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Article
Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation
Stature (adult height) is one of the most heritable human traits, yet few genes, if any, have been convincingly associated with adult height variation in the general population. Here, we selected 150 tag SNPs ...
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Article
A common variant of HMGA2 is associated with adult and childhood height in the general population
Human height is a classic, highly heritable quantitative trait. To begin to identify genetic variants influencing height, we examined genome-wide association data from 4,921 individuals. Common variants in the HM...
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Article
Common variants in the GDF5-UQCC region are associated with variation in human height
Identifying genetic variants that influence human height will advance our understanding of skeletal growth and development. Several rare genetic variants have been convincingly and reproducibly associated with...
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Article
Identification of ten loci associated with height highlights new biological pathways in human growth
Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,82...
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Article
Open AccessOptimus Primer: A PCR enrichment primer design program for next-generation sequencing of human exonic regions
Polymerase chain reaction (PCR) remains a simple, flexible, and inexpensive method for enriching genomic regions of interest for next-generation sequencing. In order to utilize PCR in this context, a major cha...
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Article
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Ruth Loos and colleagues report results of a large genome-wide association study for body mass index. They identify 18 new loci associated with this trait, some of which map near key hypothalamic regulators of...
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Article
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Cecilia Lindgren and colleagues report results of a large-scale genome-wide association study for waist-to-hip ratio, a measure of body fat distribution. They identify 13 new loci associated with this trait, s...
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Article
Fine-map** at three loci known to affect fetal hemoglobin levels explains additional genetic variation
Guillaume Lettre and colleagues report fine-map** at three loci associated with variation in fetal hemoglobin levels. Their findings implicate multiple common and rare variants at these loci that collectivel...
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Article
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
Red blood cell, white blood cell, and platelet measures, including their count, sub-type and volume, are important diagnostic and prognostic clinical parameters for several human diseases. To identify novel lo...
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Article
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Heribert Schunkert and colleagues report a meta-analysis of 14 genome-wide association studies of coronary disease (CAD) followed by replication in additional cohorts. They confirm 10 previously associated loc...
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Article
Recent progress in the study of the genetics of height
Adult height is a classic polygenic trait of high narrow-sense heritability (h 2 = 0.8). In the late nineteenth to early twentieth century, variation in adult height was used as a model to...
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Article
Genome partitioning of genetic variation for complex traits using common SNPs
Peter Visscher and colleagues report an analysis to partition the genetic variation for several complex traits onto chromosome segments and find that the variation explained is approximately proportional to th...
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Article
Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Nat. Genet. 42, 949–960 (2010); published online 10 October 2010; corrected after print 12 October 2011 In the version of this article initially published, there were errors in Table 1. Specifically, for eight...
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Article
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
Mark Daly, Manuel Rivas and colleagues used next-generation sequencing to study the coding exons of 56 genes from regions previously associated with Crohn's disease. Follow-up analyses in independent case-cont...
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Article
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry
Keri Monda, Kari North, Christopher Haiman and colleagues report a meta-analysis of GWAS for body mass index that is composed of 39,144 individuals of African ancestry, followed by further genoty** in 32,268...
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Article
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
Guillaume Lettre, Alexander Reiner, George Diaz and colleagues use an exome array to identify rare and low-frequency coding variants influencing hematological traits. They find several missense variants in CXCR2
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Article
Large multiethnic Candidate Gene Study for C-reactive protein levels: identification of a novel association at CD36 in African Americans
C-reactive protein (CRP) is a heritable biomarker of systemic inflammation and a predictor of cardiovascular disease (CVD). Large-scale genetic association studies for CRP have largely focused on individuals o...
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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...
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Article
Open AccessComparison of DNA methylation profiles in human fetal and adult red blood cell progenitors
DNA methylation is an epigenetic modification that plays an important role during mammalian development. Around birth in humans, the main site of red blood cell production moves from the fetal liver to the bon...
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Article
Open AccessRare variant association studies: considerations, challenges and opportunities
Genome-wide association studies (GWASs) have successfully uncovered thousands of robust associations between common variants and complex traits and diseases. Despite these successes, much of the heritability o...