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  1. Article

    Open Access

    Understanding the genetic complexity of puberty timing across the allele frequency spectrum

    Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, th...

    Katherine A. Kentistou, Lena R. Kaisinger, Stasa Stankovic, Marc Vaudel… in Nature Genetics (2024)

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  2. Article

    Open Access

    GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification

    Conventional measurements of fasting and postprandial blood glucose levels investigated in genome-wide association studies (GWAS) cannot capture the effects of DNA variability on ‘around the clock’ glucoregula...

    Vasiliki Lagou, Longda Jiang, Anna Ulrich, Liudmila Zudina… in Nature Genetics (2023)

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  3. No Access

    Article

    Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

    Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin ac...

    Alice Williamson, Dougall M. Norris, **anyong Yin, K. Alaine Broadaway… in Nature Genetics (2023)

  4. No Access

    Article

    Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

    We assembled an ancestrally diverse collection of genome-wide association studies (GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non-European descent) through the...

    Anubha Mahajan, Cassandra N. Spracklen, Weihua Zhang, Maggie C. Y. Ng… in Nature Genetics (2022)

  5. No Access

    Article

    Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

    We determined the relationships between DNA sequence variation and DNA methylation using blood samples from 3,799 Europeans and 3,195 South Asians. We identify 11,165,559 SNP–CpG associations (methylation quan...

    Johann S. Hawe, Rory Wilson, Katharina T. Schmid, Li Zhou… in Nature Genetics (2022)

  6. No Access

    Article

    The trans-ancestral genomic architecture of glycemic traits

    Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregate...

    Ji Chen, Cassandra N. Spracklen, Gaëlle Marenne, Arushi Varshney… in Nature Genetics (2021)

  7. No Access

    Article

    Genome-wide association study in 8,956 German individuals identifies influence of ABO histo-blood groups on gut microbiome

    The intestinal microbiome is implicated as an important modulating factor in multiple inflammatory1,2, neurologic3 and neoplastic diseases4. Recent genome-wide association studies yielded inconsistent, underpower...

    Malte Christoph Rühlemann, Britt Marie Hermes, Corinna Bang, Shauni Doms… in Nature Genetics (2021)

  8. No Access

    Article

    Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

    Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 22...

    Anne E. Justice, Tugce Karaderi, Heather M. Highland, Kristin L. Young… in Nature Genetics (2019)

  9. No Access

    Article

    Fine-map** type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

    We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend th...

    Anubha Mahajan, Daniel Taliun, Matthias Thurner, Neil R. Robertson… in Nature Genetics (2018)

  10. No Access

    Article

    Refining the accuracy of validated target identification through coding variant fine-map** in type 2 diabetes

    We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk...

    Anubha Mahajan, Jennifer Wessel, Sara M. Willems, Wei Zhao… in Nature Genetics (2018)

  11. No Access

    Article

    Exome-wide association study of plasma lipids in >300,000 individuals

    Exome-wide genetic analysis on >300,000 individuals identifies associations with plasma lipid traits. Loci significantly associated with cholesterol and triglycerides are examined together to determine the eff...

    Dajiang J Liu, Gina M Peloso, Haojie Yu, Adam S Butterworth, **ao Wang… in Nature Genetics (2017)

  12. No Access

    Article

    Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

    John Perry, Ken Ong and colleagues analyze genotype data on ∼370,000 women and identify 389 independent signals that associate with age at menarche, implicating ∼250 genes. Their analyses suggest causal invers...

    Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman… in Nature Genetics (2017)

  13. No Access

    Article

    Genetic fine map** and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

    Kyle Gaulton, Mark McCarthy, Andrew Morris and colleagues report fine map** and genomic annotation of 39 established type 2 diabetes susceptibility loci. They find that the set of potential causal variants i...

    Kyle J Gaulton, Teresa Ferreira, Yeji Lee, Anne Raimondo, Reedik Mägi… in Nature Genetics (2015)

  14. No Access

    Article

    The impact of low-frequency and rare variants on lipid levels

    Samuli Ripatti and colleagues report the results of a genome-wide association study for circulating lipid levels based on 1000 Genomes Project imputation. Their results implicate several new loci, refine the a...

    Ida Surakka, Momoko Horikoshi, Reedik Mägi, Antti-Pekka Sarin… in Nature Genetics (2015)

  15. No Access

    Article

    Defining the role of common variation in the genomic and biological architecture of adult human height

    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 signif...

    Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers… in Nature Genetics (2014)

  16. No Access

    Article

    Genome-wide association analysis identifies six new loci associated with forced vital capacity

    Stephanie London, Martin Tobin and colleagues report meta-analyses of genome-wide association studies for forced vital capacity (FVC), a spirometric measure of pulmonary function that reflects lung volume. The...

    Daan W Loth, María Soler Artigas, Sina A Gharib, Louise V Wain… in Nature Genetics (2014)

  17. No Access

    Article

    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

    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 Europe...

    Anubha Mahajan, Min ** Go, Weihua Zhang, Jennifer E Below… in Nature Genetics (2014)

  18. No Access

    Article

    Common variants associated with plasma triglycerides and risk for coronary artery disease

    Sekar Kathiresan and colleagues examine 185 common variants using a modified mendelian randomization approach and provide evidence supporting a causal role of triglyceride-rich lipoproteins in the development ...

    Ron Do, Cristen J Willer, Ellen M Schmidt, Sebanti Sengupta, Chi Gao… in Nature Genetics (2013)

  19. No Access

    Article

    Systematic identification of trans eQTLs as putative drivers of known disease associations

    Lude Franke and colleagues report the results of a large expression QTL study performed on peripheral blood samples from 5,311 individuals. They identify trans-eQTL effects for 103 independent loci that were prev...

    Harm-Jan Westra, Marjolein J Peters, Tõnu Esko, Hanieh Yaghootkar… in Nature Genetics (2013)

  20. No Access

    Article

    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

    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 obesit...

    Sonja I Berndt, Stefan Gustafsson, Reedik Mägi, Andrea Ganna… in Nature Genetics (2013)

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