Lysyl oxidase-like 1 polymorphisms in a southwestern Greek cataract population with pseudoexfoliation syndrome

Abstract

PurposeThe aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome.Patients and methodsNinety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction.ResultsThe G allele of rs1048661 was found in 96.7% in the PEX group as compared to 80.5% of non-PEX alleles (P=19×10−4; Odds ratio [OR] =5.37; 95% confidence interval [CI] =1.68–17.12). Similarly, the G allele of rs3825942 was found in 72.1% of the PEX group as compared to 41.8% of non-PEX alleles (P=4×10−5; OR =3.78; 95% CI =1.98–7.23). The T and A allele frequencies of rs1048661 and rs3825942, respectively, were underrepresented in the PEX group patients as compared to non-PEX group.ConclusionOur data confirm previously reported association between LOXL1 polymorphisms and PEX syndrome in a southwestern Greek population. A significant association was found for the G allele of rs1048661 and rs3825942 demonstrating that the GG haplotype is a high-risk factor for the development of PEX syndrome.

Association of single nucleotide polymorphism in the loxl1 gene with pseudoexfoliation syndrome in northwestern Rajasthan

“…• rs10486(G) Single Nucleotide Polymorphism was found in 47(94%) cases and 9(18%) control subjects and this difference was statistically highly significant (p = 0.001). A study conducted by Panoutsopoulos et al 18 in 2016 also found a significant association for the G allele of rs10486 with high risk of development of PXF syndrome. While, this is in contrast to a study done at Aravind eye hospital by Ramprasad et al [19] in 2007 where they did not find any significant association of PEX syndrome with rs10486 SNP.…”

Study of the functional significance of polymorphic loci of the LOXL1 gene associated with glaucoma according to genome-wide studies (in silico analysis)

“…[38] изучен материал различных тканей глаза -радужной оболочки, хрусталика, цилиарного тела -от 25 пациентов с ПЭС/ПЭГ и 25 индивидуумов из группы контроля, установлено уменьшение уровня экспрессии гена LOXL1 в тканях глаза на 20% на каждый рисковый аллель полиморфизма rs1048661. Исследования в разных популяциях показали значимые ассоциации rs1048661 гена LOXL1 с развитием ПЭС/ПЭГ [21,39,40] и ПОУГ [41]. Однако обращает на себя внимание тот факт, что в этнически разных популяциях рисковое значение для ПЭС/ПЭГ имеют различные генетические варианты rs1048661 LOXL1: 141Arg -в европейских и южноафриканских популяциях, 141Leu -в восточноазиатских.…”