Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families

R. R. Allingham, J. L. Wiggs, K. F. Damji, L. Herndon, J. Youn, D. A. Tallett, K. H. Jones, E. A. Del Bono, M. Reardon, J. L. Haines, M. A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Glaucoma is one of the leading causes of irreversible blindness in the world and is characterized by elevated intraocular pressure, optic nerve atrophy, and progressive visual field loss. Primary open angle glaucoma (POAG) is the most common subtype of glaucoma in the United States. Recently, Stoilova and coworkers identified a locus for POAG on chromosome 2 (2cen-q13) in families primarily located in the United Kingdom. We examined families with POAG identified within the US for linkage to the 2cen-q13 locus. A total of 18 families with POAG were used in the analysis. Of 77 family members, 46 were classified as affected and 31 were either glaucoma suspects or considered normal. Eight highly polymorphic and informative markers flanking and distributed throughout the region were used. Parametric lod score analysis was performed using both a dominant and recessive low penetrance or 'affecteds-only' model. Multipoint affected sibpair exclusion mapping was also performed, Lod score (both models) and sibpair analysis excluded linkage of the POAG phenotype to the 2cen-q13 region in these families. These data suggest that the chromosome 2cen-q13 locus does not explain a substantial amount of genetic variation in familial POAG.

Original languageEnglish (US)
Pages (from-to)251-255
Number of pages5
JournalHuman Heredity
Volume48
Issue number5
DOIs
StatePublished - Sep 1998
Externally publishedYes

Keywords

  • Chromosome 2
  • Genetic linkage analysis
  • Primary open angle glaucoma

ASJC Scopus subject areas

  • Genetics(clinical)

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