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Editors Selection IGR 12-4
Genetics: Gene encoding in XFG
Comment by Rand Allingham on:
19599 Genome-wide scan of exfoliation syndrome, Lemmelä S; Forsman E; Sistonen P et al., Investigative Ophthalmology and Visual Science, 2007; 48: 4136-4142
In this paper Lemmelä et al. (1007) report their findings in a well-designed genetic linkage study of exfoliation syndrome (XFS, AKA pseudoexfoliation syndrome) in an extended Finnish pedigree. A total of 64 individuals, 28 affected with either XFS or exfoliation glaucoma (XFG), from an extended dataset of 183 family members were utilized. This genome-wide analysis utilized 1000 microsatellite markers. A locus on chromosome18q produced a LOD score of 3.4 (LOD score of 3.0 is considered consistent with linkage). Several other chromosomal loci also produced suggestive evidence for linkage. Of interest, one marker on chromosome 15q21 produced a LOD a mildly elevated LOD score. This marker is near the location of a gene called LOXL1 on 15q24. In a recent paper, Thorleifsson and co-workers reported the results of a high throughput genome-wide association study that determined variants of this gene are a major genetic component of XFS/XFG. (See companion review of the paper by Thorleifsson et al.) It is likely that variants in LOXL1, identified in the Icelandic and Swedish populations, are major contributors in this nearby Scandinavian population. Future studies will be needed to explore the role of LOXL1 in this Finnish family and whether the newly described loci contribute to the phenotype of XFS/XFG.
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