APOC3

APOC3

A gene on chromosome 11q23.1-q23.2 that encodes apolipoprotein C-III, a very low-density lipoprotein (VLDL) protein that inhibits lipoprotein and hepatic lipases; it is thought to delay catabolism of triglyceride-rich particles.
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4] Human genes: APOA5, apolipoprotein A-V; PDGFRB, platelet-derived growth factor receptor beta; LDLRAP1, low density lipoprotein receptor adaptor protein 1; MMP9, matrix metallopeptidase 9; VEGFA, vascular endothelial growth factor A; ACTA2, actin, alpha 2, smooth muscle, aorta; APOC3, apolipoprotein C-III; CAV1, caveolin 1; CD40, CD40 molecule; CETP, cholesterol ester transfer protein, plasma; CIITA, class II, major histocompatibility complex, transactivator; FGG, fibrinogen gamma chain; GPX1, glutathione peroxidase 1; LPL, lipoprotein lipase; MBL2, mannose-binding lectin (protein C)2,soluble; MVK, mevalonate kinase; PITX2, paired like homeodomain 2; TNFRSF1A, tumor necrosis factor receptor superfamily, member 1A; UCP2, uncoupling protein 2 (mitochondrial, protein carrier).
La presencia de la "A" en lugar de la "G", que podria interpretarse como una falta de ortografia en el texto genomico de 3,200 millones de letras de nuestro ADN, es suficiente para inactivar al gen APOC3 y, en consecuencia, no se genera la proteina que deberia surgir de ese gen.
One in 20 Amish people has a mutation that destroys a gene, APOC3, involved in triglyceride metabolism, as compared with one in 150 Americans generally.
Finally, in 190 affected sibling pairs from a cohort of Asian Indian families with a strong history of premature coronary artery disease, the Sac-1 single nucleotide polymorphism in the APOC3 gene and hypertension were contributory factors to this atherogenic trait; circulating apoA-I in participants (distinct from HDL-cholesterol) was highly significantly and positively correlated with serum apoB and triglycerides (28).
Modeling the influence of APOC3, APOE, and TNFpolymorphisms on the risk of antiretroviral therapy-associated lipid disorders.
Desorden de los lipidos: Se hallan comprometidos cinco genes que influyen en los niveles sericos de lipidos, con variantes de APOE y APOC3 como principales factores de riesgo de dislipidemia (sobre todo hipertrigliceridemia) asociada con antirretrovirales, en particular con el ritonavir.
The gene, known as APOC3, produces a protein, apoC-III, that normally inhibits the breakdown of triglycerides.
The gene, known as APOC3, produces a protein that normally inhibits the breakdown of triglycerides.
Ordovas and coworkers have also found mutations on APOB and APOC3.
In support, a genome-wide association study in the inbred Old Order Amish identified heterozygosity for a null mutation (R19X) in APOC3 (apolipoprotein C-III) resulting in lower triglycerides and a decrease in coronary artery calcification as a marker for subclinical atherosclerosis (8), suggesting that lifelong deficiency of apolipoprotein C-III promoting triglyceride hydrolysis may have a cardioprotective effect.
Pollin said that those with this mutation of the APOC3 gene have higher levels of HDL-cholesterol, the so-called "good" cholesterol, and lower levels of LDL-cholesterol, the "bad" cholesterol.
13 (G) APOC3, APOA1 13q34 rs4773144 COL4A1, COL4A2 0.