rs11394256 - MARCHF8

Magnitude 2.2 · 4 studies on file

Reported associations

• Rare and common genetic determinants of metabolic individuality and their effects on human health - Unknown journal (n.d.) · Unknown authors · PubMed 36357675

  ABSTRACT: Garrod's concept of 'chemical individuality' has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale. We studied the genetic architecture of the human plasma metabolome using 913 metabolites assayed in 19,994 individuals and identified 2,599 variant-metabolite associations (P < 1.25 × 10−11) within 330 genomic regions, with rare variants (minor allele frequency ≤ 1%) explaining 9.4% of associations. Jointly modeling metabolites in each region, we identified 423 regional, co-regulated, variant-metabolite clusters called genetically influenced metabotypes. We assigned causal genes for 62.4% of these genetically influenced meta

• The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease - Unknown journal (n.d.) · Unknown authors · PubMed 27863252

  ABSTRACT: Summary Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each blood trait explained by the polygenic signal across different genome regulatory domains. Finally, through Mendelian randomization, we

• The power of genetic diversity in genome-wide association studies of lipids - Unknown journal (n.d.) · Unknown authors · PubMed 34887591

  ABSTRACT: Elevated blood lipid levels are heritable risk factors of cardiovascular disease with varying prevalence worldwide due to differing dietary patterns and medication use. Despite advances in prevention and treatment, particularly through the lowering of low-density lipoprotein cholesterol levels, heart disease remains the leading cause of death worldwide. Genome-wide association studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS have been conducted in European ancestry populations and may have missed genetic variants contributing to lipid level variation in other ancestry groups due to differences in allele frequencies, effect sizes, and linkage-disequilibr

• A genetic map of human metabolism across the allele frequency spectrum - Unknown journal (n.d.) · Unknown authors · PubMed 41044249

  ABSTRACT: Genetic studies of human metabolism have been limited in scale and allelic breadth. Here we provide a data-driven map of the genetic regulation of circulating small molecules and lipoprotein characteristics (249 traits) measured using proton nuclear magnetic resonance spectroscopy across the allele frequency spectrum in ~450,000 individuals. Trans-ancestral meta-analyses identify 29,824 locus-metabolite associations mapping to 753 regions with effects largely consistent between men and women and large ancestral groups represented in UK Biobank. We observe and classify extreme genetic pleiotropy, identify regulators of lipid metabolism, and assign effector genes at >100 loci through rare-to-common allelic series. We propose roles for genes less established in metabolic control (

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