Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Lifestyle Cardiovascular Risk Score, Genetic Risk Score, and Myocardial Infarction in Hispanic/Latino Adults Living in Costa Rica

“…The association for the GRS and higher odds of MI was consistent with previous literature analyzing SNPs in the chromosome 9p21 and higher risk of CHD and mortality 6, 10, 12. Moreover, we observed that participants with the highest genetic risk in combination with the highest lifestyle risk factors (both all‐together as well as individually) had higher odds of MI.…”

“…Although the genetic variants used in the GRS have been associated with increased risk of CHD in European populations,6, 10, 12 they account for a modest portion of the variability in MI, and other genetic variants (for example, in genes of the inflammation response) could have a stronger effect in this population. A more comprehensive evaluation of gene–environment interactions with genetic markers in additional loci warrants future investigation.…”

“…Genome‐wide association studies have identified chromosomal regions and genetic variants associated with CHD 6, 10, 12. One of the most robust genetic associations for CHD is the chromosome 9p21 region.…”

“…One of the most robust genetic associations for CHD is the chromosome 9p21 region. Several single nucleotide polymorphisms (SNPs) in this region have been associated with increased risk of CHD,6, 10, 12 such as a common sequence variant adjacent to genes CDKN2A and CDKN2B found to be associated with 1.64 times higher risk of MI 10. Recently, we showed that genetic markers in these loci were also associated with this outcome in the same MI case–control study of Costa Rican adults, when analyzed as part of a genetic risk score (GRS) 13.…”

The impact of genome‐wide association studies on the pathophysiology and therapy of cardiovascular disease

“…In the first years of GWAS discoveries, identification of further loci came from individual genome‐wide association studies (Erdmann et al , 2009; Myocardial Infarction Genetics Consortium et al , 2009; Tregouet et al , 2009; IBC 50K CAD Consortium, 2011; Wang et al , 2011), whereas more recently the formation of large, international consortia has accumulated a sufficient statistical power for new discoveries. The joint forces of the CARDIoGRAM (Schunkert et al , 2011), C4D (Coronary Artery Disease C4D Genetics Consortium, 2011) and finally the CARDIoGRAMplusC4D (CARDIoGRAMplusC4D Consortium et al , 2013; Nikpay et al , 2015) consortium allowed the analysis of up to 180,000 individuals, about half of which had CAD.…”