Expressive

rs10888955 - LINC01755 - RPSAP20

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic screens of imaging-derived kidney volumes identify genes linked to kidney function. - Kidney international (2026) · Monteiro-Martins S, Li Y, Borisov O, Khan A, Reichardt W, Haug S, Kellner E, Buechert M, Ott E, Russe MF, Bamberg F, Kiryluk K, Sekula P, Reisert M, Köttgen A · PubMed 41077127

    Chronic kidney disease (CKD) is defined as sustained abnormalities in kidney function or structure. Genetic studies of CKD have largely focused on kidney function markers such as estimated glomerular filtration rate (eGFR). We hypothesized that genome-wide association studies (GWAS) of magnetic resonance imaging (MRI)-based kidney sub-volumes could provide insights into CKD risk genes complementary to the study of eGFR. Total kidney volume (TKV) and sub-volumes for cortex, medulla, and sinus were derived from abdominal MRIs of 38,816 United Kingdom Biobank participants of European ancestry using a trained convolutional neural network. GWAS was performed for body surface area-normalized kidney volumes and eGFR for comparison. Potentially causal genes at each locus were prioritized using a d

  • Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population - Unknown journal (n.d.) · Unknown authors · PubMed 41184235

    ABSTRACT: To understand the genetic basis of heart failure (HF) in the Japanese population, we performed genome-wide association studies (GWASs) comprising 16,251 all-cause HF cases, 4254 HF with reduced ejection fraction (HFrEF) cases, 7154 HF with preserved ejection fraction cases, and 11,122 non-ischemic HF cases among 213,828 individuals and identified five novel loci. A subsequent cross-ancestry meta-analysis and multi-trait analysis of the GWAS data identified 19 novel loci in total, with 31 out of the 76 genome-wide significant loci associated with HFrEF despite its smaller sample size. Among these susceptibility loci, a common non-coding variant in TTN (rs1484116) was associated with reduced cardiac function and worse long-term mortality. We leveraged the HF meta-GWASs along with c

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