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Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Publication ,  Journal Article
Loomis, SJ; Kang, JH; Weinreb, RN; Yaspan, BL; Cooke Bailey, JN; Gaasterland, D; Gaasterland, T; Lee, RK; Lichter, PR; Budenz, DL; Liu, Y ...
Published in: Ophthalmology
February 2014

PURPOSE: The CAV1/CAV2 (caveolin 1 and caveolin 2) genomic region previously was associated with primary open-angle glaucoma (POAG), although replication among independent studies has been variable. The aim of this study was to assess the association between CAV1/CAV2 single nucleotide polymorphisms (SNPs) and POAG in a large case-control dataset and to explore associations by gender and pattern of visual field (VF) loss further. DESIGN: Case-control study. PARTICIPANTS: We analyzed 2 large POAG data sets: the Glaucoma Genes and Environment (GLAUGEN) study (976 cases, 1140 controls) and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium (2132 cases, 2290 controls). METHODS: We studied the association between 70 SNPs located within the CAV1/CAV2 genomic region in the GLAUGEN and NEIGHBOR studies, both genotyped on the Illumina Human 660WQuadv1C BeadChip array and imputed with the Markov Chain Haplotyping algorithm using the HapMap 3 reference panel. We used logistic regression models of POAG in the overall population and separated by gender, as well as by POAG subtypes defined by type of VF defect (peripheral or paracentral). Results from GLAUGEN and NEIGHBOR were meta-analyzed, and a Bonferroni-corrected significance level of 7.7 × 10(-4) was used to account for multiple comparisons. MAIN OUTCOME MEASURES: Overall POAG, overall POAG by gender, and POAG subtypes defined by pattern of early VF loss. RESULTS: We found significant associations between 10 CAV1/CAV2 SNPs and POAG (top SNP, rs4236601; pooled P = 2.61 × 10(-7)). Of these, 9 were significant only in women (top SNP, rs4236601; pooled P = 1.59 × 10(-5)). Five of the 10 CAV1/CAV2 SNPs were associated with POAG with early paracentral VF (top SNP, rs17588172; pooled P = 1.07 × 10(-4)), and none of the 10 were associated with POAG with peripheral VF loss only or POAG among men. CONCLUSIONS: CAV1/CAV2 SNPs were associated significantly with POAG overall, particularly among women. Furthermore, we found an association between CAV1/CAV2 SNPs and POAG with paracentral VF defects. These data support a role for caveolin 1, caveolin 2, or both in POAG and suggest that the caveolins particularly may affect POAG pathogenesis in women and in patients with early paracentral VF defects.

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Published In

Ophthalmology

DOI

EISSN

1549-4713

Publication Date

February 2014

Volume

121

Issue

2

Start / End Page

508 / 516

Location

United States

Related Subject Headings

  • Visual Fields
  • Vision Disorders
  • Sex Factors
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Loomis, S. J., Kang, J. H., Weinreb, R. N., Yaspan, B. L., Cooke Bailey, J. N., Gaasterland, D., … Wiggs, J. L. (2014). Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology, 121(2), 508–516. https://doi.org/10.1016/j.ophtha.2013.09.012
Loomis, Stephanie J., Jae H. Kang, Robert N. Weinreb, Brian L. Yaspan, Jessica N. Cooke Bailey, Douglas Gaasterland, Terry Gaasterland, et al. “Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.Ophthalmology 121, no. 2 (February 2014): 508–16. https://doi.org/10.1016/j.ophtha.2013.09.012.
Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, et al. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014 Feb;121(2):508–16.
Loomis, Stephanie J., et al. “Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.Ophthalmology, vol. 121, no. 2, Feb. 2014, pp. 508–16. Pubmed, doi:10.1016/j.ophtha.2013.09.012.
Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Pasquale LR, Wiggs JL. Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014 Feb;121(2):508–516.
Journal cover image

Published In

Ophthalmology

DOI

EISSN

1549-4713

Publication Date

February 2014

Volume

121

Issue

2

Start / End Page

508 / 516

Location

United States

Related Subject Headings

  • Visual Fields
  • Vision Disorders
  • Sex Factors
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Intraocular Pressure
  • Humans
  • Glaucoma, Open-Angle