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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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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

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10 tweeters

Citations

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5 Dimensions

Readers on

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29 Mendeley
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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.

Twitter Demographics

The data shown below were collected from the profiles of 10 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Korea, Republic of 1 3%
Qatar 1 3%
Unknown 26 90%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 28%
Student > Master 6 21%
Professor 4 14%
Student > Ph. D. Student 3 10%
Other 2 7%
Other 4 14%
Unknown 2 7%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 34%
Medicine and Dentistry 5 17%
Agricultural and Biological Sciences 4 14%
Nursing and Health Professions 2 7%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 3 10%
Unknown 4 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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
#1,240,074
of 7,499,955 outputs
Outputs from BMC Genomics
#889
of 5,482 outputs
Outputs of similar age
#63,489
of 272,914 outputs
Outputs of similar age from BMC Genomics
#47
of 246 outputs
Altmetric has tracked 7,499,955 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,482 research outputs from this source. They receive a mean Attention Score of 4.1. This one has done well, scoring higher than 83% 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 272,914 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 246 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.