Abstract
In this study, three single-nucleotide polymorphisms (SNPs) on the lysyl oxidase-like 1 (LOXL1) gene associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) were investigated in the Finnish population. A case–control study of 59 sporadic patients with XFS, 82 with XFG, 71 with primary open-angle glaucoma (POAG) and 26 individuals without these disorders from the southern Finnish population, and a family study of an extended family with 28 patients with XFS or XFG and 92 unaffected relatives from Kökar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n=404) were studied as population-based controls. Three SNPs, rs1048661 (R141L), rs3825942 (G153D) and rs2165241, of the LOXL1 gene were genotyped by PCR sequencing. Association and linkage analyses were carried out. In both case–control and family materials, significant association for allele G of rs1048661 (P=2.65 × 10−5; P=0.0007), allele G of rs3825942 (P=2.24 × 10−8; P=0.49) and allele T of rs2165241 (P=2.62 × 10−13; P<0.0001) was found in XFS/XFG. However, linkage was not observed for LOXL1 risk alleles. The corresponding three-locus haplotype GGT increased the risk of XFS/ XFG nearly 15-fold relative to low-risk haplotype GAC (odds ratio (OR): 14.9, P=1.6 × 10−16). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.
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Acknowledgements
We thank the patients for their participation. This work was financially supported by the Medical Society of Finland, Helsinki, Finland; Eye and Tissue Bank of Finland, Helsinki, Finland; the Emil Aaltonen Foundation, Tampere, Finland; the Maud Kuistila Foundation, Helsinki, Finland; Biomedicum Helsinki Foundation, Helsinki, Finland; and the Åland Culture Foundation, Åland, Finland.
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Lemmelä, S., Forsman, E., Onkamo, P. et al. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet 54, 289–297 (2009). https://doi.org/10.1038/jhg.2009.28
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DOI: https://doi.org/10.1038/jhg.2009.28
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