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Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

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Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. / Hoehn, René; Zeller, Tanja; Verhoeven, Virginie J M; Grus, Franz; Adler, Max; Wolfs, Roger C; Uitterlinden, André G; Castagne, Raphaële; Schillert, Arne; Klaver, Caroline C W; Pfeiffer, Norbert; Mirshahi, Alireza.

in: HUM GENET, Jahrgang 131, Nr. 11, 11.2012, S. 1783-1793.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hoehn, R, Zeller, T, Verhoeven, VJM, Grus, F, Adler, M, Wolfs, RC, Uitterlinden, AG, Castagne, R, Schillert, A, Klaver, CCW, Pfeiffer, N & Mirshahi, A 2012, 'Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness', HUM GENET, Jg. 131, Nr. 11, S. 1783-1793. https://doi.org/10.1007/s00439-012-1201-3

APA

Hoehn, R., Zeller, T., Verhoeven, V. J. M., Grus, F., Adler, M., Wolfs, R. C., Uitterlinden, A. G., Castagne, R., Schillert, A., Klaver, C. C. W., Pfeiffer, N., & Mirshahi, A. (2012). Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. HUM GENET, 131(11), 1783-1793. https://doi.org/10.1007/s00439-012-1201-3

Vancouver

Hoehn R, Zeller T, Verhoeven VJM, Grus F, Adler M, Wolfs RC et al. Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. HUM GENET. 2012 Nov;131(11):1783-1793. https://doi.org/10.1007/s00439-012-1201-3

Bibtex

@article{e7d578ecd40d41ed92702252b7920841,
title = "Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness",
abstract = "Central corneal thickness (CCT) has become an endophenotype of major interest for the genetically complex disorder glaucoma. CCT has a high heritability, and thin CCT is an independent risk factor for the diagnosis and progression of open-angle glaucoma. Genome-wide association studies thus provide genetic loci associated with CCT and potentially related to open-angle glaucoma. The distribution of CCT and prevalence of glaucoma in population-based studies have demonstrated ethnic differences suggesting ethnic-dependent variations in the genetic determinants of CCT. We conducted a genome-wide association study in Caucasians (n = 3,931) from the Gutenberg Health Study (Germany) followed by replication of 30 genome-wide significant SNPs or SNPs of interest (P < 10(-5)) in the Rotterdam Study (The Netherlands, n = 1,418). In a combined analysis, we confirmed quantitative trait loci on chromosomes 9q34 and 16q24 for association with CCT. On chromosome 16q24, the locus is located in an intergenic region near the ZNF469 gene (top SNP: rs9938149, P = 1.45 × 10(-12)). ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). The second locus on chromosome 9q34 represents the intergenic region between the RXRA and COL5A1 gene (top SNP: rs3132306, P = 2.71 × 10(-10)). Collagen type 5 determines the diameter of the corneal collagen fibrils. In our Caucasian population-based GWA study, we reinforce the involvement of collagen-related genes influencing CCT in Caucasians. We could not confirm the collagen type 8 locus on chromosome 1 as reported in Asian studies.",
keywords = "Adult, Aged, Collagen Type V/genetics, Collagen Type VIII/genetics, Cornea/pathology, European Continental Ancestry Group/genetics, Genome-Wide Association Study, Germany/epidemiology, Glaucoma/epidemiology, Humans, Meta-Analysis as Topic, Middle Aged, Netherlands/epidemiology, Polymorphism, Single Nucleotide/genetics, Prospective Studies, Quantitative Trait Loci, Risk Factors, Transcription Factors/genetics",
author = "Ren{\'e} Hoehn and Tanja Zeller and Verhoeven, {Virginie J M} and Franz Grus and Max Adler and Wolfs, {Roger C} and Uitterlinden, {Andr{\'e} G} and Rapha{\"e}le Castagne and Arne Schillert and Klaver, {Caroline C W} and Norbert Pfeiffer and Alireza Mirshahi",
year = "2012",
month = nov,
doi = "10.1007/s00439-012-1201-3",
language = "English",
volume = "131",
pages = "1783--1793",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "11",

