rs1209731 - NME7
Magnitude 2.2 · 2 studies 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-
-
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449
ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp
Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Bloodwork
-
baseline coagulation profile testing Moderate
Variant is associated with abnormal coagulation profiles (p=9e-23); baseline testing establishes individual risk and guides clinical surveillance.
PT/INR, aPTT, fibrinogen, and D-dimer baseline; follow-up frequency determined by healthcare provider.
Lifestyle
-
prolonged immobilization during travel Moderate
Immobility increases venous stasis and thrombotic risk, particularly in carriers of genetic risk variants.
Move every 1-2 hours during travel; use compression stockings on flights over 4 hours if recommended.
-
regular moderate-intensity aerobic exercise Moderate
Physical activity maintains circulation and reduces venous stasis, mitigating thrombotic risk in genetically predisposed individuals.
150 minutes per week of moderate aerobic activity or equivalent.
Screening
-
genetic VTE risk with healthcare provider High
rs1209731 is strongly associated with increased venous thromboembolism risk (p=2e-164) and abnormal coagulation profiles, warranting clinical risk stratification.
Arrange consultation with primary care or hematology for baseline assessment.