rs12248718 - CDC123

Magnitude 2.2 · 3 studies on file

Reported associations

• A Genomics England haplotype reference panel and imputation of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 39134668

  ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10−4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10−11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants. A Genomics England haplotype reference panel constructed using sequence data from 78,195 individuals

• Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk - Unknown journal (n.d.) · Unknown authors · PubMed 28135244

  ABSTRACT: Elevated blood pressure is the leading heritable risk factor for cardiovascular disease worldwide. We report genetic association of blood pressure (systolic, diastolic, pulse pressure) among UK Biobank participants of European ancestry with independent replication in other cohorts, and robust validation of 107 independent loci. We also identify new independent variants at 11 previously reported blood pressure loci. Combined with results from a range of in silico functional analyses and wet bench experiments, our findings highlight new biological pathways for blood pressure regulation enriched for genes expressed in vascular tissues and identify potential therapeutic targets for hypertension. Results from genetic risk score models raise the possibility of a precision medicine appr

• Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation - Unknown journal (n.d.) · Unknown authors · PubMed 27841878

  ABSTRACT: Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort individuals provided 1,342,814 systolic and diastolic blood pressure measurements for a genome-wide association study on long-term average systolic, diastolic, and pulse pressure. We identified 39 novel among 75 significant loci (P≤5×10−8), most replicating in the combined International Consortium for Blood Pressure (ICBP, n=69,396) and UK Biobank (UKB, n=152,081) studies. Combining GERA with ICBP yielded 36 additional novel loci, most replicating in UKB. Combining all three studies (n=321,262) yielded 241 additional genome-wide significant loci, although for these no replication sample was available. All associated loci explained 2.9%/2.5%/3.1% of systolic/

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