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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Light is shed on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility and within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. Expand
Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits
It is shown that CT hepatic steatosis is heritable (∼26%–27%) in family-based Amish, Family Heart, and Framingham Heart Studies, and it is identified common genetic variants influencing CT–assessed Steatosis and risk of NAFLD. Expand
Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts
A mendelian randomization study based on data from multiple cohorts conducted by Karani Santhanakrishnan Vimaleswaran and colleagues re-examines the causal nature of the relationship between vitaminExpand
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
A genome-wide association study is carried out in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations, providing new insight into genetic mechanisms and pathways influencing markers of liver function. Expand
Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche
Using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, robust evidence is found for 123 signals at 106 genomic loci associated with age at menarche and a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition is suggested. Expand
FTO genotype is associated with phenotypic variability of body mass index
A meta-analysis of genome-wide association studies of phenotypic variation using ∼170,000 samples on height and body mass index (BMI) in human populations indicates that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. Expand
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI and the sex-specificity of Genetic Investigation of Anthropometric Traits (GIANT) Consortium, and it is confirmed that this effect is related to weight change with age or the sexually dimorphism of body shape. Expand
Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
This is the first study to confirm the link between early and late menopause and breast cancer risk using genetic information and identifies both common and low-frequency coding variants associated with ANM. Expand
Rare and low-frequency coding variants alter human adult height
The results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways. Expand
WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk
Natural variation in humans and targeted disruption in mice demonstrate that WNT16 is an important determinant of CBT, BMD, bone strength, and risk of fracture. Expand