Expressive

rs10840366 - H19 - IGF2

Magnitude 2.0 · 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

  • A multiethnic whole genome sequencing study to identify novel loci for bone mineral density. - Human molecular genetics (2022) · Greenbaum J, Su KJ, Zhang X, Liu Y, Liu A, Zhao LJ, Luo Z, Tian Q, Shen H, Deng HW · PubMed 34673960

    At present, there have only been a few DNA sequencing-based studies to explore the genetic determinants of bone mineral density (BMD). We carried out the largest whole genome sequencing analysis to date for femoral neck and spine BMD (n = 4981), with one of the highest average sequencing depths implemented thus far at 22×, in a multiethnic sample (58% Caucasian and 42% African American) from the Louisiana Osteoporosis Study (LOS). The LOS samples were combined with summary statistics from the GEFOS consortium and several independent samples of various ethnicities to perform GWAS meta-analysis (n = 44 506). We identified 31 and 30 genomic risk loci for femoral neck and spine BMD, respectively. The findings substantiate many previously reported susceptibility loci (e.g. WNT16 and

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