https://www.technologyreview.com/s/601495/amgen-finds-anti-heart-attack-gene/ http://www.nejm.org/doi/full/10.1056/NEJMoa1508419 Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
In ~50,000 patients studied, two insertion/deletion variants were found in the paper cited above, amidst a region of seven linked SNPs. Each of these variants reduces risk for myocardial infarction by about a third (hazard ratio, 0.64, CI: 0.64 - 0.80, p=8.5×10e−5) and led to a life span that was on average 1.5 years longer than that for noncarriers (CI:, 0.2 to 2.8, p=0.02). The two variants are:
- a del12 variant within ASGR1 intron 4 (NM_001671.4; c.284-36_283+33delCTGGGGCTGGGG)
- a 4-bp insertion (minor allele frequency, 0.027%; NM_001671.4; c.469_472dupAACT) that introduces a stop codon at position 158 (NP_001662.1; p.W158X) in the ASGR1 protein
The strongest proxy SNP for these in/del variants was reported to be rs186021206, with r2=0.86.