Expressive

rs10894818 - B3GAT1-DT

Magnitude 2.2 · 2 studies on file

Reported associations

  • A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors - Unknown journal (n.d.) · Unknown authors · PubMed 35224516

    ABSTRACT: Host genetic variants influence the susceptibility and severity of several infectious diseases, and the discovery of genetic associations with coronavirus disease 2019 (COVID-19) phenotypes could help to develop new therapeutic strategies to decrease its burden. Between May 2020 and June 2021, we used COVID-19 data released periodically by UK Biobank and performed 65 genome-wide association studies in up to 18 releases of COVID-19 susceptibility (n = 18,481 cases in June 2021), hospitalization (n = 3,260), severe outcomes (n = 1,244), and deaths (n = 1,104), stratified by sex and ancestry. In coherence with previous studies, we observed two independent signals at the chr3p21.31 locus (rs73062389-A, odds ratio [OR], 1.21 (P = 4.26 × 10−15) and rs71325088-C, OR, 1.62 [P = 2.25

  • A Genome-Wide Association Study Identifies Two Sex-specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites - Unknown journal (n.d.) · Unknown authors · PubMed 28181694

    ABSTRACT: Failure to achieve optimal bone mineral accretion during childhood and adolescence results in subsequent suboptimal peak bone mass, contributing to osteoporosis risk later in life. To identify novel genetic factors that influence pediatric bone mass at discrete skeletal sites, we performed a sex-stratified genome-wide association study of areal bone mineral density (BMD) measured by dual energy X-ray absorptiometry at the 1/3 distal radius, spine, total hip and femoral neck in a cohort of 933 healthy European American children. We took forward signals with P<5x10−5 and minor allele frequency (MAF) >5% into an independent cohort of 486 European American children in search of replication. In doing so, we identified five loci that achieved genome wide significance in the combined

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