}

RIS

TY - JOUR

T1 - Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

AU - Hoehn, René

AU - Zeller, Tanja

AU - Verhoeven, Virginie J M

AU - Grus, Franz

AU - Adler, Max

AU - Wolfs, Roger C

AU - Uitterlinden, André G

AU - Castagne, Raphaële

AU - Schillert, Arne

AU - Klaver, Caroline C W

AU - Pfeiffer, Norbert

AU - Mirshahi, Alireza

PY - 2012/11

Y1 - 2012/11

N2 - Central corneal thickness (CCT) has become an endophenotype of major interest for the genetically complex disorder glaucoma. CCT has a high heritability, and thin CCT is an independent risk factor for the diagnosis and progression of open-angle glaucoma. Genome-wide association studies thus provide genetic loci associated with CCT and potentially related to open-angle glaucoma. The distribution of CCT and prevalence of glaucoma in population-based studies have demonstrated ethnic differences suggesting ethnic-dependent variations in the genetic determinants of CCT. We conducted a genome-wide association study in Caucasians (n = 3,931) from the Gutenberg Health Study (Germany) followed by replication of 30 genome-wide significant SNPs or SNPs of interest (P < 10(-5)) in the Rotterdam Study (The Netherlands, n = 1,418). In a combined analysis, we confirmed quantitative trait loci on chromosomes 9q34 and 16q24 for association with CCT. On chromosome 16q24, the locus is located in an intergenic region near the ZNF469 gene (top SNP: rs9938149, P = 1.45 × 10(-12)). ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). The second locus on chromosome 9q34 represents the intergenic region between the RXRA and COL5A1 gene (top SNP: rs3132306, P = 2.71 × 10(-10)). Collagen type 5 determines the diameter of the corneal collagen fibrils. In our Caucasian population-based GWA study, we reinforce the involvement of collagen-related genes influencing CCT in Caucasians. We could not confirm the collagen type 8 locus on chromosome 1 as reported in Asian studies.

AB - Central corneal thickness (CCT) has become an endophenotype of major interest for the genetically complex disorder glaucoma. CCT has a high heritability, and thin CCT is an independent risk factor for the diagnosis and progression of open-angle glaucoma. Genome-wide association studies thus provide genetic loci associated with CCT and potentially related to open-angle glaucoma. The distribution of CCT and prevalence of glaucoma in population-based studies have demonstrated ethnic differences suggesting ethnic-dependent variations in the genetic determinants of CCT. We conducted a genome-wide association study in Caucasians (n = 3,931) from the Gutenberg Health Study (Germany) followed by replication of 30 genome-wide significant SNPs or SNPs of interest (P < 10(-5)) in the Rotterdam Study (The Netherlands, n = 1,418). In a combined analysis, we confirmed quantitative trait loci on chromosomes 9q34 and 16q24 for association with CCT. On chromosome 16q24, the locus is located in an intergenic region near the ZNF469 gene (top SNP: rs9938149, P = 1.45 × 10(-12)). ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). The second locus on chromosome 9q34 represents the intergenic region between the RXRA and COL5A1 gene (top SNP: rs3132306, P = 2.71 × 10(-10)). Collagen type 5 determines the diameter of the corneal collagen fibrils. In our Caucasian population-based GWA study, we reinforce the involvement of collagen-related genes influencing CCT in Caucasians. We could not confirm the collagen type 8 locus on chromosome 1 as reported in Asian studies.

KW - Adult

KW - Aged

KW - Collagen Type V/genetics

KW - Collagen Type VIII/genetics

KW - Cornea/pathology

KW - European Continental Ancestry Group/genetics

KW - Genome-Wide Association Study

KW - Germany/epidemiology

KW - Glaucoma/epidemiology

KW - Humans

KW - Meta-Analysis as Topic

KW - Middle Aged

KW - Netherlands/epidemiology

KW - Polymorphism, Single Nucleotide/genetics

KW - Prospective Studies

KW - Quantitative Trait Loci

KW - Risk Factors

KW - Transcription Factors/genetics

U2 - 10.1007/s00439-012-1201-3

DO - 10.1007/s00439-012-1201-3

M3 - SCORING: Journal article

C2 - 22814818

VL - 131

SP - 1783

EP - 1793

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 11

ER -