Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India

TLDR: Out of the two non-synonymous SNPs in exon 1 of the LOXL1 gene, rs3825942 has a significant association with XFS cases in the patients of the southern Indian population, the first Asian study replicating the European studies.

Abstract: Pseudoexfoliation syndrome (XFS) is an age-related,systemic, elastic microfibrillopathy affecting both intraocularand extraocular tissues [1]. In the eye, XFS is characterizedby the presence of fibrogranular extracellular debris in theanterior segment, which is composed of a complexglycoprotein–proteoglycan structure having epitopes of abasement membrane, elastic fiber system, and components ofelastic microfibrils [ 2]. The average worldwide prevalence ofXFS is 10%–20% of the general population over the age of 60years. However, studies have shown much higher prevalencein certain populations like Scandinavian countries and Greece[3-5].Glaucoma, the second most common cause of blindness,is a heterogeneous group of disorders characterized by opticnerve damage [ 6]. XFS is the most common identifiable causeof secondary glaucoma such as pseudoexfoliation glaucoma(XFG), which is due to the accumulation of the exfoliativematerial [ 7]. The risk of XFS converting to XFG over a periodof 15 years is about 60% [8,9].Linkage studies on a large Finnish family showing anautosomal dominant mode of inheritance for XFS traitidentified a locus, 18q12.1–21.33, with a two point LOD scoreof 3.45 and a multipoint LOD score of 4.2 and few other loci