Genetic polymorphisms predisposing to common cardiovascular diseases

Cardiovascular disease (CVD) is a major health problem worldwide and is a leading cause of disability and mortality. They include coronary heart disease, cerebrovascular disease, peripheral vascular disease and arterial atherosclerosis. In the most cases, CVDs are polygenic multifactorial socially significant diseases and result from the impact of predisposing environmental factors, mainly related to unhealthy lifestyles, acting on a sensitive genetic terrain. This is due to specific genetic variants that control the regulation of the renin-angiotensin-aldosterone system (RAAS), lipid metabolism, caffeine metabolism, omega-3 fatty acids, homocysteine, etc. Such common genetic variants are designated as SNPs (Single Nucleotide Polymorphisms). The more predisposing variants an individual carries, the more pronounced the genetic risk of developing CVD. Such genetic variations are: variations in the ACE (insertion/deletion—I/D) and AGT (C-344T) genes of the RAAS; variations in the ApoE gene (Apo E2, E3 and E4) associated with cholesterol metabolism, genetic polymorphism C3175G in the gene encoding apolipoprotein C—APOC3; CETP gene with polymorphism rs708272, 279 G>A, associated with high-density cholesterol metabolism; lipoprotein lipase (LPL) gene and polymorphism 1595C>G (Ser447X); a polymorphism in CYP1A2 associated with caffeine sensitivity; polymorphism rs174537 G>T in FADS1 involved in polyunsaturated fatty acid metabolism, and polymorphisms in MTHFR (677 C>T and 1298 A>C) associated with homocysteine metabolism

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements