Abstract：
:Severe hypercholesterolemia (HC) is defined as an elevation of total cholesterol (TC) due to the increase in LDL cholesterol (LDL-C) >95th percentile or 190 mg/dl. The high values of LDL-C, especially when it is maintained over time, is considered a risk factor for the development of atherosclerotic cardiovascular disease (ASCVD), mostly expressed as ischemic heart disease (IHD). One of the best characterized forms of severe HC, familial hypercholesterolemia (FH), is caused by the presence of a major variant in one gene (LDLR, APOB, PCSK9, or ApoE), with an autosomal codominant pattern of inheritance, causing an extreme elevation of LDL-C and early IHD. Nevertheless, an important proportion of serious HC cases, denominated polygenic hypercholesterolemia (PH), may be attributed to the small additive effect of a number of single nucleotide variants (SNVs), located along the whole genome. The diagnosis, prevalence, and cardiovascular risk associated with PH has not been fully established at the moment. Cascade screening to detect a specific genetic defect is advised in all first- and second-degree relatives of subjects with FH. Conversely, in the rest of cases of HC, it is only advised to screen high values of LDL-C in first-degree relatives since there is not a consensus for the genetic diagnosis of PH. FH is associated with the highest cardiovascular risk, followed by PH and other forms of HC. Early detection and initiation of high-intensity lipid-lowering treatment is proposed in all subjects with severe HC for the primary prevention of ASCVD, with an objective of LDL-C <100 mg/dl or a decrease of at least 50%. A more aggressive reduction in LDL-C is necessary in HC subjects who associate personal history of ASCVD or other cardiovascular risk factors.
journal_name
Front Genetjournal_title
Frontiers in geneticsauthors
Jarauta E,Bea-Sanz AM,Marco-Benedi V,Lamiquiz-Moneo Idoi
10.3389/fgene.2020.554931subject
Has Abstractpub_date
2020-12-03 00:00:00pages
554931issn
1664-8021journal_volume
11pub_type
杂志文章,评审abstract：:Integration of scientific knowledge into negotiations of the Multilateral Environment Agreements (MEAs) is crucial to effective implementation of those MEAs by ensuring uniformity in their terminology. Recent innovations in the field of biotechnology provoked a discussion over "Digital Sequence Information" (DSI) in f...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.01028
更新日期：2020-09-16 00:00:00
abstract：:Evidence from clinical and epidemiological studies indicates that asthma is associated with allergic diseases including hay fever, allergic rhinitis, and eczema. Genetic analysis demonstrated that asthma had a positive genetic correlation with allergic diseases. A Mendelian randomization (MR) analysis using the rs1696...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.00769
更新日期：2020-08-04 00:00:00
abstract：:Nanopore sequencing from Oxford Nanopore Technologies (ONT) and Pacific BioSciences (PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are revolutionizing the way transcriptomes are analyzed. These methods offer many advantages over most widely used high-throughput short-read RNA sequenci...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2019.00253
更新日期：2019-03-21 00:00:00
abstract：:The megadiversity of the neotropical ichthyofauna has been associated to recent diversification processes, reflecting in subtle or lacking morphological differentiation between species, challenging the classical taxonomic identification. Leporinus friderici occurs in several river basins of South America, and its nomi...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2018.00047
更新日期：2018-02-15 00:00:00
abstract：Background:SOX2 overlapping transcript (SOX2-OT) produces alternatively spliced long non-coding RNAs (lncRNA). Previous studies of the prognostic role of SOX2-OT expression met with conflicting results. The aim of this study was to properly consider the prognostic role of SOX2-OT expression in several cancers. In addit...
journal_title：Frontiers in genetics
pub_type：
doi：10.3389/fgene.2019.01375
更新日期：2020-01-23 00:00:00
abstract：:In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock and he also suffered fr...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2019.00547
更新日期：2019-06-06 00:00:00
abstract：:Breeding livestock that are better able to withstand the onslaught of endemic- and exotic pathogens is high on the wish list of breeders and farmers world-wide. However, the defense systems in both pathogens and their hosts are complex and the degree of genetic variation in resistance and tolerance will depend on the ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2012.00263
更新日期：2012-12-14 00:00:00
abstract：:Phthalates are esters of phthalic acid which are used in cosmetics and other daily personal care products. They are also used in polyvinyl chloride (PVC) plastics to increase durability and plasticity. Phthalates are not present in plastics by covalent bonds and thus can easily leach into the environment and enter the...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2020.00405
更新日期：2020-05-06 00:00:00
abstract：:Huang-lian (Coptis plants in China) are essential medicinal plants in China, C. chinensis var. chinensis and C. deltoidea have been domesticated and cultivated for 700 years. In this study, the genetic diversity patterns and biogeographical information of cultivated Huang-lian and their wild relatives Coptis species w...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.00708
更新日期：2020-07-03 00:00:00
abstract：:Undergraduate students in the biomedical sciences are often interested in future health-focused careers. This presents opportunities for instructors in genetics, molecular biology, and cancer biology to capture their attention using lab experiences built around clinically relevant data. As biomedical science in genera...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.573992
更新日期：2020-12-16 00:00:00
abstract：:Members of the Cryptococcus complex, includes Cryptococcus neoformans (most common fungal infection of the brain) and Cryptococcus gattii (high-impact emerging pathogen worldwide). Currently, the fungal multilocus sequence typing database (Fungal MLST Database) constitutes a valuable data repository of the genes used ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2018.00148
更新日期：2018-04-24 00:00:00
abstract：Background:Genetic association studies have identified single nucleotide polymorphisms (SNPs) related to chronic obstructive pulmonary disease (COPD) susceptibility. The aim of this study was to identify HHIP genetic variants associated with COPD, pulmonary function, and serum and sputum HHIP protein levels in Mexican ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.00882
更新日期：2020-09-24 00:00:00
abstract：:Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for specific editing and uses a trio design (mother, father, offspri...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2019.00949
更新日期：2019-10-11 00:00:00
