rs12122803 - FIRRM

Magnitude 2.2 · 1 study on file

Reported associations

  • Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. - Blood (2020) · Lindström S, Wang L, Smith EN, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody JA, Pattee JW, Haessler J, Brumpton BM, Chasman DI, Suchon P, Chen MH, Turman C, Germain M, Wiggins KL, MacDonald J, Braekkan SK, Armasu SM, Pankratz N, Jackson RD, Nielsen JB, Giulianini F, Puurunen MK, Ibrahim M, Heckbert SR, Damrauer SM, Natarajan P, Klarin D, de Vries PS, Sabater-Lleal M, Huffman JE, Bammler TK, Frazer KA, McCauley BM, Taylor K, Pankow JS, Reiner AP, Gabrielsen ME, Deleuze JF, O'Donnell CJ, Kim J, McKnight B, Kraft P, Hansen JB, Rosendaal FR, Heit JA, Psaty BM, Tang W, Kooperberg C, Hveem K, Ridker PM, Morange PE, Johnson AD, Kabrhel C, Trégouët DA, Smith NL · PubMed 31420334

    Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality. To advance our understanding of the biology contributing to VTE, we conducted a genome-wide association study (GWAS) of VTE and a transcriptome-wide association study (TWAS) based on imputed gene expression from whole blood and liver. We meta-analyzed GWAS data from 18 studies for 30 234 VTE cases and 172 122 controls and assessed the association between 12 923 718 genetic variants and VTE. We generated variant prediction scores of gene expression from whole blood and liver tissue and assessed them for association with VTE. Mendelian randomization analyses were conducted for traits genetically associated with novel VTE loci. We identified 34 independent genetic signals for VTE risk from GWAS meta-


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Lifestyle context

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

Discuss with your doctor

  • VTE risk status and thrombosis prevention options Moderate

    rs12122803 carriers have 34.5 percent increased odds of VTE; targeted prevention may be indicated

Exercise

  • regular aerobic exercise and movement Moderate

    Aerobic activity improves venous return and circulation, reducing thrombotic risk

    Aim for 150 minutes moderate-intensity aerobic activity per week in bouts of 30+ minutes

Lifestyle

  • prolonged immobility and long flights without movement Moderate

    Immobility increases venous stasis and thrombosis risk in genetically predisposed individuals

    Move for 1-2 minutes every 1-2 hours during long travel; consider compression stockings

Screening

  • venous thromboembolism risk and signs Moderate

    rs12122803 associates with elevated venous thromboembolism risk (p=7e-20) through reduced METTL18 expression

    Discuss VTE screening with provider; monitor for leg swelling, pain, warmth