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Editors Selection IGR 10-1
Clinical forms of glaucoma: Exfoliation syndrome and LOXL1 gene
Comment by Mansoor Sarfarazi on:
20628 Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma, Challa P; Schmidt S; Liu Y et al., Molecular Vision, 2008; 14: 146-149
Exfoliation syndrome (XFS) is an age-related condition that is often associated with glaucoma (XFG). The white-grayish exfoliation material is present in the eye and a number of other organs throughout the body thus, suggesting that XFS/XFG may be part of a systemic condition. A genetic locus has previously been reported for a group of Finnish families on chromosome 18, but its defective gene has not been identified as yet. Recently, a genome-wide study reported a strong association between exfoliation and the LOXL1 (Lysyl Oxidase-Like 1) gene polymorphisms on chromosome 15q24.1. The reported association between LOXL1 Single nucleotide polymorphisms (SNPs) was initially identified in a group of Icelandic and Swedish exfoliation patients. Interestingly, exfoliation patients with or without glaucoma showed a similar association with the LOXL1 polymorphisms, but no such association were reported between POAG and these SNPs. Challa et al. (283) in a confirmatory study that includes 50 XFG and 235 control American subjects. The authors genotyped a group of 13 LOXL1 SNPs and were able to show that the same association is also present in their American XFG cohort. The LOXL1 haplotype frequencies in this study were 32% for XFG and 21% in controls, an observation that is compatible with the original study in the Icelandic and Swedish patients. This study confirmed that LOXL1 gene association with XFG (or XFS) is so strong that only a limited number of XFG (or XFS) will be sufficient to detect it. Other recently published studies also confirms that XFS/ XFG association with LOXL1 polymorphisms is present in other American, European, Japanese and Australian populations. However, no such association exits for POAG or closed angle glaucoma subjects. Since XFG/XFS risk-alleles are also present in a large number of normal controls from these populations, the immediate clinical use of such association for genetic or diagnostic testing is not warranted at this time.
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