Expressive

rs12298541 - HMGA2

Magnitude 2.2 · 5 studies on file

Reported associations

  • Shared genetic architectures of subjective well-being in East Asian and European ancestry populations. - Nature human behaviour (2022) · Kim S, Kim K, Hwang MY, Ko H, Jung SH, Shim I, Cha S, Lee H, Kim B, Yoon J, Ha TH, Kim DK, Kim J, Park WY, Okbay A, Kim BJ, Kim YJ, Myung W, Won HH · PubMed 35589828

    Subjective well-being (SWB) has been explored in European ancestral populations; however, whether the SWB genetic architecture is shared across populations remains unclear. We conducted a cross-population genome-wide association study for SWB using samples from Korean (n = 110,919) and European (n = 563,176) ancestries. Five ancestry-specific loci and twelve cross-ancestry significant genomic loci were identified. One novel locus (rs12298541 near HMGA2) associated with SWB was also identified through the European meta-analysis. Significant cross-ancestry genetic correlation for SWB between samples was observed. Polygenic risk analysis in an independent Korean cohort (n = 22,455) demonstrated transferability between populations. Significant correlations between SWB and major dep

  • Global and Regional Development of the Human Cerebral Cortex: Molecular Architecture and Occupational Aptitudes. - Cerebral cortex (New York, N.Y. : 1991) (2021) · Shin J, Ma S, Hofer E, Patel Y, Vosberg DE, Tilley S, Roshchupkin GV, Sousa AMM, Jian X, Gottesman R, Mosley TH, Fornage M, Saba Y, Pirpamer L, Schmidt R, Schmidt H, Carrion-Castillo A, Crivello F, Mazoyer B, Bis JC, Li S, Yang Q, Luciano M, Karama S, Lewis L, Bastin ME, Harris MA, Wardlaw JM, Deary IE, Scholz M, Loeffler M, Witte AV, Beyer F, Villringer A, Armstrong NJ, Mather KA, Ames D, Jiang J, Kwok JB, Schofield PR, Thalamuthu A, Trollor JN, Wright MJ, Brodaty H, Wen W, Sachdev PS, Terzikhan N, Evans TE, Adams HHHH, Ikram MA, Frenzel S, Auwera-Palitschka SV, Wittfeld K, Bülow R, Grabe HJ, Tzourio C, Mishra A, Maingault S, Debette S, Gillespie NA, Franz CE, Kremen WS, Ding L, Jahanshad N, Sestan N, Pausova Z, Seshadri S, Paus T · PubMed 32198502

    We have carried out meta-analyses of genome-wide association studies (GWAS) (n = 23 784) of the first two principal components (PCs) that group together cortical regions with shared variance in their surface area. PC1 (global) captured variations of most regions, whereas PC2 (visual) was specific to the primary and secondary visual cortices. We identified a total of 18 (PC1) and 17 (PC2) independent loci, which were replicated in another 25 746 individuals. The loci of the global PC1 included those associated previously with intracranial volume and/or general cognitive function, such as MAPT and IGF2BP1. The loci of the visual PC2 included DAAM1, a key player in the planar-cell-polarity pathway. We then tested associations with occupational aptitudes and, as predicted, found that t

  • 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

  • Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk - Unknown journal (n.d.) · Unknown authors · PubMed 41419685

    ABSTRACT: The genetic influences on normal aortic valve function and their impact on aortic stenosis risk are of substantial interest. We used deep learning to measure peak velocity, mean gradient and aortic valve area from magnetic resonance imaging and conducted genome-wide association studies (GWAS) in 59,571 participants in the UK Biobank. Incorporating the aortic valve measurement GWAS with aortic stenosis GWAS using multitrait analysis of GWAS (MTAG), we identified 166 distinct loci (134 with aortic valve traits, 134 with aortic stenosis and 166 unique loci across all GWAS), including PCSK9 and LDLR. The MTAG aortic stenosis PGS was associated with aortic stenosis in All of Us (hazard ratio (HR) = 3.32 for top 5% versus all others, P = 8.8 × 10−22) and Mass General Bri

  • Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses - Unknown journal (n.d.) · Unknown authors · PubMed 27089181

    ABSTRACT: We conducted genome-wide association studies of three phenotypes: subjective well-being (N = 298,420), depressive symptoms (N = 161,460), and neuroticism (N = 170,910). We identified three variants associated with subjective well-being, two with depressive symptoms, and eleven with neuroticism, including two inversion polymorphisms. The two depressive symptoms loci replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes strengthen the overall credibility of the findings, and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal/pancreas tissues are strongly enriched for association. FULL TEXT: [INTRO] Introduction [INTRO] Subjectiv

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