Expressive

rs1078514 - IRS2 - RN7SKP10

Magnitude 2.0 · 4 studies on file

Reported associations

  • Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations - Unknown journal (n.d.) · Unknown authors · PubMed 32888493

    ABSTRACT: SUMMARY Most loci identified by GWAS have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at P<5×10−9, including 71 novel loci not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional, and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value

  • Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis - Unknown journal (n.d.) · Unknown authors · PubMed 28869591

    ABSTRACT: Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study in 142,487 individuals from the UK Biobank to identify loci associated with BMD estimated by quantitative ultrasound of the heel ("eBMD"). We identified 307 conditionally independent SNPs attaining genome-wide significance at 203 loci, explaining approximately 12% of the phenotypic variance. These included 153 novel loci, and several rare variants with large effect sizes. To investigate underlying mechanisms we undertook: 1) bioinformatic, functional genomic annotation and human osteoblast expression studies; 2) gene function prediction; 3) skeletal phenotyping of 120 knockout mice with deletions of genes adjacent to lead independent

  • Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture - Unknown journal (n.d.) · Unknown authors · PubMed 30048462

    ABSTRACT: Low bone mineral density (BMD) leads to osteoporosis, and is a risk factor for bone fractures, including stress fractures. Using data from UK Biobank, a genome-wide association study identified 1,362 independent SNPs that clustered into 899 loci of which 613 are new. These data were used to train a genetic algorithm using 22,886 SNPs as predictors and showing a correlation with heel bone mineral density of 0.415. Combining this genetic algorithm with height, weight, age and sex resulted in a correlation with heel bone mineral density of 0.496. Individuals with low scores (2.2% of total) showed a change in BMD of -1.16 T-score units, an increase in risk for osteoporosis of 17.4 fold and an increase in risk for fracture of 1.87 fold. Genetic predictors could assist in the identific

  • Multi-ancestry genome-wide association meta-analysis of Parkinson's disease - Unknown journal (n.d.) · Unknown authors · PubMed 38155330

    ABSTRACT: Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson's disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in th

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