APOB


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APOB

A gene on chromosome 2p24-p23 that encodes apolipoprotein B, the main apoliprotein of chylomicrons and low-density lipoproteins, which appears in plasma as two main isoforms: apoB48 (which is synthesised exclusively in the gut) and apoB100 (which is synthesised in the liver).

Molecular pathology
APOB mutations cause hypobetalipoproteinaemia, normotriglyceridemic hypobetalipoproteinaemia, and hypercholesterolaemia due to ligand-defective apoB.
References in periodicals archive ?
Based on a literature search, we selected the following five polymorphisms in the APOB gene that had been reported to have a mutation frequency greater than 5% and that were associated with alterations in lipid metabolism in our study cohort: rs1042034 (G > A), rs2163204 (T> G), rs512535 (G> A), rs676210 (A>G), and rs679899 (A>G).
The progression group had significantly lower ApoB SI and Lpa SI than those of the non-progression group.
Similarly in mammals, Lapierre said, a purpose of apoB is to transfer fats away from the intestine and liver toward other tissues where they can either be used or stored.
An additional critical finding in this study was an 8% reduction in apoB from baseline in the supplemented group--a significant reduction since apoB is the core protein in the deadly LDL cholesterol particle.
In particular, ApoB in individuals who have normal or low concentrations of LDL cholesterol will be helpful for the diagnosis in individuals with common lipid abnormalities.
In addition, smoking was associated with unfavourable changes in apoA1 and apoB, and in lipoprotein particle size.
Likewise, apoB measurements have been shown to be a significant predictor of CHD, including in meta-analyses of very large observational studies.
The primary target is LDL-C, while non HDL-C and apoB are secondary targets.
Among a regression model comprising 10 variables, apoB and, in men, systolic BP were positively and linearly associated with circulating apoA-I, suggesting a pro-inflammatory role of an aggregated complex of apoB to apoA-I in leading to prehypertension.
In terms of reaching treatment targets in the different risk categories where treatment initiation would be recommended, only 41% (95% CI 31-53) of those taking lipid-modifying medication achieved the recommended target of LDL-C <2 mmol/L or ApoB <0.