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Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma

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Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. / Wolf, Christiane; Gramer, Eugen; Müller-Myhsok, Bertram; Pasutto, Francesca; Gramer, Gwendolyn; Wissinger, Bernd; Weisschuh, Nicole.

In: J GLAUCOMA, Vol. 19, No. 2, 02.2010, p. 136-41.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Wolf, C, Gramer, E, Müller-Myhsok, B, Pasutto, F, Gramer, G, Wissinger, B & Weisschuh, N 2010, 'Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma', J GLAUCOMA, vol. 19, no. 2, pp. 136-41. https://doi.org/10.1097/IJG.0b013e31819f9330

APA

Wolf, C., Gramer, E., Müller-Myhsok, B., Pasutto, F., Gramer, G., Wissinger, B., & Weisschuh, N. (2010). Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J GLAUCOMA, 19(2), 136-41. https://doi.org/10.1097/IJG.0b013e31819f9330

Vancouver

Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B et al. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. J GLAUCOMA. 2010 Feb;19(2):136-41. https://doi.org/10.1097/IJG.0b013e31819f9330

Bibtex

@article{3e8723eb1dd34721aec7ef62ef3483df,
title = "Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma",
abstract = "PURPOSE: To evaluate the association between lysyl-oxidase-like 1 (LOXL1) gene polymorphisms and exfoliation glaucoma, pigmentary glaucoma and normal tension glaucoma in a case-control cohort of German patients.METHODS: Six single nucleotide polymorphisms in a 22 kb genomic region encompassing the LOXL1 gene plus an additional {"}outlier{"} single nucleotide polymorphism located approximately 1.1 Mb upstream of LOXL1 were genotyped in 128 exfoliation glaucoma patients, 88 pigmentary glaucoma patients, 273 normal tension glaucoma patients, and 280 healthy control subjects either with TaqMan allelic discrimination assays or by direct sequencing, and a genetic association study was performed.RESULTS: For the exfoliation glaucoma cases, case-control allelic association for 6 single nucleotide polymorphisms were highly significant. In contrast, there were no genotypic differences between pigmentary glaucoma cases, normal tension glaucoma cases and controls. However, an association between rs1048661 genotype and age at disease onset was suggested for pigmentary glaucoma patients.CONCLUSIONS: 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.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Oxidoreductases/genetics, Case-Control Studies, Child, Exfoliation Syndrome/genetics, Female, Genotype, Germany, Glaucoma, Open-Angle/genetics, Humans, Low Tension Glaucoma/genetics, Male, Middle Aged, Polymorphism, Single Nucleotide, Young Adult",
author = "Christiane Wolf and Eugen Gramer and Bertram M{\"u}ller-Myhsok and Francesca Pasutto and Gwendolyn Gramer and Bernd Wissinger and Nicole Weisschuh",
year = "2010",
month = feb,
doi = "10.1097/IJG.0b013e31819f9330",
language = "English",
volume = "19",
pages = "136--41",
number = "2",

}

RIS

TY - JOUR

T1 - Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma

AU - Wolf, Christiane

AU - Gramer, Eugen

AU - Müller-Myhsok, Bertram

AU - Pasutto, Francesca

AU - Gramer, Gwendolyn

AU - Wissinger, Bernd

AU - Weisschuh, Nicole

PY - 2010/2

Y1 - 2010/2

N2 - PURPOSE: To evaluate the association between lysyl-oxidase-like 1 (LOXL1) gene polymorphisms and exfoliation glaucoma, pigmentary glaucoma and normal tension glaucoma in a case-control cohort of German patients.METHODS: Six single nucleotide polymorphisms in a 22 kb genomic region encompassing the LOXL1 gene plus an additional "outlier" single nucleotide polymorphism located approximately 1.1 Mb upstream of LOXL1 were genotyped in 128 exfoliation glaucoma patients, 88 pigmentary glaucoma patients, 273 normal tension glaucoma patients, and 280 healthy control subjects either with TaqMan allelic discrimination assays or by direct sequencing, and a genetic association study was performed.RESULTS: For the exfoliation glaucoma cases, case-control allelic association for 6 single nucleotide polymorphisms were highly significant. In contrast, there were no genotypic differences between pigmentary glaucoma cases, normal tension glaucoma cases and controls. However, an association between rs1048661 genotype and age at disease onset was suggested for pigmentary glaucoma patients.CONCLUSIONS: 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.

AB - PURPOSE: To evaluate the association between lysyl-oxidase-like 1 (LOXL1) gene polymorphisms and exfoliation glaucoma, pigmentary glaucoma and normal tension glaucoma in a case-control cohort of German patients.METHODS: Six single nucleotide polymorphisms in a 22 kb genomic region encompassing the LOXL1 gene plus an additional "outlier" single nucleotide polymorphism located approximately 1.1 Mb upstream of LOXL1 were genotyped in 128 exfoliation glaucoma patients, 88 pigmentary glaucoma patients, 273 normal tension glaucoma patients, and 280 healthy control subjects either with TaqMan allelic discrimination assays or by direct sequencing, and a genetic association study was performed.RESULTS: For the exfoliation glaucoma cases, case-control allelic association for 6 single nucleotide polymorphisms were highly significant. In contrast, there were no genotypic differences between pigmentary glaucoma cases, normal tension glaucoma cases and controls. However, an association between rs1048661 genotype and age at disease onset was suggested for pigmentary glaucoma patients.CONCLUSIONS: 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.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Amino Acid Oxidoreductases/genetics

KW - Case-Control Studies

KW - Child

KW - Exfoliation Syndrome/genetics

KW - Female

KW - Genotype

KW - Germany

KW - Glaucoma, Open-Angle/genetics

KW - Humans

KW - Low Tension Glaucoma/genetics

KW - Male

KW - Middle Aged

KW - Polymorphism, Single Nucleotide

KW - Young Adult

U2 - 10.1097/IJG.0b013e31819f9330

DO - 10.1097/IJG.0b013e31819f9330

M3 - SCORING: Journal article

C2 - 19373106

VL - 19

SP - 136

EP - 141

IS - 2

ER -