rs112912733 - GEMIN2P2 - TRAK1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Trans-ethnic association study of blood pressure determinants in over 750,000 individuals - Unknown journal (n.d.) · Unknown authors · PubMed 30578418

    ABSTRACT: In this trans-ethnic multi-omic study we reinterpret the genetic architecture of blood pressure to identify genes, tissues, phenome, and medication contexts of blood pressure homeostasis. We discovered 208 novel common blood pressure SNPs and 53 rare variants in GWASs of systolic, diastolic and pulse pressure in up to 776,078 participants from the Million Veteran Program (MVP) and collaborating studies, with analysis of the blood pressure clinical phenome in MVP. Our transcriptome-wide association study detected 4,043 blood pressure associations with genetically-predicted gene expression of 840 genes in 45 tissues, and murine renal single-cell RNA sequencing identified upregulated blood pressure genes in kidney tubule cells. Editorial summary: Analysis of blood pressure data from

  • Genetic diversity fuels gene discovery for tobacco and alcohol use - Unknown journal (n.d.) · Unknown authors · PubMed 36477530

    ABSTRACT: Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in s


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • genetic predisposition to smoking initiation High

    rs112912733 A allele increases smoking initiation risk (GWAS p=9e-10, n=2.67M); genetic risk awareness informs prevention and cessation strategies

    if smoker, discuss cessation pharmacotherapy options; if non-smoker, remain aware of genetic risk factors

Lifestyle

  • regular aerobic exercise and dietary sodium reduction High

    GWAS-implicated BP-raising variant; aerobic exercise and low sodium diet are evidence-based interventions to lower BP and reduce hypertension complications

    150 minutes moderate-intensity aerobic exercise per week; maintain dietary sodium below 2300 mg daily

Screening

  • periodic blood pressure assessment High

    rs112912733 A allele associated with 0.421 mmHg higher systolic BP per allele (GWAS p=1e-12, n=459,777); regular monitoring detects and helps manage elevated BP

    annual or biennial blood pressure screening; more frequent if already elevated