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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Publication ,  Journal Article
Gharahkhani, P; Burdon, KP; Fogarty, R; Sharma, S; Hewitt, AW; Martin, S; Law, MH; Cremin, K; Bailey, JNC; Loomis, SJ; Pasquale, LR; White, AJ ...
Published in: Nat Genet
October 2014

Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10(-19)), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10(-10)) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10(-10)). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 2014

Volume

46

Issue

10

Start / End Page

1120 / 1125

Location

United States

Related Subject Headings

  • United States
  • Risk Factors
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Microfilament Proteins
  • Meta-Analysis as Topic
  • Male
  • Immunoblotting
  • Hydro-Lyases
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Gharahkhani, P., Burdon, K. P., Fogarty, R., Sharma, S., Hewitt, A. W., Martin, S., … Craig, J. E. (2014). Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet, 46(10), 1120–1125. https://doi.org/10.1038/ng.3079
Gharahkhani, Puya, Kathryn P. Burdon, Rhys Fogarty, Shiwani Sharma, Alex W. Hewitt, Sarah Martin, Matthew H. Law, et al. “Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.Nat Genet 46, no. 10 (October 2014): 1120–25. https://doi.org/10.1038/ng.3079.
Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, et al. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014 Oct;46(10):1120–5.
Gharahkhani, Puya, et al. “Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.Nat Genet, vol. 46, no. 10, Oct. 2014, pp. 1120–25. Pubmed, doi:10.1038/ng.3079.
Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JNC, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR, Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium, Mills RA, Wang JJ, Montgomery GW, Martin NG, RadfordSmith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, MacGregor S, Craig JE. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014 Oct;46(10):1120–1125.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

October 2014

Volume

46

Issue

10

Start / End Page

1120 / 1125

Location

United States

Related Subject Headings

  • United States
  • Risk Factors
  • Reverse Transcriptase Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Microfilament Proteins
  • Meta-Analysis as Topic
  • Male
  • Immunoblotting
  • Hydro-Lyases