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Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Overview of attention for article published in PLoS Genetics, May 2010
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Title
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness
Published in
PLoS Genetics, May 2010
DOI 10.1371/journal.pgen.1000947
Pubmed ID
Authors

Yi Lu, David P. Dimasi, Pirro G. Hysi, Alex W. Hewitt, Kathryn P. Burdon, Tze'Yo Toh, Jonathan B. Ruddle, Yi Ju Li, Paul Mitchell, Paul R. Healey, Grant W. Montgomery, Narelle Hansell, Timothy D. Spector, Nicholas G. Martin, Terri L. Young, Christopher J. Hammond, Stuart Macgregor, Jamie E. Craig, David A. Mackey

Abstract

Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058). Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1) had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10). The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11). The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS), a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 3%
Brazil 1 2%
Unknown 60 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 21%
Student > Ph. D. Student 10 16%
Student > Master 7 11%
Professor 6 10%
Professor > Associate Professor 5 8%
Other 19 30%
Unknown 3 5%
Readers by discipline Count As %
Medicine and Dentistry 23 37%
Agricultural and Biological Sciences 13 21%
Biochemistry, Genetics and Molecular Biology 6 10%
Environmental Science 3 5%
Psychology 2 3%
Other 10 16%
Unknown 6 10%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 July 2018.
All research outputs
#8,551,190
of 25,411,814 outputs
Outputs from PLoS Genetics
#5,431
of 8,964 outputs
Outputs of similar age
#38,058
of 103,800 outputs
Outputs of similar age from PLoS Genetics
#36
of 69 outputs
Altmetric has tracked 25,411,814 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 8,964 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one is in the 35th percentile – i.e., 35% of its peers scored the same or lower than it.
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We're also able to compare this research output to 69 others from the same source and published within six weeks on either side of this one. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.