Abstract
Primary open-angle glaucoma (POAG) is one of the leading causes of
blindness in the world. It is a clinically variable group of
diseases with the majority of cases presenting as the late onset
adult type. Several chromosomal loci have been implicated in
disease aetiology, but causal mutations have only been identified
in a small proportion of glaucoma. We have previously described a
large six-generation Tasmanian family with POAG exhibiting genetic
heterogeneity. In this family, approximately one third of affected
individuals presented with a glutamine-368-STOP (Q368STOP) mutation
in the myocilin gene. We now use a Markov Chain Monte Carlo (MCMC)
method to identify a second disease region in this family on the
short arm of chromosome 3. This disease locus was initially mapped
to the marker D3S1298 and a subsequent minimum disease region of 9
cM between markers D3S1298 and D3S1289 was identified through
additional mapping. The region did not overlap with any previously
described locus for POAG. Using a multiplicative relative risk
model, we identified a positive association between this region and
the Q368STOP mutation of myocilin on chromosome 1 in affected
individuals. These findings provide evidence of a new autosomal
dominant glaucoma locus on the short arm of chromosome 3.
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