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Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Publication ,  Journal Article
Liu, Y; Hauser, MA; Akafo, SK; Qin, X; Miura, S; Gibson, JR; Wheeler, J; Gaasterland, DE; Challa, P; Herndon, LW; Ritch, R; Moroi, SE ...
Published in: Invest Ophthalmol Vis Sci
September 17, 2013

PURPOSE: Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG. METHODS: We genotyped DNA samples from two populations: African American (1150 cases and 999 controls) and those from Ghana, West Africa (483 cases and 593 controls). Our analysis included 57 single nucleotide polymorphisms (SNPs) in five loci previously associated with POAG at the genome-wide level, including CDKN2B-AS1, TMCO1, CAV1/CAV2, chromosome 8q22 intergenic region, and SIX1/SIX6. We evaluated association in the full datasets, as well as subgroups with normal pressure glaucoma (NPG, maximum IOP ≤21 mm Hg) and high pressure glaucoma (HPG, IOP >21 mm Hg). RESULTS: In African Americans, we identified an association of rs10120688 in the CDNK2B-AS1 region with POAG (P = 0.0020). Several other SNPs were nominally associated, but did not survive correction for multiple testing. In the subgroup analyses, significant associations were identified for rs10965245 (P = 0.0005) in the CDKN2B-AS1 region with HPG and rs11849906 in the SIX1/SIX6 region with NPG (P = 0.006). No significant association was identified with any loci in the Ghanaian samples. CONCLUSIONS: POAG genetic susceptibility alleles associated in Caucasians appear to play a greatly reduced role in populations of African ancestry. Thus, the major genetic components of POAG of African origin remain to be identified. This finding underscores the critical need to pursue large-scale genome-wide association studies in this understudied, yet disproportionately affected population.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

September 17, 2013

Volume

54

Issue

9

Start / End Page

6248 / 6254

Location

United States

Related Subject Headings

  • Trans-Activators
  • Risk Factors
  • RNA, Long Noncoding
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins
  • Humans
 

Citation

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Liu, Y., Hauser, M. A., Akafo, S. K., Qin, X., Miura, S., Gibson, J. R., … Allingham, R. R. (2013). Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci, 54(9), 6248–6254. https://doi.org/10.1167/iovs.13-12779
Liu, Yutao, Michael A. Hauser, Stephen K. Akafo, Xuejun Qin, Shiroh Miura, Jason R. Gibson, Joshua Wheeler, et al. “Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.Invest Ophthalmol Vis Sci 54, no. 9 (September 17, 2013): 6248–54. https://doi.org/10.1167/iovs.13-12779.
Liu Y, Hauser MA, Akafo SK, Qin X, Miura S, Gibson JR, et al. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013 Sep 17;54(9):6248–54.
Liu, Yutao, et al. “Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.Invest Ophthalmol Vis Sci, vol. 54, no. 9, Sept. 2013, pp. 6248–54. Pubmed, doi:10.1167/iovs.13-12779.
Liu Y, Hauser MA, Akafo SK, Qin X, Miura S, Gibson JR, Wheeler J, Gaasterland DE, Challa P, Herndon LW, International Consortium of African Ancestry REsearch in Glaucoma, Ritch R, Moroi SE, Pasquale LR, Girkin CA, Budenz DL, Wiggs JL, Richards JE, Ashley-Koch AE, Allingham RR. Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013 Sep 17;54(9):6248–6254.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

September 17, 2013

Volume

54

Issue

9

Start / End Page

6248 / 6254

Location

United States

Related Subject Headings

  • Trans-Activators
  • Risk Factors
  • RNA, Long Noncoding
  • Polymorphism, Single Nucleotide
  • Ophthalmology & Optometry
  • Middle Aged
  • Membrane Proteins
  • Male
  • Intracellular Signaling Peptides and Proteins
  • Humans