Association of LOXL1 gene with Finnish exfoliation syndrome patients

作者：Lemmela Susanna^*; Forsman Eva; Onkamo Paivi; Nurmi Hanna; Laivuori Hannele; Kivela Tero; Puska Paivi; Heger Martin; Eriksson Aldur; Forsius Henrik; Jarvela Irma

来源：Journal of Human Genetics, 2009, 54(5): 289-297.

DOI：10.1038/jhg.2009.28

• association
• exfoliation glaucoma
• exfoliation syndrome
• linkage
• LOXL1 gene
• polymorphism
• primary open-angle glaucoma

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 (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. Journal of Human Genetics (2009) 54, 289-297; doi:10.1038/jhg.2009.28; published online 3 April 2009

• 出版日期2009-5