title: Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis.
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.
authors.affiliation: Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States of America.
authors.forename: Kristy R
authors.initials: KR
authors.lastname: Crooks
authors.forename: R Rand
authors.initials: RR
authors.lastname: Allingham
authors.forename: Xuejun
authors.initials: X
authors.lastname: Qin
authors.forename: Yutao
authors.initials: Y
authors.lastname: Liu
authors.forename: Jason R
authors.initials: JR
authors.lastname: Gibson
authors.forename: Cecilia
authors.initials: C
authors.lastname: Santiago-Turla
authors.forename: Karen R
authors.initials: KR
authors.lastname: Larocque-Abramson
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Del Bono
authors.forename: Pratap
authors.initials: P
authors.lastname: Challa
authors.forename: Leon W
authors.initials: LW
authors.lastname: Herndon
authors.forename: Stephen
authors.initials: S
authors.lastname: Akafo
authors.forename: Janey L
authors.initials: JL
authors.lastname: Wiggs
authors.forename: Silke
authors.initials: S
authors.lastname: Schmidt
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D044383:Black People / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D005789:Genealogy and Heraldry; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D005902:Glaucoma, Open-Angle / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D044465:White People / Q000235:genetics