abstract：:Postpartum depression (PPD) affects up to 19% of women, negatively impacting maternal and infant health. Reductions in plasma oxytocin levels have been associated with PPD and heritability studies have established a genetic contribution. Epigenetic regulation of the oxytocin receptor gene (OXTR) has been demonstrated ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2015.00243
更新日期：2015-07-21 00:00:00
abstract：:The coronavirus disease 2019 (COVID-19) pandemic caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) has become a global public health emergency. G-quadruplex, one of the non-canonical secondary structures, has shown potential antiviral values. However, little is known about the G-quadruplexes of th...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.587829
更新日期：2020-11-27 00:00:00
abstract：:Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55-200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linear association with repeat size and risk for FXPOI has been seen in mult...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2018.00292
更新日期：2018-08-03 00:00:00
abstract：:Nutrition is the most important environmental factor that can influence early developmental processes through regulation of epigenetic mechanisms during pregnancy and neonatal periods. Maternal diets or nutritional compositions contribute to the establishment of the epigenetic profiles in the fetus that have a profoun...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2018.00342
更新日期：2018-08-27 00:00:00
abstract：:Measuring facial traits by quantitative means is a prerequisite to investigate epidemiological, clinical, and forensic questions. This measurement process has received intense attention in recent years. We divided this process into the registration of the face, landmarking, morphometric quantification, and dimension r...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2019.00397
更新日期：2019-05-24 00:00:00
abstract：:RNA-binding proteins (RBPs) are a kind of gene regulatory factor that presents a significant biological effect in the initiation and development of various tumors, including bladder cancer (BLCA). However, the RBP-based prognosis signature for BLCA has not been investigated. In this study, we attempted to develop an R...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.00992
更新日期：2020-08-28 00:00:00
abstract：:Genome-wide association studies (GWAS) have identified numerous associations between genetic loci and individual phenotypes; however, relatively few GWAS have attempted to detect pleiotropic associations, in which loci are simultaneously associated with multiple distinct phenotypes. We show that pleiotropic associatio...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2012.00176
更新日期：2012-09-11 00:00:00
abstract：:Lactation is a dynamic process, which evolved to meet dietary demands of growing offspring. At the same time, the mother's metabolism changes to meet the high requirements of nutrient supply to the offspring. Through strong artificial selection, the strain of milk production on dairy cows is often associated with impa...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2015.00118
更新日期：2015-03-26 00:00:00
abstract：:The New England Centenarian Study (NECS) was founded in 1994 as a longitudinal study of centenarians to determine if centenarians could be a model of healthy human aging. Over time, the NECS along with other centenarian studies have demonstrated that the majority of centenarians markedly delay high mortality risk-asso...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2012.00277
更新日期：2012-11-30 00:00:00
abstract：:Cardiac myocytes (CMs) proliferate robustly during fetal life but withdraw permanently from the cell cycle soon after birth and undergo terminal differentiation. This cell cycle exit is associated with the upregulation of a host of adult cardiac-specific genes. The vast majority of adult CMs (ACMs) do not reenter cell...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2014.00375
更新日期：2014-11-04 00:00:00
abstract：:Among people of European descent, the ability to digest lactose into adulthood arose via strong positive selection of a highly advantageous allele encompassing the lactase gene. Lactose-tolerant and intolerant individuals may have different disease risks due to the shared genetics of their haplotype block. Therefore, ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2020.558762
更新日期：2020-10-29 00:00:00
abstract：:Complex traits are manifestations of intricate gene interaction networks. Evolution of complex traits revolves around the genetic variation in such networks. Genomics has increased our ability to investigate the complex gene interaction networks, and characterize the extent of genetic variation in these networks. Immu...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2015.00222
更新日期：2015-06-19 00:00:00
abstract：:Decreased expression of the fly and worm Indy genes extends longevity. The fly Indy gene and its mammalian homolog are transporters of Krebs cycle intermediates, with the highest rate of uptake for citrate. Cytosolic citrate has a role in energy regulation by affecting fatty acid synthesis and glycolysis. Fly, worm, a...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2013.00047
更新日期：2013-04-08 00:00:00
abstract：:Network propagation is a central tool in biological research. While a number of variants and normalizations have been proposed for this method, each has its own shortcomings and no large scale assessment of those variants is available. Here we propose a novel normalization method for network propagation that is based ...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2019.00004
更新日期：2019-01-22 00:00:00
abstract：:The aging brain undergoes a range of changes varying from subtle structural and physiological changes causing only minor functional decline under healthy normal aging conditions, to severe cognitive or neurological impairment associated with extensive loss of neurons and circuits due to age-associated neurodegenerativ...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2014.00419
更新日期：2014-12-04 00:00:00
abstract：:It is believed that recombination in meiosis serves to reshuffle genetic material from both parents to increase genetic variation in the progeny. At the same time, the number of crossovers is usually kept at a very low level. As a consequence, many organisms need to make the best possible use from the one or two cross...
journal_title：Frontiers in genetics
pub_type： 杂志文章,评审
doi：10.3389/fgene.2018.00609
更新日期：2018-12-12 00:00:00
abstract：:Background: Genomic regions associated with divergent livestock feed efficiency have been found predominantly outside protein coding sequences. Long non-coding RNAs (lncRNA) can modulate chromatin accessibility, gene expression and act as important metabolic regulators in mammals. By integrating phenotypic, transcript...
journal_title：Frontiers in genetics
pub_type： 杂志文章
doi：10.3389/fgene.2019.01130
更新日期：2019-11-22 00:00:00
