Analysis Of LOXL1 Polymorphisms In An Israel Population

Abstract

 

Purpose:

 

To identify if recently described LOXL1 (lysyl oxidase-like 1) polymorphisms are associated with pseudoexfoliation glaucoma (XFG) in the Israeli population.

 

Methods:

 

Israeli subjects (total n=268) with XFG (n=92), POAG (n=74), and age matched unaffected controls (n=102) were recruited from the Goldschleger Eye Institute, Sheba Medical Center, Israel, using standard clinical examination techniques. The allele frequencies of the LOXL1 identified sequence variants were compared between XFG or POAG and controls using Fisher’s exact test.

 

Results:

 

Two LOXL1 single-nucleotide polymorphisms (SNPs) rs1048661: R141L and rs3825942: G153D were genotyped and a strong association was seen in XFG patients with or without glaucoma, independent of their geographic origin. The allele frequencies of both rs3825942 and rs1048661differed significantly between the XFG and control subjects (p=2.6×10^-5 and 0.0024, respectively) but not between POAG and controls.

 

Conclusions:

 

This is the first genetic analysis of LOXL1 in an Israel patient population. We have found that genetic variants in LOXL1 confer risk to XFG in the Israeli population similar to what was previously reported for European, USA and Australian populations. However, due to the high frequency of risk alleles in non-XFG individuals, this association should not form the basis of a diagnostic test for XFG. It is likely that additional genetic or environmental factors modulate the penetrance of LOXL1 susceptibility alleles.

 

Keywords: genetics