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GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors

Overview of attention for article published in Human Molecular Genetics, August 2011
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Title
GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors
Published in
Human Molecular Genetics, August 2011
DOI 10.1093/hmg/ddr375
Pubmed ID
Authors

Beben Benyamin, Rita P. Middelberg, Penelope A. Lind, Anne M. Valle, Scott Gordon, Dale R. Nyholt, Sarah E. Medland, Anjali K. Henders, Andrew C. Heath, Pamela A.F. Madden, Peter M. Visscher, Daniel T. O'Connor, Grant W. Montgomery, Nicholas G. Martin, John B. Whitfield

Abstract

Serum butyrylcholinesterase (BCHE) activity is associated with obesity, blood pressure and biomarkers of cardiovascular and diabetes risk. We have conducted a genome-wide association scan to discover genetic variants affecting BCHE activity, and to clarify whether the associations between BCHE activity and cardiometabolic risk factors are caused by variation in BCHE or whether BCHE variation is secondary to the metabolic abnormalities. We measured serum BCHE in adolescents and adults from three cohorts of Australian twin and family studies. The genotypes from ∼2.4 million single-nucleotide polymorphisms (SNPs) were available in 8791 participants with BCHE measurements. We detected significant associations with BCHE activity at three independent groups of SNPs at the BCHE locus (P = 5.8 × 10(-262), 7.8 × 10(-47), 2.9 × 10(-12)) and at four other loci: RNPEP (P = 9.4 × 10(-16)), RAPH1-ABI2 (P = 4.1 × 10(-18)), UGT1A1 (P = 4.0 × 10(-8)) and an intergenic region on chromosome 8 (P = 1.4 × 10(-8)). These loci affecting BCHE activity were not associated with metabolic risk factors. On the other hand, SNPs in genes previously associated with metabolic risk had effects on BCHE activity more often than can be explained by chance. In particular, SNPs within FTO and GCKR were associated with BCHE activity, but their effects were partly mediated by body mass index and triglycerides, respectively. We conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 2 3%
France 1 2%
Unknown 58 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 12 20%
Researcher 9 15%
Student > Master 6 10%
Student > Bachelor 6 10%
Student > Doctoral Student 5 8%
Other 12 20%
Unknown 11 18%
Readers by discipline Count As %
Agricultural and Biological Sciences 15 25%
Biochemistry, Genetics and Molecular Biology 14 23%
Medicine and Dentistry 11 18%
Nursing and Health Professions 4 7%
Sports and Recreations 3 5%
Other 3 5%
Unknown 11 18%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 25 August 2011.
All research outputs
#20,657,128
of 25,374,917 outputs
Outputs from Human Molecular Genetics
#7,583
of 8,251 outputs
Outputs of similar age
#111,542
of 134,460 outputs
Outputs of similar age from Human Molecular Genetics
#70
of 92 outputs
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We're also able to compare this research output to 92 others from the same source and published within six weeks on either side of this one. This one is in the 8th percentile – i.e., 8% of its contemporaries scored the same or lower than it.