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

Show simple item record Liu, Y. Hauser, M.A. Akafo, S.K. Qin, X. Miura, S. Gibson, J.R. Wheeler, J. Gaasterland, D.E. Challa, P. Herndon, L.W. Ritch, R. Moroi, S.E. Pasquale, L.R. Girkin, C.A. Budenz, D.L. Wiggs, J.L. Richards, J.E. Ashley-Koch, A.E. Allingham, R.R. 2018-12-06T15:11:11Z 2018-12-06T15:11:11Z 2013-08
dc.identifier.other DOI: 10.1167/iovs.13-12779
dc.description.abstract 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. © 2013 The Association for Research in Vision and Ophthalmology, Inc. en_US
dc.language.iso en en_US
dc.publisher Investigative Ophthalmology and Visual Science en_US
dc.subject African en_US
dc.subject African American en_US
dc.subject Association en_US
dc.subject Genetics en_US
dc.subject POAG en_US
dc.title Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry en_US
dc.type Article en_US

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