Tags

Type your tag names separated by a space and hit enter

Association of LOXL1 gene with Finnish exfoliation syndrome patients.
J Hum Genet. 2009 May; 54(5):289-97.JH

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+Show Affiliations

Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fiNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19343041

Citation

Lemmelä, Susanna, et al. "Association of LOXL1 Gene With Finnish Exfoliation Syndrome Patients." Journal of Human Genetics, vol. 54, no. 5, 2009, pp. 289-97.
Lemmelä S, Forsman E, Onkamo P, et al. Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet. 2009;54(5):289-97.
Lemmelä, S., Forsman, E., Onkamo, P., Nurmi, H., Laivuori, H., Kivelä, T., Puska, P., Heger, M., Eriksson, A., Forsius, H., & Järvelä, I. (2009). Association of LOXL1 gene with Finnish exfoliation syndrome patients. Journal of Human Genetics, 54(5), 289-97. https://doi.org/10.1038/jhg.2009.28
Lemmelä S, et al. Association of LOXL1 Gene With Finnish Exfoliation Syndrome Patients. J Hum Genet. 2009;54(5):289-97. PubMed PMID: 19343041.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of LOXL1 gene with Finnish exfoliation syndrome patients. AU - Lemmelä,Susanna, AU - Forsman,Eva, AU - Onkamo,Päivi, AU - Nurmi,Hanna, AU - Laivuori,Hannele, AU - Kivelä,Tero, AU - Puska,Päivi, AU - Heger,Martin, AU - Eriksson,Aldur, AU - Forsius,Henrik, AU - Järvelä,Irma, Y1 - 2009/04/03/ PY - 2009/4/4/entrez PY - 2009/4/4/pubmed PY - 2010/2/4/medline SP - 289 EP - 97 JF - Journal of human genetics JO - J. Hum. Genet. VL - 54 IS - 5 N2 - 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. SN - 1435-232X UR - https://www.unboundmedicine.com/medline/citation/19343041/Association_of_LOXL1_gene_with_Finnish_exfoliation_syndrome_patients_ DB - PRIME DP - Unbound Medicine ER -