title: Association of LOXL1 gene with Finnish exfoliation syndrome patients.
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 x 10(-5); P=0.0007), allele G of rs3825942 (P=2.24 x 10(-8); P=0.49) and allele T of rs2165241 (P=2.62 x 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 x 10(-16)). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fi
authors.forename: Susanna
authors.initials: S
authors.lastname: Lemmelä
authors.forename: Eva
authors.initials: E
authors.lastname: Forsman
authors.forename: Päivi
authors.initials: P
authors.lastname: Onkamo
authors.forename: Hanna
authors.initials: H
authors.lastname: Nurmi
authors.forename: Hannele
authors.initials: H
authors.lastname: Laivuori
authors.forename: Tero
authors.initials: T
authors.lastname: Kivelä
authors.forename: Päivi
authors.initials: P
authors.lastname: Puska
authors.forename: Martin
authors.initials: M
authors.lastname: Heger
authors.forename: Aldur
authors.initials: A
authors.lastname: Eriksson
authors.forename: Henrik
authors.initials: H
authors.lastname: Forsius
authors.forename: Irma
authors.initials: I
authors.lastname: Järvelä