Chronic Open-Angle Glaucoma and Associated Ophthalmic Findings in Monozygotic Twins and Their Spouses in Iceland

Gottfreðsdóttir, María Soffía; Sverrisson, Thordur; Musch, David C.; Stefánsson, Einar

doi:10.1097/00061198-199904000-00009

Cited by 65 publications

(43 citation statements)

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“…The involvement of genetic factors in the pathogenesis of PEX was initially supported by evidence of strong familial aggregation [19,20]. However, a simple inheritance model has not been identified, which suggests a complex inheritance pattern resulting from interplay of multiple genetic and environmental factors [21].…”

Section: Pathogenesismentioning

confidence: 99%

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Anastasopoulos

Founti

Topouzis

2015

Current Opinion in Ophthalmology

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Despite the high prevalence of the LOXL1 variants in the general population, a much lower proportion of the population develops PEX, suggesting that in addition to LOXL1, other genetic, epigenetic and environmental factors may contribute to the development of PEX. Also, LOXL1 cannot help to identify those with PEX at increased risk for glaucoma development. Increased risk for glaucoma development in PEX patients who present with increased IOP may be related to other factors beyond IOP, contributing to increased vulnerability of the optic nerve to glaucoma development in the presence of PEX.

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Section: Pathogenesismentioning

confidence: 99%

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Anastasopoulos

Founti

Topouzis

2015

Current Opinion in Ophthalmology

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“…6 Familial aggregation and twin studies suggested genetic contribution to XFS. [7][8][9][10] A genome-wide association study in the Icelandic population showed three single-nucleotide polymorphisms (SNPs), rs1048661 (R141L), rs3825942 (G153D) and rs2165241, on lysyl oxidase-like 1 (LOXL1) gene, on 15q24.1, to be strongly associated with XFS and XFG, but not with primary open-angle glaucoma (POAG). 11 The association between LOXL1 polymorphisms and XFG was further confirmed in the Swedish population.…”

Section: Introductionmentioning

confidence: 99%

Association of LOXL1 gene with Finnish exfoliation syndrome patients

et al. 2009

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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 Kö kar islands, Southwestern Finnish archipelago, were conducted. Anonymous blood donors (n¼404) 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 (P¼2.65Â10 À5 ; P¼0.0007), allele G of rs3825942 (P¼2.24Â10 À8 ; P¼0.49) and allele T of rs2165241 (P¼2.62Â10 À13 ; Po0.0001) 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, P¼1.6Â10 À16 ). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population.

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“…Q is assigned to be the frequency of the allele associated with the displaced distribution so that in the three-distribution model, under HWE, the proportions of the population within each of the distributions are (1 -Q) 2 , 2Q(1 -Q), and Q 2 . However, the program also allows deviation from HWE by introducing an inbreeding coefficient F, so that the proportions within the distributions become (1 -Q) 2 …”

Section: Discussionmentioning

confidence: 99%

Commingling Analyses of Central Corneal Thickness and Adjusted Intraocular Pressure in an Older Australian Population

Rahman

Bunce

Healey

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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Chronic Open-Angle Glaucoma and Associated Ophthalmic Findings in Monozygotic Twins and Their Spouses in Iceland

Cited by 65 publications

References 0 publications

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Update on pseudoexfoliation syndrome pathogenesis and associations with intraocular pressure, glaucoma and systemic diseases

Association of LOXL1 gene with Finnish exfoliation syndrome patients

Commingling Analyses of Central Corneal Thickness and Adjusted Intraocular Pressure in an Older Australian Population

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