rs10930115 - FIGN - PRPS1P1
Magnitude 2.2 · 3 studies on file
Reported associations
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Genome-wide analysis identifies novel susceptibility loci for myocardial infarction. - European heart journal (2021) · Hartiala JA, Han Y, Jia Q, Hilser JR, Huang P, Gukasyan J, Schwartzman WS, Cai Z, Biswas S, Trégouët DA, Smith NL, Seldin M, Pan C, Mehrabian M, Lusis AJ, Bazeley P, Sun YV, Liu C, Quyyumi AA, Scholz M, Thiery J, Delgado GE, Kleber ME, März W, Howe LJ, Asselbergs FW, van Vugt M, Vlachojannis GJ, Patel RS, Lyytikäinen LP, Kähönen M, Lehtimäki T, Nieminen TVM, Kuukasjärvi P, Laurikka JO, Chang X, Heng CK, Jiang R, Kraus WE, Hauser ER, Ferguson JF, Reilly MP, Ito K, Koyama S, Kamatani Y, Komuro I, Stolze LK, Romanoski CE, Khan MD, Turner AW, Miller CL, Aherrahrou R, Civelek M, Ma L, Björkegren JLM, Kumar SR, Tang WHW, Hazen SL, Allayee H · PubMed 33532862
While most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation. We carried out a genome-wide association study for MI in the UK Biobank (n∼472 000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167 000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were
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Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts - Unknown journal (n.d.) · Unknown authors · PubMed 38072966
ABSTRACT: Genome-wide association studies (GWAS) have yielded significant insights into the genetic architecture of myocardial infarction (MI), although studies in non-European populations are still lacking. Saudi Arabian cohorts offer an opportunity to discover novel genetic variants impacting disease risk due to a high rate of consanguinity. Genome-wide genotyping (GWG), imputation and GWAS followed by meta-analysis were performed based on two independent Saudi Arabian studies comprising 3950 MI patients and 2324 non-MI controls. Meta-analyses were then performed with these two Saudi MI studies and the CardioGRAMplusC4D and UK BioBank GWAS as controls. Meta-analyses of the two Saudi MI studies resulted in 17 SNPs with genome-wide significance. Meta-analyses of all 4 studies revealed 66 l
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants - Unknown journal (n.d.) · Unknown authors · PubMed 36474045
ABSTRACT: The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We priorit
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
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Fasting lipid panel Moderate
Lipid profile essential for CAD risk stratification in carriers of disease-associated variant
Baseline assessment, then every 1-2 years or per physician recommendation
Discuss with your doctor
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Preventive cardiology consultation Moderate
Genetic risk for CAD and MI warrants specialist assessment for personalized prevention
Schedule evaluation especially if family history present or additional risk factors
Exercise
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Regular aerobic cardiovascular exercise Moderate
Exercise reduces CAD and MI risk through multiple cardioprotective mechanisms
Target 150 minutes moderate intensity per week
Lifestyle
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Mediterranean or DASH diet pattern Moderate
Established dietary patterns reduce CAD and MI risk
Emphasize whole grains, fish, olive oil, vegetables, legumes, nuts
Screening
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Cardiovascular risk assessment High
Variant A allele associated with increased CAD (OR=1.041, p=5e-11) and MI risk (OR=1.050, p=6e-8)
Discuss with physician; consider ECG and risk scoring starting in 30s
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Blood pressure monitoring Moderate
Hypertension is major CAD and MI risk factor; baseline and periodic assessment needed
Annual monitoring minimum; more frequently if elevated (target <130/80)