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Alfred Pozarickij
Cardiff University
GeneGenome-wide association studyGenetic associationRefractive errorQuantile regression
5Publications
1H-index
6Citations
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Publications 5
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#1Alfred Pozarickij (Cardiff University)H-Index: 1
#4Cathy Williams (UoB: University of Bristol)H-Index: 26
Last. Jeremy A. Guggenheim (Cardiff University)H-Index: 28
view all 3 authors...
Genome-wide association studies (GWAS) have revealed that the genetic contribution to certain complex diseases is well-described by Fisher's infinitesimal model in which a vast number of polymorphisms each confer a small effect. Under Fisher's model, variants have additive effects both across loci and within loci. However, the latter assumption is at odds with the common observation of dominant or recessive rare alleles responsible for monogenic disorders. Here, we searched for evidence of non-a...
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#1Qiao Fan (NUS: National University of Singapore)H-Index: 24
#2Alfred Pozarickij (Cardiff University)H-Index: 1
Last. Anthony P. Khawaja (University of Cambridge)H-Index: 18
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Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal cu...
1 CitationsSource
#1Alfred Pozarickij (Cardiff University)H-Index: 1
#2Clair A. Enthoven (Erasmus University Medical Center)
Last. Cathy Williams (UoB: University of Bristol)H-Index: 26
view all 12 authors...
Purpose: To test the hypothesis that emmetropization buffers against genetic and environmental risk factors for myopia by investigating whether risk factor effect sizes vary depending on children's position in the refractive error distribution. Methods: Refractive error was assessed in participants from two birth cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC) (noncycloplegic autorefraction) and Generation R (cycloplegic autorefraction). A genetic risk score for myopia was calc...
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#1Alfred Pozarickij (Cardiff University)H-Index: 1
#2Cathy Williams (UoB: University of Bristol)H-Index: 26
Last. Jeremy A. Guggenheim (Cardiff University)H-Index: 28
view all 4 authors...
A genetic contribution to refractive error has been confirmed by the discovery of more than 150 associated variants in genome-wide association studies (GWAS). Environmental factors such as education and time outdoors also demonstrate strong associations. Currently however, the extent of gene-environment or gene-gene interactions in myopia is unknown. We tested the hypothesis that refractive error-associated variants exhibit effect size heterogeneity, a hallmark feature of genetic interactions. O...
1 CitationsSource
#1Alfred Pozarickij (Cardiff University)H-Index: 1
#2Cathy Williams (UoB: University of Bristol)H-Index: 26
Last. Jeremy A. Guggenheim (Cardiff University)H-Index: 28
view all 4 authors...
Refractive error is a complex ocular trait controlled by genetic and environmental factors. Genome-wide association studies (GWAS) have identified approximately 150 genetic variants associated with refractive error. Among the known environmental factors, education, near-work and time spent outdoors have been demonstrated to have the strongest associations. Currently, the extent of gene-environment or gene-gene interactions in myopia is unknown. Here we show that the majority of genetic variants ...
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