Abstract
Primary open-angle glaucoma (POAG) is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interest linked to POAG. This study is the largest genetic linkage study of POAG performed to date: genomic DNA samples from 786 subjects (538 Caucasian ancestry, 248 African ancestry) were genotyped using either the Illumina GoldenGate Linkage 4 Panel or the Illumina Infinium Human Linkage-12 Panel. A total of 5233 SNPs was analyzed in 134 multiplex POAG families (89 Caucasian ancestry, 45 African ancestry). Parametric and non-parametric linkage analyses were performed on the overall dataset and within race-specific datasets (Caucasian ancestry and African ancestry). Ordered subset analysis was used to stratify the data on the basis of age of glaucoma diagnosis. Novel linkage regions were identified on chromosomes 1 and 20, and two previously described loci—GLC1D on chromosome 8 and GLC1I on chromosome 15—were replicated. These data will prove valuable in the context of interpreting results from genome-wide association studies for POAG.
Highlights
Glaucoma comprises a group of disorders that are characterized by retinal ganglion cell death and a characteristic pattern of progressive vision loss
Primary open-angle glaucoma (POAG) is the most common type of glaucoma globally [1], and it is estimated that by 2020 the number of people diagnosed with POAG in the United States alone will total more than 3 million [2]
Causative mutations have been identified in genes within three of these loci: Myocilin (MYOC) on 1q24.3 (GLC1A) [12], optineurin (OPTN) on 10p15-14 (GLC1E) [8], and WD40repeat 36 on 5q22.1 (GLC1G) [6]
Summary
Glaucoma comprises a group of disorders that are characterized by retinal ganglion cell death and a characteristic pattern of progressive vision loss. Causative mutations have been identified in genes within three of these loci: Myocilin (MYOC) on 1q24.3 (GLC1A) [12], optineurin (OPTN) on 10p15-14 (GLC1E) [8], and WD40repeat 36 on 5q22.1 (GLC1G) [6]. Together, mutations in these three genes account for less than 10% of POAG cases [19]. The majority of the genetic etiology of POAG remains to be discovered
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