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Showing 1–14 of 14 results
Advanced filters: Author: Sonali Pechlivanis Clear advanced filters

  • The genetics and clinical consequences of resting heart rate (RHR) remain incompletely understood. Here, the authors discover new genetic variants associated with RHR and find that higher genetically predicted RHR decreases risk of atrial fibrillation and ischemic stroke.

    • Yordi J. van de Vegte
    • Ruben N. Eppinga
    • Pim van der Harst
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-21

  • Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.

    • Andrew R Wood
    • Tonu Esko
    • Timothy M Frayling
    Research
    Nature Genetics
    Volume: 46, P: 1173-1186

  • Andrew Morris, Mark McCarthy, Michael Boehnke and colleagues report a meta-analysis of genome-wide association studies for type 2 diabetes, including 26,488 cases and 83,964 controls from populations of European, east Asian, south Asian and Mexican and Mexican American ancestry. They identify seven loci newly associated with type 2 diabetes and examine the genetic architecture of disease across populations.

    • Anubha Mahajan
    • Min Jin Go
    • Andrew P Morris
    Research
    Nature Genetics
    Volume: 46, P: 234-244

  • Repeat expansions in the FGF14 gene can cause late-onset cerebellar ataxia (SCA27B), however the defining features of pathogenic expansions remain uncertain. Here, the authors compare the sequence and structure of FGF14 repeat expansions in patients and controls, leading them to suggest a lower pathogenic threshold and emphasizing the importance of sequencing the full expansion for accurate interpretation.

    • Lars Mohren
    • Friedrich Erdlenbruch
    • Christel Depienne
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-20

  • Mark McCarthy, Michael Boehnke, Andrew Morris and colleagues perform large-scale association analyses using the Metabochip to gain insights into the genetic architecture of type 2 diabetes. They report several new susceptibility loci, including two that show sex-differentiated effects on disease risk.

    • Andrew P Morris
    • Benjamin F Voight
    • Mark I McCarthy
    Research
    Nature Genetics
    Volume: 44, P: 981-990

  • 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

  • Erik Ingelsson and colleagues report a large-scale genome-wide meta-analysis for associations to the extremes of anthropometric traits, including body mass index, height, waist-to-hip ratio and clinical obesity. They identify four loci newly associated with height and seven loci newly associated with clinical obesity and find overlap in the genetic structure and distribution of variants identified for these extremes of the trait distributions and for the general population.

    • Sonja I Berndt
    • Stefan Gustafsson
    • Erik Ingelsson
    Research
    Nature Genetics
    Volume: 45, P: 501-512

  • Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine mapping and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants is enriched for overlap with FOXA2 binding sites in human islet and liver cells, and they show that a likely causal variant near MTNR1B increases FOXA2-bound enhancer activity, providing a molecular mechanism to explain the effect of this locus on disease risk.

    • Kyle J Gaulton
    • Teresa Ferreira
    • Andrew P Morris
    Research
    Nature Genetics
    Volume: 47, P: 1415-1425

  • Male-pattern baldness is a common condition in which hair is progressively lost from the scalp. Here, the authors find 23 new genetic variants associated with this condition and suggest that it is not an isolated trait but may share an underlying biological basis with various diseases.

    • Stefanie Heilmann-Heimbach
    • Christine Herold
    • Markus M. Nöthen
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-8

  • Genome-wide analyses identify variants near HDAC9 associated with abdominal aortic calcification and other cardiovascular phenotypes. Functional work shows that HDAC9 promotes an osteogenic vascular smooth muscle cell phenotype, enhancing calcification and reducing contractility.

    • Rajeev Malhotra
    • Andreas C. Mauer
    • Christopher J. O’Donnell
    Research
    Nature Genetics
    Volume: 51, P: 1580-1587

  • Using whole-genome data for single-nucleotide polymorphism and results from genome-wide association studies, the authors show that people’s preference for pairing with those with similar phenotypic traits has genetic causes and consequences.

    • Matthew R. Robinson
    • Aaron Kleinman
    • Peter M. Visscher
    Research
    Nature Human Behaviour
    Volume: 1, P: 1-13