor known so far for pseudoexfoliation glaucoma (XFG). Our purpose was to evaluate the potential association of individual genetic variants of the lysyl oxidase-like 1 (LOXL1) gene and haplotypes with XFG in Spanish patients. Blood samples were collected from a total of 105 Spanish patients with XFG and 200 healthy controls. The entire LOXL1 gene along with the promoter, coding and non-coding regions including the 5'- and 3'-untranslated regions, were sequenced using next-generation sequencing in 99 XFG patients. SNPs rs16958477 (promoter), rs1048661 (exon 1), rs3825942 (exon 1), rs2165241 (intron 1) and rs3522 (exon 7) in LOXL1 were genotyped by restriction fragment-length polymorphism (RFLP) in all Spanish control participants and in six additional XFG patients, and a case-control association study was performed. Comparisons of the allelic and genotypic frequencies were performed using standard χ(2) test with Bonferroni and Pearson corrections. Logistic regression analyses were permormed using Sigmaplot v11. Haplotypes frequencies were performed using HaploView 4.0. Sequencing of the LOXL1 gene in XFG participants identified a total of 212 SNPs, of which 49 exhibited allelic fr...Continue Reading

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Citations

Jul 3, 2018·BMJ Open Ophthalmology·Yacouba CisséTing Meng
May 31, 2018·Molecular Medicine Reports·Hong-Wei WangFeng Gao
Feb 20, 2020·Experimental Eye Research·Alison G GreeneDeborah M Wallace

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Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

Samtools
SPSS
HiScanSQ
house
PLINK
Ensembl
HaploView
Sigmaplot

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