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Showing 1–17 of 17 results
Advanced filters: Author: Rany M. Salem Clear advanced filters
  • 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
  • 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
  • Approximately 40 percent of people with type 1 diabetes develop kidney disease, but the risk factors are not well understood. Here, the authors identify DNA methylation signatures associated with diabetic kidney disease, of which 21 biomarkers predict the development of kidney failure.

    • Laura J. Smyth
    • Emma H. Dahlström
    • Amy Jayne McKnight
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-16
  • Fine-mapping of blood cell traits in the UK Biobank identifies putative causal variants and enrichment of fine-mapped variants in accessible chromatin of hematopoietic progenitor cells. The study provides an analytical framework for single-variant and single-cell analyses of genetic associations.

    • Jacob C. Ulirsch
    • Caleb A. Lareau
    • Vijay G. Sankaran
    Research
    Nature Genetics
    Volume: 51, P: 683-693
  • This very large genome-wide association study identifies hundreds of new genetic variants influencing adult height in at least 180 loci enriched for genes involved in skeletal growth defects. The results show that the likely causal gene is often located near the most strongly associated variant, that many loci have multiple independently associated variants and that associated variants are enriched for likely functional effects on genes.

    • Hana Lango Allen
    • Karol Estrada
    • Joel N. Hirschhorn
    Research
    Nature
    Volume: 467, P: 832-838
  • Steven McCarroll and colleagues present a detailed study of copy number variation of exons within the human HP (haptoglobin) gene. They show that HP exons undergo recurring deletions that, together with local SNP variation, influence LDL and total cholesterol levels in human populations.

    • Linda M Boettger
    • Rany M Salem
    • Steven A McCarroll
    Research
    Nature Genetics
    Volume: 48, P: 359-366
  • 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
  • Rachel Freathy and colleagues report results of a large-scale genome-wide association study of birth weight. They identify four loci newly associated with this trait and find overlap between birth weight–associated loci and those influencing adult height and metabolism.

    • Momoko Horikoshi
    • Hanieh Yaghootkar
    • Rachel M Freathy
    Research
    Nature Genetics
    Volume: 45, P: 76-82
  • Alkes Price, Po-Ru Loh and colleagues report the BOLT-LMM method for mixed-model association. They apply their method to 9 quantitative traits in 23,294 samples and demonstrate that it provides improvements in computational efficiency as well as gains in power that increase with the size of the cohort, making it useful for the analysis of large cohorts.

    • Po-Ru Loh
    • George Tucker
    • Alkes L Price
    Research
    Nature Genetics
    Volume: 47, P: 284-290
  • Struan Grant and colleagues perform a meta-analysis of genome-wide association studies to identify loci influencing childhood obesity. They discover variants near OLFM4 and HOXB5 associated with this trait and show that these loci are also associated with increased body mass index in adults.

    • Jonathan P Bradfield
    • H Rob Taal
    • Struan F A Grant
    Research
    Nature Genetics
    Volume: 44, P: 526-531