BA18 - Follow-up studies of genetically determined risk factors
Data Dictionaries and Study Documentation
This section displays all study-related data dictionaries and study-related files. The investigators for this study will upload the datasets, data dictionaries, and other study-related files. Study-related files will be made available to the public one year after the completion of the ancillary study, with the exception of the datasets, which will only be available to those with a Data Distribution Agreement. Those will be available to those with permission to download and will appear as a download link next to the data dictionary
Data Dictionaries
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Study Documents
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| NameBAA18_sampleSelection_BMD 121109.doc | Description |
Related Papers
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation
Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,...
Keywords: Atrial Fibrillation; Rare Variant; Exome Chip
Common and rare coding genetic variation underlying the electrocardiographic PR interval
BACKGROUND: Electrical conduction from the cardiac sinoatrial node to the ventricles is critical for normal heart function. Genome-wide association studies have identified more than a dozen common genetic loci that are associated with PR interval. However, it is unclear whether rare and low-frequency variants also contribute to PR interval heritability. METHODS: We performed large-scale meta-analyses of the PR interval that included 83 367 participants of European ancestry and 9436 of African an...
Keywords: Electrocardiographic Traits; Pr Interval; Exome Chip; Genetic Epidemiology; Arrhythmia
Discovery of novel heart rate-associated loci using the Exome Chip
Background Resting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. GWAS analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation.Aim To discover new genetic loci associated with heart rate from Exome Chip meta-analyses.Methods Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta-analysed heart rate association results from 104,452 Eur...
Keywords: Ecg; Rr Interval; Heart Rate; Exome Chip; Genetic Epidemiology; Arrhythmia
OPG and sRANKL serum levels and incident hip fracture in postmenopausal Caucasian women in the Women's Health Initiative Observational Study
PURPOSE: The osteoprotogerin/receptor activator of NF-kappa ß/receptor activator of NF-kappa ß ligand (OPG/RANK/RANKL) pathway plays a critical role in bone remodeling. This study investigated associations between serum levels of OPG, soluble RANKL (sRANKL), and the ratio of OPG/sRANKL to risk of incident hip fracture. METHODS: A nested case-control study was conducted among postmenopausal, Caucasian women aged 50-79 at baseline (1993-1998), followed for hip fracture through March 2005 in the Wo...
Keywords: Opg (Osteoprotegerin); Rankl (Receptor Activator Of The Nuclear Factor-Kb Ligand); Cytokines; Hip Fracture
Related Studies: BA18
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Large-scale whole-genome sequence data sets offer novel opportunities to identify genetic variation underlying human traits. Here we apply genotype imputation based on whole-genome sequence data from the UK10K and 1000 Genomes Project into 35,981 study participants of European ancestry, followed by association analysis with 20 quantitative cardiometabolic and hematological traits. We describe 17 new associations, including 6 rare (minor allele frequency (MAF) < 1%) or low-frequency (1% < MAF < 5...
Keywords: Genetic Factors; Exome Chip; Rare Variants; Inflammation; Inflammatory Biomarkers; Crp
Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). I...
Keywords: Smoking; Lung Cancer; Single Nucleotide Polymorphism (Snp); Rs1051730; Lung Cancer Disparities; Gene By Environment Interactions
Identification of nine new susceptibility loci for endometrial cancer
Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we present an expanded meta-analysis of 12,906 endometrial cancer cases and 108,979 controls (including new genotype data for 5624 cases) and identify nine novel genome-wide significant loci, including a locus on 12q24.12 previously identified by meta-GWAS of en...
Keywords: Endometrial Cancer; Genetics; Gwas; Genotype Imputation
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (Z...
Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels
Abstract Osteoprotegerin (OPG) is involved in bone homeostasis and tumor cell survival. Circulating OPG levels are also important biomarkers of various clinical traits, such as cancers and atherosclerosis. OPG levels were measured in serum or in plasma. In a meta-analysis of genome-wide association studies in up to 10 336 individuals from European and Asian origin, we discovered that variants >100 kb upstream of the TNFRSF11B gene encoding OPG and another new locus on chromosome 17q11.2 were sig...
Related Studies: BA18
