Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31

Nat Genet. 1993 May;4(1):47-50. doi: 10.1038/ng0593-47.


Glaucoma is a significant cause of blindness world wide. There is evidence to suggest that at least a subset of the disease is determined genetically. We studied 37 members of a family affected with an autosomal dominant form of juvenile open angle glaucoma and 22 were found to be affected. Linkage analysis using short tandem repeat markers mapped the disease-causing gene to chromosome 1q21-q31. Eight markers were significantly linked (Zmax > 3.0) to the disease, with the highest lod score 6.5 (theta = 0), provided by D1S212. The atrial natriuretic peptide (ANP)/receptor system has been proposed to have a role in glaucoma and one of the ANP receptor genes maps to chromosome 1q.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Receptors, Atrial Natriuretic Factor / genetics
  • Repetitive Sequences, Nucleic Acid


  • Genetic Markers
  • Receptors, Atrial Natriuretic Factor