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Abstract #24381 Published in IGR 11-3
Association of LOXL1 gene with Finnish exfoliation syndrome patients
Lemmela S; Forsman E; Onkamo P; Nurmi H; Laivuori H; Kivela T; Puska P; Heger M; Eriksson A; Forsius HJournal of Human Genetics 2009; 54: 289-297
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 Kokar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n404) 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 (P2.65 null 10 5; P0.0007), allele G of rs3825942 (P2.24 null 10 8; P0.49) and allele T of rs2165241 (P2.62 null 10 13; P0.0001) 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, P1.6 null 10 16). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.
Dr. S. Lemmela, Department of Medical Genetics, University of Helsinki, Biomedicum, Haartmaninkatu 8, Helsinki FI-00014, Finland. Susanna.lemmela@helsinki.fi
Classification:
9.4.4.1 Exfoliation syndrome (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.4 Glaucomas associated with disorders of the lens)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
