PURPOSE: Sequence variations in the @entity29714 ( @entity29714 ) gene account for approximately 2% to 4% of @entity726 cases. One particular @entity29714 mutation, @entity30607 (dbSNP accession number: @entity66928 ), is the most common genetic mutation causing @entity726 by @entity2790 (IOP). The objective of this study was to evaluate the effect of this @entity29714 mutation on IOP using data from large-scale European population panels (directly sequenced and imputation based). DESIGN: Cross-sectional, cohort study. @entity1 : For this study, the penetrance of the variant @entity66928 was estimated in 2 population-based cohorts, the TwinsUK (N = 6092) and the Rotterdam Study (RS) (N =11 189). METHODS: Carriers of the risk allele for @entity66928 were identified using whole-genome sequencing and imputation data (based on 1000 Genomes Project and Haplotype Reference Consortium panels). The penetrance of this variant was evaluated using IOP measurements and data on visual field testing/a diagnosis of @entity726 (if available). MAIN OUTCOME MEASURES: The penetrance of the variant @entity66928 was estimated from the percentage of the carriers of the risk allele of the variant who had high IOP ( @entity2790 ) or @entity726 . RESULTS: In our study, the observed penetrance of the variant @entity66928 in relation to increased IOP was 12.5% and 19.4% in the TwinsUK and the RS, respectively. Thus, our study suggests a much lower penetrance for @entity66928 for @entity2790 (and thus @entity726 ), in comparison with that reported previously. CONCLUSIONS: The significance of this finding is that higher numbers of healthy individuals in the population are expected to be carriers of this mutation, which in turn reduces the utility of identifying carriers of this mutation as a screening tool for @entity726 .

Evaluation of the @entity29714 Mutation Gln368Stop Demonstrates Reduced Penetrance for XXXX .

@entity1 :: ('9606', 'Species') :: ['PARTICIPANTS'] @entity30607 :: ('p|SUB|Q|368|X', 'ProteinMutation') :: ['Gln368Stop'] @entity726 :: ('MESH:D005901', 'Disease') :: ['glaucoma'] @entity2790 :: ('MESH:D009798', 'Disease') :: ['increasing intraocular pressure', 'ocular hypertension'] @entity29714 :: ('4653', 'Gene') :: ['MYOC', 'myocilin'] @entity66928 :: ('rs74315329', 'SNP') :: ['rs74315329']
@entity726 :: (MESH:D005901,Disease) :: ['Glaucoma in European Populations']
