Expressive

rs12442212 - NPM1P47 - C2CD4B

Magnitude 2.0 · 2 studies on file

Reported associations

  • Unraveling the genetic links between stature and disease in East Asians: A multi-biobank genetic correlation and risk prediction study - PLoS genetics (2026) · Lin YJ, Liu TY, Yang JS, Li JP, Chiou JS, Lu HF, Ariyoshi K, Hikino K, Terao C, Chou CH, Liang WM, Chou IC, Lin TH, Liao CC, Huang SM, Tsai FJ · PubMed 41824406

    ABSTRACT: Both genetic and environmental factors affect human stature, including overall height and familial short stature (FSS), and it is associated with various health outcomes. However, the study of genetic connections between stature and health conditions remains lacking in East Asian populations. Hence, we conducted parallel genome-wide association studies (GWAS) of body height and FSS in the Han Taiwanese population, aiming to elucidate the genetic influences of stature on health and facilitate the formulation of precision-health strategies. We analyzed large-scale GWAS data on adult height (120,301 Han Taiwanese) and FSS (FSS; 2,050 cases, 27,966 controls) to examine cross-trait genetic correlations across five East Asian biobanks, and applied phenome-wide association studies (PheW

  • Modeling the genomic architecture of adiposity and anthropometrics across the lifespan - Nature communications (2025) · Arehart CH, Lin M, Gibson RA, Raghavan S, Gignoux CR, Stanislawski MA, Grotzinger AD, Evans LM · PubMed 40796553

    ABSTRACT: Obesity-related conditions are among the leading causes of preventable death and are increasing in prevalence worldwide. Body size and composition are complex traits that are challenging to characterize due to environmental and genetic influences, longitudinal variation, heterogeneity between sexes, and differing health risks based on adipose distribution. Here, we construct a 4-factor genomic structural equation model using 18 measures, unveiling shared and distinct genetic architectures underlying birth size, abdominal size, adipose distribution, and adiposity. Multivariate genome-wide associations reveal the adiposity factor is enriched specifically in neural tissues and pathways, while adipose distribution is enriched more broadly across physiological systems. In addition, po

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