rs11675251 - ABI2

Magnitude 2.2 · 1 study on file

Reported associations

• GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. - Human molecular genetics (2012) · Benyamin B, Middelberg RP, Lind PA, Valle AM, Gordon S, Nyholt DR, Medland SE, Henders AK, Heath AC, Madden PA, Visscher PM, O'Connor DT, Montgomery GW, Martin NG, Whitfield JB · PubMed 21862451

  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

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