Expressive

rs10743612 - RN7SKP15 - PTHLH

Magnitude 2.2 · 4 studies on file

Reported associations

  • The genetic architecture and evolution of the human skeletal form. - Science (New York, N.Y.) (2023) · Kun E, Javan EM, Smith O, Gulamali F, de la Fuente J, Flynn BI, Vajrala K, Trutner Z, Jayakumar P, Tucker-Drob EM, Sohail M, Singh T, Narasimhan VM · PubMed 37471560

    The human skeletal form underlies bipedalism, but the genetic basis of skeletal proportions (SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the UK Biobank to extract a comprehensive set of SPs, which were associated with 145 independent loci genome-wide. Structural equation modeling suggested that limb proportions exhibited strong genetic sharing but were independent of width and torso proportions. Polygenic score analysis identified specific associations between osteoarthritis and hip and knee SPs. In contrast to other traits, SP loci were enriched in human accelerated regions and in regulatory elements of genes that are differentially expressed between humans and great apes. Combined, our work identifies specific genetic variants that affect the ske

  • Identification of Novel Loci Associated With Hip Shape: A Meta‐Analysis of Genomewide Association Studies - Unknown journal (n.d.) · Unknown authors · PubMed 30320955

    ABSTRACT: ABSTRACT We aimed to report the first genomewide association study (GWAS) meta‐analysis of dual‐energy X‐ray absorptiometry (DXA)‐derived hip shape, which is thought to be related to the risk of both hip osteoarthritis and hip fracture. Ten hip shape modes (HSMs) were derived by statistical shape modeling using SHAPE software, from hip DXA scans in the Avon Longitudinal Study of Parents and Children (ALSPAC; adult females), TwinsUK (mixed sex), Framingham Osteoporosis Study (FOS; mixed), Osteoporotic Fractures in Men study (MrOS), and Study of Osteoporotic Fractures (SOF; females) (total N = 15,934). Associations were adjusted for age, sex, and ancestry. Five genomewide significant (p < 5 × 10−9, adjusted for 10 independent outcomes) single‐nucleotide pol

  • The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture - Unknown journal (n.d.) · Unknown authors · PubMed 39574169

    ABSTRACT: Abstract Objectives Hip shape is thought to be an important causal risk factor for hip osteoarthritis and fracture. We aimed to identify genetic determinants of hip shape and use these to assess causal relationships with hip osteoarthritis. Methods Statistical hip shape modelling was used to derive 10 hip shape modes (HSMs) from DXA images in UK Biobank and Shanghai Changfeng cohorts (ntotal = 43 485). Genome-wide association study meta-analyses were conducted for each HSM. Two-sample Mendelian randomisation (MR) was used to estimate causal effects between HSM and hip osteoarthritis using hip fracture as a positive control. Results Analysis of the first 10 HSMs identified 203 independent association signals (P < 5 × 10−9). Hip shape SNPs were also associated (P <

  • 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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