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Apolipoprotein C-III's role in cardiovascular diseases, a short review

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      In this short review I show the important role played by ApoC-III in the lipid dysregulation present in the majority of cardiovascular diseases. With an emphasis on the mutations present in a minority of individuals that confer protection. With this in mind I state that Apoc-III should be considered a valid target for pharmaceutical intervention and cardiovascular disease control and progression.

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      Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

      Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype. We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons. An aggregate of rare mutations in the gene encoding apolipoprotein C3 (APOC3) was associated with lower plasma triglyceride levels. Among the four mutations that drove this result, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G→A and IVS3+1G→T). The fourth was a missense mutation (A43T). Approximately 1 in 150 persons in the study was a heterozygous carrier of at least one of these four mutations. Triglyceride levels in the carriers were 39% lower than levels in noncarriers (P<1×10(-20)), and circulating levels of APOC3 in carriers were 46% lower than levels in noncarriers (P=8×10(-10)). The risk of coronary heart disease among 498 carriers of any rare APOC3 mutation was 40% lower than the risk among 110,472 noncarriers (odds ratio, 0.60; 95% confidence interval, 0.47 to 0.75; P=4×10(-6)). Rare mutations that disrupt APOC3 function were associated with lower levels of plasma triglycerides and APOC3. Carriers of these mutations were found to have a reduced risk of coronary heart disease. (Funded by the National Heart, Lung, and Blood Institute and others.).
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        A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.

        Apolipoprotein C-III (apoC-III) inhibits triglyceride hydrolysis and has been implicated in coronary artery disease. Through a genome-wide association study, we have found that about 5% of the Lancaster Amish are heterozygous carriers of a null mutation (R19X) in the gene encoding apoC-III (APOC3) and, as a result, express half the amount of apoC-III present in noncarriers. Mutation carriers compared with noncarriers had lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. Subclinical atherosclerosis, as measured by coronary artery calcification, was less common in carriers than noncarriers, which suggests that lifelong deficiency of apoC-III has a cardioprotective effect.
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 the HGNC resources in 2013

          The HUGO Gene Nomenclature Committee situated at the European Bioinformatics Institute assigns unique symbols and names to human genes. Since 2011, the data within our database has expanded largely owing to an increase in naming pseudogenes and non-coding RNA genes, and we now have >33 500 approved symbols. Our gene families and groups have also increased to nearly 500, with ∼45% of our gene entries associated to at least one family or group. We have also redesigned the HUGO Gene Nomenclature Committee website creating a constant look and feel across the site and improving usability and readability for our users. The site provides a public access portal to our database with no restrictions imposed on access or the use of the data. Within this article, we review our online resources and data with particular emphasis on the updates to our website.

            Author and article information

            [1 ]Universitatea de Medicina si Farmacie “Victor Babeş”
            Author notes
            [* ]Corresponding author's e-mail address: olteanugheorgheemilian@
            (View ORCID Profile)
            ScienceOpen Research
            18 November 2014
            : 0 (ID: 7a630e5d-984b-4994-8a02-4eef5f437b82 )
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            : 1-3
            2101:XE 10.14293/S2199-1006.1.SOR-MED.AFAFP0.v1
            © 2014 Olteanu G. Emilian.

            This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at .

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            Short Review


            Mutations, Hypertriglyceridemia, CVD, ApoC-III


            Comments: In the present study the author summarizes the findings concerning ApoC-III in metabolic imbalance and cardiovascular diseases. This paper focus on mutations present in a minority of individuals and suggests that ApoC-III should be considered as a possible target for pharmacological intervention. Major Comments 1- The abstract does not address the importance of apolipoprotein C in cardiovascular and metabolic disease. I suggest that the abstract be improved and/or complement the abstract with the previously stated information. 2- In the introduction, the sentence “The overall effects of apoC-III modulation in mice models are supported by genetic association studies in various human populations [5]”. Please add more than one reference to justify the use of the pluralized version of the noun, “study”. Alternatively, if it has only one citation, please adjust the plural to the singular. 3- The introduction does not have a clear objective. Please include the main goal(s) of the study to better guide the reader. 4- The author discusses the relationships among the genetic factors related to ApoC diseases and concludes that there ought to be a specific potential therapeutic target, and suggests this target. However, there is no strong argumentation that leads to this conclusion in the text. I believe that would be important to describe at least one potential target and add a figure summarizing this pathway. Minor Comments; In the first paragraph of the topic “function”, the author indicates the concentration of ApoC in human body; however, I suggest that the author checks this value in more current studies. I suggest an overall English review of the manuscript. There are many sentence are difficult to understand.
            2015-01-14 12:52 UTC
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