rs1036477 - FBN1

Magnitude 2.2 · 7 studies on file

Reported associations

• The Genetic Determinants of Aortic Distention. - Journal of the American College of Cardiology (2023) · Pirruccello JP, Rämö JT, Choi SH, Chaffin MD, Kany S, Nekoui M, Chou EL, Jurgens SJ, Friedman SF, Juric D, Stone JR, Batra P, Ng K, Philippakis AA, Lindsay ME, Ellinor PT · PubMed 37019578

  As the largest conduit vessel, the aorta is responsible for the conversion of phasic systolic inflow from ventricular ejection into more continuous peripheral blood delivery. Systolic distention and diastolic recoil conserve energy and are enabled by the specialized composition of the aortic extracellular matrix. Aortic distensibility decreases with age and vascular disease. In this study, we sought to discover epidemiologic correlates and genetic determinants of aortic distensibility and strain. We trained a deep learning model to quantify thoracic aortic area throughout the cardiac cycle from cardiac magnetic resonance images and calculated aortic distensibility and strain in 42,342 UK Biobank participants. Descending aortic distensibility was inversely associated with future incidence o

• Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation - Unknown journal (n.d.) · Unknown authors · PubMed 27841878

  ABSTRACT: Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort individuals provided 1,342,814 systolic and diastolic blood pressure measurements for a genome-wide association study on long-term average systolic, diastolic, and pulse pressure. We identified 39 novel among 75 significant loci (P≤5×10−8), most replicating in the combined International Consortium for Blood Pressure (ICBP, n=69,396) and UK Biobank (UKB, n=152,081) studies. Combining GERA with ICBP yielded 36 additional novel loci, most replicating in UKB. Combining all three studies (n=321,262) yielded 241 additional genome-wide significant loci, although for these no replication sample was available. All associated loci explained 2.9%/2.5%/3.1% of systolic/

• Deep learning enables genetic analysis of the human thoracic aorta - Unknown journal (n.d.) · Unknown authors · PubMed 34837083

  ABSTRACT: Enlargement or aneurysm of the aorta predisposes to dissection, an important cause of sudden death. We trained a deep learning model to evaluate the dimensions of the ascending and descending thoracic aorta in 4.6 million cardiac magnetic resonance images from the UK Biobank. We then conducted genome-wide association studies in 39,688 individuals, identifying 82 loci associated with ascending and 47 with descending thoracic aortic diameter, of which 14 loci overlapped. Transcriptome-wide analyses, rare-variant burden tests, and human aortic single nucleus RNA sequencing prioritized genes including SVIL, which was strongly associated with descending aortic diameter. A polygenic score for ascending aortic diameter was associated with thoracic aortic aneurysm in 385,621 UK Biobank p

• Genetic Variants Associated With Systolic Blood Pressure in Children and Adolescents - Unknown journal (n.d.) · Unknown authors · PubMed 36718908

  ABSTRACT: Background Genetics, along with lifestyle and behavioral characteristics, play an important role in hypertension in adults. Our aim was to identify genetic variants associated with blood pressure in childhood and adolescence. Methods and Results We conducted a candidate single‐nucleotide polymorphism (SNP) analysis and genome‐wide association study among 9778 participants aged <18 years in BioVU, the Vanderbilt University Medical Center biobank. The outcome was childhood blood pressure percentile from age 0 to 18 years. For the candidate SNP analysis, a total of 457 previously identified SNPs were examined. Linear regression was used to test the association between genetic variants and median systolic blood pressure (SBP) percentile. Adjusted models included median age, s

• Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney - Unknown journal (n.d.) · Unknown authors · PubMed 28739976

  ABSTRACT: Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7, TNXB, LRP12, LOC283335, SEPT9, and AKT2, and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA. Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previousl

• Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities - Unknown journal (n.d.) · Unknown authors · PubMed 35922433

  ABSTRACT: Aortic dimensions and distensibility are key risk factors for aortic aneurysms and dissections, as well as for other cardiovascular and cerebrovascular diseases. We present genome-wide associations of ascending and descending aortic distensibility and area derived from cardiac magnetic resonance imaging (MRI) data of up to 32,590 Caucasian individuals in UK Biobank. We identify 102 loci (including 27 novel associations) tagging genes related to cardiovascular development, extracellular matrix production, smooth muscle cell contraction and heritable aortic diseases. Functional analyses highlight four signalling pathways associated with aortic distensibility (TGF-β, IGF, VEGF and PDGF). We identify distinct sex-specific associations with aortic traits. We develop co-expression net

• Participation bias in the UK Biobank distorts genetic associations and downstream analyses - Unknown journal (n.d.) · Unknown authors · PubMed 37106081

  ABSTRACT: While volunteer-based studies such as the UK Biobank have become the cornerstone of genetic epidemiology, the participating individuals are rarely representative of their target population. To evaluate the impact of selective participation, here we derived UK Biobank participation probabilities on the basis of 14 variables harmonized across the UK Biobank and a representative sample. We then conducted weighted genome-wide association analyses on 19 traits. Comparing the output from weighted genome-wide association analyses (neffective = 94,643 to 102,215) with that from standard genome-wide association analyses (n = 263,464 to 283,749), we found that increasing representativeness led to changes in SNP effect sizes and identified novel SNP associations for 12 traits. While

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