Expressive

rs11874249 - CCBE1

Magnitude 2.2 · 3 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

  • Uncovering the shared genetic components of thyroid disorders and reproductive health. - European journal of endocrinology (2024) · Figuerêdo J, Krebs K, Pujol-Gualdo N, Haller T, Võsa U, Volke V, Laisk T, Mägi R · PubMed 39067062

    The aim of the study is to map the shared genetic component and relationships between thyroid and reproductive health traits to improve the understanding of the interplay between those domains. A large-scale genetic analysis of thyroid traits (hyper- and hypothyroidism, and thyroid-stimulating hormone levels) was conducted in up to 743 088 individuals of European ancestry from various cohorts. We evaluated genetic associations using genome-wide association study (GWAS) meta-analysis, GWAS Catalog lookup, gene prioritization, mouse phenotype lookup, and genetic correlation analysis. GWAS meta-analysis results for thyroid phenotypes showed that 50 lead variants out of 253 (including 5/52 of the novel hits) were linked to reproductive health in previous literature. Genetic correlation analyse

  • Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases - Unknown journal (n.d.) · Unknown authors · PubMed 41644669

    ABSTRACT: Thyroid diseases are common and highly heritable. We performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: thyroid cancer (ThC), benign nodular goiter, Graves' disease, lymphocytic thyroiditis and primary hypothyroidism. We analyzed genetic association data from ~2.9 million genomes and identified 313 known and 570 new independent loci linked to thyroid diseases. We discovered genetic correlations between ThC, benign nodular goiter and autoimmune thyroid diseases (rg = 0.16-0.97). Telomere maintenance genes contributed to benign and malignant thyroid nodular disease risk, whereas cell cycle, DNA repair and damage response genes were associated with ThC. We propose a paradigm that explains genetic predisposition to benign

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