Expressive

rs10457481 - MIR588 - RNU6-200P

Magnitude 2.2 · 3 studies on file

Reported associations

  • A saturated map of common genetic variants associated with human height - Unknown journal (n.d.) · Unknown authors · PubMed 36224396

    ABSTRACT: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation

  • GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer - Unknown journal (n.d.) · Unknown authors · PubMed 34021172

    ABSTRACT: Genetic studies have examined body-shape measures adjusted for body mass index (BMI), while allometric indices are additionally adjusted for height. We performed the first genome-wide association study of A Body Shape Index (ABSI), Hip Index (HI) and the new Waist-to-Hip Index and compared these with traditional indices, using data from the UK Biobank Resource for 219,872 women and 186,825 men with white British ancestry and Bayesian linear mixed-models (BOLT-LMM). One to two thirds of the loci identified for allometric body-shape indices were novel. Most prominent was rs72959041 variant in RSPO3 gene, expressed in visceral adipose tissue and regulating adrenal cell renewal. Highly ranked were genes related to morphogenesis and organogenesis, previously additionally linked to can

  • Larger cerebral cortex is genetically correlated with greater frontal area and dorsal thickness - Unknown journal (n.d.) · Unknown authors · PubMed 36893272

    ABSTRACT: Significance Adjusting vs. retaining global measures in analysis of brain MRI data has been a long-standing question and can have important implications for genomic studies of the cortex. Adjusting for global measures ensures that results for regions of interest are not confounded by overall larger brain size. However, adjusting for globals may throw away important signal when total and regional measures are correlated. We show that retaining vs. adjusting for global brain measures in genomic studies impacts gene discovery, particularly for fronto-parietal cortex. Understanding the genetic factors that contribute to expanded association areas in the human brain, such as the prefrontal cortex, can help provide mechanistic insight into higher human cognition and its unique developm

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