Expressive

rs1038196 - HMGA2

Magnitude 2.2 · 3 studies on file

Reported associations

  • Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium - Unknown journal (n.d.) · Unknown authors · PubMed 35399580

    ABSTRACT: Hispanic/Latinos have been underrepresented in genome-wide association studies (GWAS) for anthropometric traits despite their notable anthropometric variability, ancestry proportions, and high burden of growth stunting and overweight/obesity. To address this knowledge gap, we analyzed densely imputed genetic data in a sample of Hispanic/Latino adults to identify and fine-map genetic variants associated with body mass index (BMI), height, and BMI-adjusted waist-to-hip ratio (WHRadjBMI). We conducted a GWAS of 18 studies/consortia as part of the Hispanic/Latino Anthropometry (HISLA) Consortium (stage 1, n = 59,771) and generalized our findings in 9 additional studies (stage 2, n = 10,538). We conducted a trans-ancestral GWAS with summary statistics from HISLA stage 1 and existing

  • Deep learning of left atrial structure and function provides link to atrial fibrillation risk - Unknown journal (n.d.) · Unknown authors · PubMed 38773065

    ABSTRACT: Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunity to assess the genetic contributions to left atrial structure and function, and understand their relationship with risk for atrial fibrillation. Here, we use deep learning and surface reconstruction models to measure left atrial minimum volume, maximum volume, stroke volume, and emptying fraction in 40,558 UK Biobank participants. In a genome-wide association study of 35,049 participants without pre-existing cardiovascular disease, we identify 20 common genetic loci associated with left atrial structure and function. We find that polygenic co

  • A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects - Unknown journal (n.d.) · Unknown authors · PubMed 34127677

    ABSTRACT: Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common operations performed in the United States. As the genetic etiology of cataract formation remains unclear, we conducted a multiethnic genome-wide association meta-analysis, combining results from the GERA and UK Biobank cohorts, and tested for replication in the 23andMe research cohort. We report 54 genome-wide significant loci, 37 of which were novel. Sex-stratified analyses identified CASP7 as an additional novel locus specific to women. We show that genes within or near 80% of the cataract-associated loci are significantly expressed and/or enriched-expressed in the mouse lens across various spatiotemporal stages as per iSyTE analysis. Furthermore, iSyTE shows 32

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

  • blood pressure and fasting glucose Low

    HMGA2 variants show pleiotropic association with hypertension, diabetes, and metabolic syndrome

    baseline screening and periodic monitoring if risk factors present

Screening

  • baseline and periodic cardiac screening for atrial fibrillation Moderate

    HMGA2 rs1038196 G allele increases left atrial volume, associated with AF risk

    discuss timing of EKG and echocardiography with cardiologist

  • baseline and periodic vision screening for cataracts Moderate

    HMGA2 rs1038196 G allele increases cataract risk; C allele protective (OR 0.96, n=538,515)

    discuss timing and frequency of vision screening with ophthalmologist