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GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans

Overview of attention for article published in BMC Genomics, April 2016
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  • Good Attention Score compared to outputs of the same age (67th percentile)
  • Good Attention Score compared to outputs of the same age and source (72nd percentile)

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Title
GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans
Published in
BMC Genomics, April 2016
DOI 10.1186/s12864-016-2594-5
Pubmed ID
Authors

Geetha Chittoor, Jack W. Kent, Marcio Almeida, Sobha Puppala, Vidya S. Farook, Shelley A. Cole, Karin Haack, Harald H. H. Göring, Jean W. MacCluer, Joanne E. Curran, Melanie A. Carless, Matthew P. Johnson, Eric K. Moses, Laura Almasy, Michael C. Mahaney, Donna M. Lehman, Ravindranath Duggirala, Anthony G. Comuzzie, John Blangero, Venkata Saroja Voruganti

Abstract

The variation in serum uric acid concentrations is under significant genetic influence. Elevated SUA concentrations have been linked to increased risk for gout, kidney stones, chronic kidney disease, and cardiovascular disease whereas reduced serum uric acid concentrations have been linked to multiple sclerosis, Parkinson's disease and Alzheimer's disease. Previously, we identified a novel locus on chromosome 3p26 affecting serum uric acid concentrations in Mexican Americans from San Antonio Family Heart Study. As a follow up, we examined genome-wide single nucleotide polymorphism data in an extended cohort of 1281 Mexican Americans from multigenerational families of the San Antonio Family Heart Study and the San Antonio Family Diabetes/Gallbladder Study. We used a linear regression-based joint linkage/association test under an additive model of allelic effect, while accounting for non-independence among family members via a kinship variance component. Univariate genetic analysis indicated serum uric acid concentrations to be significant heritable (h (2) = 0.50 ± 0.05, p < 4 × 10(-35)), and linkage analysis of serum uric acid concentrations confirmed our previous finding of a novel locus on 3p26 (LOD = 4.9, p < 1 × 10(-5)) in the extended sample. Additionally, we observed strong association of serum uric acid concentrations with variants in following candidate genes in the 3p26 region; inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), contactin 4 (CNTN4), decapping mRNA 1A (DCP1A); transglutaminase 4 (TGM4) and rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26) [p < 3 × 10(-7); minor allele frequencies ranged between 0.003 and 0.42] and evidence of cis-regulation for ITPR1 transcripts. Our results confirm the importance of the chromosome 3p26 locus and genetic variants in this region in the regulation of serum uric acid concentrations.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 64 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
Korea, Republic of 1 2%
Qatar 1 2%
Unknown 61 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 17%
Student > Master 9 14%
Student > Bachelor 7 11%
Student > Ph. D. Student 5 8%
Professor 4 6%
Other 10 16%
Unknown 18 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 23%
Medicine and Dentistry 9 14%
Agricultural and Biological Sciences 7 11%
Pharmacology, Toxicology and Pharmaceutical Science 3 5%
Neuroscience 3 5%
Other 5 8%
Unknown 22 34%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 05 April 2016.
All research outputs
#7,073,393
of 24,598,501 outputs
Outputs from BMC Genomics
#3,034
of 11,013 outputs
Outputs of similar age
#94,866
of 305,676 outputs
Outputs of similar age from BMC Genomics
#61
of 239 outputs
Altmetric has tracked 24,598,501 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 11,013 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 71% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 305,676 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 239 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.