PubMed:16186355 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"16186355-2#261#266#geners74315329","span":{"begin":600,"end":605},"obj":"geners74315329"},{"id":"16186355-2#201#205#diseaseC0339573","span":{"begin":540,"end":544},"obj":"diseaseC0339573"},{"id":"16186355-4#26#31#geners74315329","span":{"begin":924,"end":929},"obj":"geners74315329"},{"id":"16186355-4#122#125#diseaseC0595921","span":{"begin":1020,"end":1023},"obj":"diseaseC0595921"}],"relations":[{"id":"261#266#geners74315329201#205#diseaseC0339573","pred":"associated_with","subj":"16186355-2#261#266#geners74315329","obj":"16186355-2#201#205#diseaseC0339573"},{"id":"26#31#geners74315329122#125#diseaseC0595921","pred":"associated_with","subj":"16186355-4#26#31#geners74315329","obj":"16186355-4#122#125#diseaseC0595921"}],"text":"Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree.\nPURPOSE: The purpose of this study was to identify genetic contributions to primary open-angle glaucoma (POAG) through investigations of two quantitative components of the POAG phenotype.\nMETHODS: Genome-wide multipoint variance-components linkage analyses of maximum recorded intraocular pressure (IOP) and maximum vertical cup-to-disc ratio were conducted on data from a single, large Australian POAG pedigree that has been found to segregate the myocilin Q368X mutation in some individuals.\nRESULTS: Multipoint linkage analysis of maximum recorded IOP produced a peak LOD score of 3.3 (P = 0.00015) near marker D10S537 on 10q22, whereas the maximum cup-to-disc ratio produced a peak LOD score of 2.3 (P = 0.00056) near markers D1S197 to D1S220 on 1p32. Inclusion of the myocilin Q368X mutation as a covariate provided evidence of an interaction between this mutation and the IOP and cup-to-disc ratio loci.\nCONCLUSIONS: Significant linkage has been identified for maximum IOP and suggestive linkage for vertical cup-to-disc ratio. Identification of genes contributing to the variance of these traits will enhance understanding of the pathophysiology of POAG as a whole."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16186355-2#252#260#gene4653","span":{"begin":591,"end":599},"obj":"gene4653"},{"id":"16186355-2#201#205#diseaseC0339573","span":{"begin":540,"end":544},"obj":"diseaseC0339573"},{"id":"16186355-4#17#25#gene4653","span":{"begin":915,"end":923},"obj":"gene4653"},{"id":"16186355-4#122#125#diseaseC0595921","span":{"begin":1020,"end":1023},"obj":"diseaseC0595921"}],"relations":[{"id":"252#260#gene4653201#205#diseaseC0339573","pred":"associated_with","subj":"16186355-2#252#260#gene4653","obj":"16186355-2#201#205#diseaseC0339573"},{"id":"17#25#gene4653122#125#diseaseC0595921","pred":"associated_with","subj":"16186355-4#17#25#gene4653","obj":"16186355-4#122#125#diseaseC0595921"}],"text":"Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree.\nPURPOSE: The purpose of this study was to identify genetic contributions to primary open-angle glaucoma (POAG) through investigations of two quantitative components of the POAG phenotype.\nMETHODS: Genome-wide multipoint variance-components linkage analyses of maximum recorded intraocular pressure (IOP) and maximum vertical cup-to-disc ratio were conducted on data from a single, large Australian POAG pedigree that has been found to segregate the myocilin Q368X mutation in some individuals.\nRESULTS: Multipoint linkage analysis of maximum recorded IOP produced a peak LOD score of 3.3 (P = 0.00015) near marker D10S537 on 10q22, whereas the maximum cup-to-disc ratio produced a peak LOD score of 2.3 (P = 0.00056) near markers D1S197 to D1S220 on 1p32. Inclusion of the myocilin Q368X mutation as a covariate provided evidence of an interaction between this mutation and the IOP and cup-to-disc ratio loci.\nCONCLUSIONS: Significant linkage has been identified for maximum IOP and suggestive linkage for vertical cup-to-disc ratio. Identification of genes contributing to the variance of these traits will enhance understanding of the pathophysiology of POAG as a whole."}