Lack of Association between<i>LOXL1</i>Variants and Primary Open-Angle Glaucoma in Three Different Populations

Liu, Yutao; Schmidt, Silke; Qin, Xuejun; Gibson, Jason; Hutchins, Kristen; Santiago-Turla, Cecilia; Wiggs, Janey L.; Budenz, Donald L.; Akafo, Stephen; Challa, Pratap; Herndon, Leon W.; Hauser, Michael A.; Allingham, R. Rand

doi:10.1167/iovs.08-1850

Cited by 50 publications

(50 citation statements)

References 24 publications

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“…26,38,39 On the basis of the current data, POAG is a genuinely multifactorial disease, and so far at least 20 genetic loci for POAG have been reported. 40 In contrast to the Caucasians, LOXL1 allele and haplotype distribution is different in the Japanese population.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

confidence: 99%

Association of LOXL1 gene with Finnish exfoliation syndrome patients

et al. 2009

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“…7,14 However, reports on these associations, such as those for optic atrophy 1 (OPA1), are often conflicting in the different studies, probably due to small samples or ethnic differences. 15,16 Thus, further evaluation of these genes is warranted in larger samples and different populations.…”

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Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open-Angle Glaucoma

Fan

Liu

Wang

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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“…1 Several subsequent studies analysed this putative relationship between LOXL1 and POAG or pigmentary glaucoma (PG) in additional populations but failed to detect any significant association. 8,[17][18][19] Conflicting results are common in candidate gene association studies and most often owing to either inappropriate control populations or small sample sizes that are insufficient to reach statistical power. Therefore we aimed to analyse whether we would be able not only to confirm the association between LOXL1 and XFG in the German population but also to find a weak (if any) association between LOXL1 and 2 homogenous samples of German patients with either the normal tension subgroup of POAG or pigmentary glaucoma.…”

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Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma

Wolf

Gramer

Müller‐Myhsok

et al. 2010

Journal of Glaucoma

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Our study reveals that in the German population the LOXL1 genetic predisposition is limited to exfoliation glaucoma and does not include normal tension glaucoma. In addition, our study implicates that LOXL1 polymorphisms are not likely to have a major influence on the pathophysiology of pigmentary glaucoma. However, 1 nonsynonymous polymorphism may serve as a predictor of age at disease onset in pigmentary glaucoma.

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Lack of Association betweenLOXL1Variants and Primary Open-Angle Glaucoma in Three Different Populations

Cited by 50 publications

References 24 publications

Association of LOXL1 gene with Finnish exfoliation syndrome patients

Association of LOXL1 gene with Finnish exfoliation syndrome patients

Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open-Angle Glaucoma

Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma

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