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Showing 1–11 of 11 results
Advanced filters: Author: Alexander W. Drong Clear advanced filters

  • LINE-1 activity was quantified in a large, pan-cancer dataset, finding locus-specific heterogeneity and new associations using a computational pipeline. A mathematical mediation model of p53 and L1 interactions was inferred. Somatic retrotransposition was seen in Li-Fraumeni Syndrome with heritable TP53 mutations.

    • Alexander Solovyov
    • Julie M. Behr
    • Benjamin D. Greenbaum
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18

  • Genome-wide association meta-analyses of waist-to-hip ratio adjusted for body mass index in more than 224,000 individuals identify 49 loci, 33 of which are new and many showing significant sexual dimorphism with a stronger effect in women; pathway analyses implicate adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution.

    • Dmitry Shungin
    • Thomas W. Winkler
    • Karen L Mohlke
    Research
    Nature
    Volume: 518, P: 187-196

  • A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

    • Adam E. Locke
    • Bratati Kahali
    • Elizabeth K. Speliotes
    Research
    Nature
    Volume: 518, P: 197-206

  • John Chambers, Jaspal Kooner, Pim van der Harst, Shyong Tai, Paul Elliott, Jiang He, Norihiro Kato and colleagues performed a genome-wide association study of blood pressure phenotypes in individuals of European, East Asian and South Asian ancestry. They find trait-associated SNPs at 12 loci, some of which are associated with methylation at nearby CpG sites.

    • Norihiro Kato
    • Marie Loh
    • John C Chambers
    Research
    Nature Genetics
    Volume: 47, P: 1282-1293

  • This meta-analysis of genome-wide association studies identifies four genetic loci associated with circulating leptin levels independent of adiposity. Examination in mouse adipose tissue explants provides functional support for the leptin-associated loci.

    • Tuomas O. Kilpeläinen
    • Jayne F. Martin Carli
    • Ruth J. F. Loos
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-14

  • An analysis of 16 health-related quantitative traits in approximately 350,000 individuals reveals statistically significant associations between genome-wide homozygosity and four complex traits (height, lung function, cognitive ability and educational attainment); in each case increased homozygosity associates with a decreased trait value, but no evidence was seen of an influence on blood pressure, cholesterol, or ten other cardio-metabolic traits.

    • Peter K. Joshi
    • Tonu Esko
    • James F. Wilson
    Research
    Nature
    Volume: 523, P: 459-462

  • Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, the authors perform discovery GWAS for BP in East Asians and meta-analysis in East Asians and Europeans and report ancestry-specific BP SNPs and selection signals.

    • Fumihiko Takeuchi
    • Masato Akiyama
    • Norihiro Kato
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-16

  • Audrey Chu, Matthew Steinhauser, Caroline Fox and colleagues report results of genome-wide association meta-analyses of ectopic-fat traits in individuals of European, African, Hispanic and Chinese ancestry. They identify seven new loci associated with ectopic-fat traits and present functional studies suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis.

    • Audrey Y Chu
    • Xuan Deng
    • Caroline S Fox
    Research
    Nature Genetics
    Volume: 49, P: 125-130