p.Gly23Val-MRAS is both necessary and sufficient to elicit a cardiac hypertrophy phenotype in iPSC-CMs that includes increased cell size, changes in cardiac gene expression, and abnormal calcium handling-providing further evidence to establish the monogenetic pathogenicity of p.Gly23Val-MRAS in NS with cardiac hypertrophy.
Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls.
Among the studied SNPs, rs6782181 (p = 0.017) and rs9818870T (p = 0.009) were associated with CAD following adjustment for sex, age and other confounding risk factors.
In relation to lipid profile, rs40593, rs751357, rs6782181 were associated with increased total cholesterol (TC) levels.Summarily, this study suggested that MRAS rs40593 may contribute to the increased risk of area of cerebral infarction of IS in Han population. rs40593, rs751357, and rs6782181 were associated with higher serum TC levels.
In relation to lipid profile, rs40593, rs751357, rs6782181 were associated with increased total cholesterol (TC) levels.Summarily, this study suggested that MRAS rs40593 may contribute to the increased risk of area of cerebral infarction of IS in Han population. rs40593, rs751357, and rs6782181 were associated with higher serum TC levels.
In relation to lipid profile, rs40593, rs751357, rs6782181 were associated with increased total cholesterol (TC) levels.Summarily, this study suggested that MRAS rs40593 may contribute to the increased risk of area of cerebral infarction of IS in Han population. rs40593, rs751357, and rs6782181 were associated with higher serum TC levels.
In the current study, locus C12orf43/rs2258287 was found to be associated with the risk of CAD in the studied Pakistani cohort (OR 0.18; CI 0.08-0.37; p = 0.0001) while no association was observed for MRAS/rs9818870 (OR 1.34; CI 0.65-2.76; p = 0.42).
Interestingly, rs253662 (p = 0.014) and rs6782181 (p = 0.019) were protective against acquiring high low-density lipoprotein-cholesterol (hLDL-chol) levels (p = 0.014), while rs1720819 showed similar effects against CAD (p < 0.0001).
Interestingly, rs253662 (p = 0.014) and rs6782181 (p = 0.019) were protective against acquiring high low-density lipoprotein-cholesterol (hLDL-chol) levels (p = 0.014), while rs1720819 showed similar effects against CAD (p < 0.0001).