Expressive

rs10748839 - NT5C2

Magnitude 2.0 · 2 studies on file

Reported associations

  • Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits - Cell genomics (2025) · Zhou F, Astle WJ, Butterworth AS, Asimit JL · PubMed 40220762

    ABSTRACT: Summary Genome-wide association studies (GWASs) of high-dimensional traits, such as blood cell or metabolic traits, often use univariate approaches, ignoring trait relationships. Biological mechanisms generating variation in high-dimensional traits can be captured parsimoniously through a GWAS of latent factors. Here, we introduce flashfmZero, a zero-correlation latent-factor-based multi-trait fine-mapping approach. In an application to 25 latent factors derived from 99 blood cell traits in the INTERVAL cohort, we show that latent factor GWASs enable the detection of signals generating sub-threshold associations with several blood cell traits. The 99% credible sets (CS99) from flashfmZero were equal to or smaller in size than those from univariate fine-mapping of blood cell trait

  • Chromosome 10q24.32 Variants Associate With Brain Arterial Diameters in Diverse Populations: A Genome‐Wide Association Study - Journal of the American Heart Association (2023) · Liu M, Khasiyev F, Sariya S, Spagnolo-Allende A, Sanchez DL, Andrews H, Yang Q, Beiser A, Qiao Y, Thomas EA, Romero JR, Rundek T, Brickman AM, Manly JJ, Elkind MS, Seshadri S, Chen C, Hilal S, Wasserman BA, Tosto G, Fornage M, Gutierrez J · PubMed 38038215

    ABSTRACT: Background Brain arterial diameters (BADs) are novel imaging biomarkers of cerebrovascular disease, cognitive decline, and dementia. Traditional vascular risk factors have been associated with BADs, but whether there may be genetic determinants of BADs is unknown. Methods and Results The authors studied 4150 participants from 6 geographically diverse population‐based cohorts (40% European, 14% African, 22% Hispanic, 24% Asian ancestries). Brain arterial diameters for 13 segments were measured and averaged to obtain a global measure of BADs as well as the posterior and anterior circulations. A genome‐wide association study revealed 14 variants at one locus associated with global BAD at genome‐wide significance (P<5×10−8) (top single‐nucleotide polymorphism, rs7921574;

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.