Last week we co-authored two papers published in Circulation about better understanding genetic association signals.
The first paper, under the lead of Danesh Saleheen and Muredach Reilly, describes that the protective effect of rs7178051 at ADAMTS7 locus gets lost in smokers.
The second paper, under the lead of Thorsten Kessler, Frank Kaiser and Heri Schunkert, studied rs7692387, an intronic SNP that alters promoter activity of GUCY1A3. ZEB1, a transcription factor, binds preferentially to the non-risk allele leading to an increase in GUCY1A3 expression, higher sGC levels, and higher sGC activity after stimulation. Finally, human and mouse data link augmented sGC expression to lower risk of atherosclerosis.