rs1178979 - BAZ1B

Magnitude 2.2 · 5 studies on file

Reported associations

• Genetic variants influencing circulating lipid levels and risk of coronary artery disease - Unknown journal (n.d.) · Unknown authors · PubMed 20864672

  ABSTRACT: Objectives Genetic studies might provide new insights into the biological mechanisms underlying lipid metabolism and risk of CAD. We therefore conducted a genome-wide association study to identify novel genetic determinants of LDL-c, HDL-c and triglycerides. Methods and results We combined genome-wide association data from eight studies, comprising up to 17,723 participants with information on circulating lipid concentrations. We did independent replication studies in up to 37,774 participants from eight populations and also in a population of Indian Asian descent. We also assessed the association between SNPs at lipid loci and risk of CAD in up to 9,633 cases and 38,684 controls. We identified four novel genetic loci that showed reproducible associations with lipids (P values 1.

• Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals - Unknown journal (n.d.) · Unknown authors · PubMed 35945198

  ABSTRACT: Individuals with South Asian ancestry have a higher risk of heart disease than other groups but have been largely excluded from genetic research. Using data from 22,000 British Pakistani and Bangladeshi individuals with linked electronic health records from the Genes & Health cohort, we conducted genome-wide association studies of coronary artery disease and its key risk factors. Using power-adjusted transferability ratios, we found evidence for transferability for the majority of cardiometabolic loci powered to replicate. The performance of polygenic scores was high for lipids and blood pressure, but lower for BMI and coronary artery disease. Adding a polygenic score for coronary artery disease to clinical risk factors showed significant improvement in reclassification. In Mende

• Genetic analyses of diverse populations improves discovery for complex traits - Unknown journal (n.d.) · Unknown authors · PubMed 31217584

  ABSTRACT: Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific. Additionally, effect sizes and their derived risk prediction scores derived in one population may not accurately extrapolate

• Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The Atherosclerosis Risk in Communities (ARIC) Study - Unknown journal (n.d.) · Unknown authors · PubMed 28082259

  ABSTRACT: Objective Previous studies have identified common genetic variants in four chromosomal regions that together account for 14-15% of the variance in circulating levels of protein C. To further characterize the genetic architecture of protein C, we obtained denser coverage at some loci, extended investigation of protein C to low frequency and rare variants, and searched for new associations in genes known to influence protein C. Approach and Results Genetic associations with protein C antigen level were evaluated in up to 10,778 European and 3,190 African American participants ages 45-64 years. Analyses included up to 26 million autosomal variants available after imputation to the 1000 Genomes reference panel along with additional low frequency and rare variants directly genotyp

• Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits - Unknown journal (n.d.) · Unknown authors · PubMed 39537608

  ABSTRACT: Several cardiovascular traits and diseases co-occur with Alzheimer's disease. We mapped their shared genetic architecture using multi-trait genome-wide association studies. Subsequent fine-mapping and colocalisation highlighted 16 genetic loci associated with both Alzheimer's and cardiovascular diseases. We prioritised rs11786896, which colocalised with Alzheimer's disease, atrial fibrillation and expression of PLEC in the heart left ventricle, and rs7529220, which colocalised with Alzheimer's disease, atrial fibrillation and expression of C1Q family genes. Single-cell RNA-sequencing data, co-expression network and protein-protein interaction analyses provided evidence for different mechanisms of PLEC, which is upregulated in left ventricular endothelium and cardiomyocyte

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