rs11057401 - CCDC92

Magnitude 2.2 · 4 studies on file

Reported associations

• DNA Sequence Variation in Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes. - Diabetes (2019) · Emdin CA, Khera AV, Aragam K, Haas M, Chaffin M, Klarin D, Natarajan P, Bick A, Zekavat SM, Nomura A, Ardissino D, Wilson JG, Schunkert H, McPherson R, Watkins H, Elosua R, Bown MJ, Samani NJ, Baber U, Erdmann J, Gupta N, Danesh J, Saleheen D, Gabriel S, Kathiresan S · PubMed 30389748

  A genetic predisposition to higher waist-to-hip ratio adjusted for BMI (WHRadjBMI), a measure of body fat distribution, associates with increased risk for type 2 diabetes. We conducted an exome-wide association study of coding variation in UK Biobank (405,569 individuals) to identify variants that lower WHRadjBMI and protect against type 2 diabetes. We identified four variants in the gene (encoding the activin receptor-like kinase 7 receptor expressed on adipocytes and pancreatic β-cells), which independently associated with reduced WHRadjBMI: Asn150His (-0.09 SD, = 3.4 × 10 ), Ile195Thr (-0.15 SD, = 1.0 × 10 ), Ile482Val (-0.019 SD, = 1.6 × 10 ), and rs72927479 (-0.035 SD, = 2.6 × 10 ). Carriers of these variants exhibited reduced percent abdominal fat in DEXA imaging. Pooling across

• PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION - Unknown journal (n.d.) · Unknown authors · PubMed 30778226

  ABSTRACT: 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 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥ 5%) and 9 low frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology, and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic t

• Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease - Unknown journal (n.d.) · Unknown authors · PubMed 29212778

  ABSTRACT: Supplemental Digital Content is available in the text. Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and environmental factors. Ninety-seven genetic risk loci have been identified to date, but the identification of additional susceptibility loci might be important to enhance our understanding of the genetic architecture of CAD. Objective: To expand the number of genome-wide significant loci, catalog functional insights, and enhance our understanding of the genetic architecture of CAD. Methods and Results: We performed a genome-wide association study in 34 541 CAD cases and 261 984 controls of UK Biobank resource followed by replication in 88 192 cases and 162 544 controls from CARDIoGRAMplusC4D. We identified 75 loci that replicated and

• Genetic Analysis in UK Biobank Links Insulin Resistance and Transendothelial Migration Pathways to Coronary Artery Disease - Unknown journal (n.d.) · Unknown authors · PubMed 28714974

  ABSTRACT: UK Biobank is among the world's largest repositories for phenotypic and genotypic information in individuals of European ancestry. We performed a genome-wide association study in UK Biobank testing ~9 million DNA sequence variants for association with coronary artery disease (4,831 cases; 115,455 controls) and carried out meta-analysis with previously published results. We identified fifteen novel loci, bringing the total number of coronary artery disease-associated loci to 95. Phenome-wide association scanning revealed that CCDC92 likely affects coronary artery disease through insulin resistance pathways whereas experimental analysis suggests that ARHGEF26 impacts the transendothelial migration of leukocytes. FULL TEXT: [INTRO] Coronary artery disease (CAD) is a leading cause

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