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Showing 1–19 of 19 results
Advanced filters: Author: Irene Mateo Leach Clear advanced filters
  • 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
  • A series of genetic studies have led to the discovery of novel independent loci and candidate genes associated with red blood cell phenotype; for a proportion of these genes potential single-nucleotide genetic variants are also identified, providing new insights into genetic pathways controlling red blood cell formation, function and pathology.

    • Pim van der Harst
    • Weihua Zhang
    • John C. Chambers
    Research
    Nature
    Volume: 492, P: 369-375
  • Past genome-wide associate studies have identified hundreds of genetic loci that influence body size and shape when examined one trait at a time. Here, Jeff and colleagues develop an aggregate score of various body traits, and use meta-analysis to find new loci linked to body shape.

    • Janina S. Ried
    • Janina Jeff M.
    • Ruth J. F. Loos
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-11
  • Nilesh Samani and colleagues report a genome-wide association study that identifies variants near the TERC locus associated to variance in mean telomere length.

    • Veryan Codd
    • Massimo Mangino
    • Nilesh J Samani
    Research
    Nature Genetics
    Volume: 42, P: 197-199
  • 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
  • Frequencies of rare variants fluctuate over populations, hampering gene discovery. Here the authors use a population-specific reference panel, the Genome of the Netherlands, to discover four novel loci involved in lipid metabolism, including an exonic variant in ABCA6.

    • Elisabeth M. van Leeuwen
    • Lennart C. Karssen
    • Cornelia M. van Duijn
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-6
  • 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
  • Ruth Loos and colleagues report a meta-analysis of genome-wide association studies in 181,171 individuals identifying 14 new loci associated with heart rate and test these for association with cardiac conduction, rhythm disorders and cardiovascular disease. Their experimental studies in Drosophila melanogaster and zebrafish models provide support for a role for 20 candidate genes at 11 of these loci in regulation of heart rate.

    • Marcel den Hoed
    • Mark Eijgelsheim
    • Ruth J F Loos
    Research
    Nature Genetics
    Volume: 45, P: 621-631
  • Abnormal PR interval duration is associated with risk for atrial fibrillation and heart block. Here, van Setten et al. identify 44 PR interval loci in a genome-wide association study of over 92,000 individuals and find genetic overlap with QRS duration, heart rate and atrial fibrillation.

    • Jessica van Setten
    • Jennifer A. Brody
    • Nona Sotoodehnia
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-11
  • A meta-analysis of genome-wide association studies in more than 66,000 individuals identifies 68 new genomic loci that reliably associate with platelet count and volume, and reveals new gene functions.

    • Christian Gieger
    • Aparna Radhakrishnan
    • Nicole Soranzo
    Research
    Nature
    Volume: 480, P: 201-208
  • Anna Köttgen and colleagues report genome-wide association studies for serum urate in over 140,000 individuals from the Global Urate Genetics Consortium (GUGC). They identify 18 loci newly associated with serum urate concentrations and confirm 10 known loci, characterize their associations with gout and include a network analysis suggesting a role for inhibins-activins pathways in regulating urate homeostasis.

    • Anna Köttgen
    • Eva Albrecht
    • Christian Gieger
    Research
    Nature Genetics
    Volume: 45, P: 145-154
  • Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial repolarization, in 100,000 individuals. They identify 35 loci associated with QT interval and highlight a role for calcium regulation in myocardial repolarization.

    • Dan E Arking
    • Sara L Pulit
    • Christopher Newton-Cheh
    Research
    Nature Genetics
    Volume: 46, P: 826-836
  • 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
  • Nilesh Samani and colleagues report a meta-analysis of genome-wide association studies for mean leukocyte telomere length in 37,684 individuals, with replication of selected variants in an additional 10,739 individuals. They identify seven loci associated with mean telomere length, including two that have been associated with several cancers, and also find that alleles associated with shorter telomere length were associated with a higher risk of coronary artery disease.

    • Veryan Codd
    • Christopher P Nelson
    • Nilesh J Samani
    Research
    Nature Genetics
    Volume: 45, P: 422-427