Expressive

rs1231208 - SMG6

Magnitude 2.2 · 2 studies on file

Reported associations

  • GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Unknown journal (n.d.) · Unknown authors · PubMed 34021172

    ABSTRACT: Genetic studies have examined body-shape measures adjusted for body mass index (BMI), while allometric indices are additionally adjusted for height. We performed the first genome-wide association study of A Body Shape Index (ABSI), Hip Index (HI) and the new Waist-to-Hip Index and compared these with traditional indices, using data from the UK Biobank Resource for 219,872 women and 186,825 men with white British ancestry and Bayesian linear mixed-models (BOLT-LMM). One to two thirds of the loci identified for allometric body-shape indices were novel. Most prominent was rs72959041 variant in RSPO3 gene, expressed in visceral adipose tissue and regulating adrenal cell renewal. Highly ranked were genes related to morphogenesis and organogenesis, previously additionally linked to can

  • Genetic Insights into Head-to-Body Ratios Via Deep Learning-Based Image Segmentation and Implications for Common Diseases - Unknown journal (n.d.) · Unknown authors · PubMed 41444482

    ABSTRACT: Head-to-body ratios (HBRs) are important anthropometric traits with direct relevance to human growth, development, and disease risk. However, the role of the proportions between head and body remains understudied, with the genetic basis of HBRs remaining largely unexplored. By applying deep learning models to 38,202 whole-body dual-energy X-ray absorptiometry images from the UK Biobank, we generated 10 distinct HBR phenotypes based on head (length/width) and various body dimensions. Our genome-wide association analyses identify 245 significant loci, with SNP-based heritability estimates ranging from 25% to 43%. Functional annotations show that genes prioritized for HBRs are enriched in chondrocytes in skeletal tissues and oligodendrocytes across multiple brain regions. Polygenic

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