Polimorfismos reguladores y su participación en la patogenia de enfermedades complejas en la era posgenómica

Hernández-Romano, Jesús; Martínez-Barnetche, Jesús; Valverde-Garduño, Verónica

doi:10.1590/s0036-36342009000900011

Cited by 6 publications

(3 citation statements)

References 58 publications

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“…Genetic variations in or near genes that encode proteins may affect protein expression, e.g. a genetic variation that affects the binding of a transcription factor in the promoter region of a gene (Hernandez-Romano et al, 2009), or protein activity, e.g. a genetic variation that leads to a functional modification in the amino acid sequence of the protein, and in turn the ability of these proteins to accurately perform their function in the metabolism (Lindqvist et al, 2007;Borel, 2011).…”

Section: G Genetic Factorsmentioning

confidence: 99%

Vitamin D Bioavailability: State of the Art

Borel

Caillaud

Cano

2013

Critical Reviews in Food Science and Nutrition

274

208

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There has been renewed interest in vitamin D since numerous recent studies have suggested that besides its well-established roles in bone metabolism and immunity, vitamin D status is inversely associated with the incidence of several diseases, e.g., cancers, cardio-vascular diseases, and neurodegenerative diseases. Surprisingly, there is very little data on factors that affect absorption of this fat-soluble vitamin, although it is acknowledged that dietary vitamin D could help to fight against the subdeficient vitamin D status that is common in several populations. This review describes the state of the art concerning the fate of vitamin D in the human upper gastrointestinal tract and on the factors assumed to affect its absorption efficiency. The main conclusions are: (i) ergocalciferol (vitamin D2), the form mostly used in supplements and fortified foods, is apparently absorbed with similar efficiency to cholecalciferol (vitamin D3, the main dietary form), (ii) 25-hydroxyvitamin D (25OHD), the metabolite produced in the liver, and which can be found in foods, is better absorbed than the nonhydroxy vitamin D forms cholecalciferol and ergocalciferol, (iii) the amount of fat with which vitamin D is ingested does not seem to significantly modify the bioavailability of vitamin D3, (iv) the food matrix has apparently little effect on vitamin D bioavailability, (v) sucrose polyesters (Olestra) and tetrahydrolipstatin (orlistat) probably diminish vitamin D absorption, and (vi) there is apparently no effect of aging on vitamin D absorption efficiency. We also find that there is insufficient, or even no data on the following factors suspected of affecting vitamin D bioavailability: (i) effect of type and amount of dietary fiber, (ii) effect of vitamin D status, and (iii) effect of genetic variation in proteins involved in its intestinal absorption. In conclusion, further studies are needed to improve our knowledge of factors affecting vitamin D absorption efficiency. Clinical studies with labeled vitamin D, e.g., deuterated or (13)C, are needed to accurately and definitively assess the effect of various factors on its bioavailability.

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Section: G Genetic Factorsmentioning

confidence: 99%

Vitamin D Bioavailability: State of the Art

Borel

Caillaud

Cano

2013

Critical Reviews in Food Science and Nutrition

274

208

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“…At present, rapid advances in genomic sequencing and the applications of innovative biotechnology have made it available to investigate complex phenomena in biological system, which impart a new impulse to the study of the role of genetic variation in susceptibility to disease. The most common type of genetic variation between individuals is single nucleotide polymorphisms (SNP) 17 . Although most of the genetic variations are considered to be neutral and harmless 18 , no synonymous single nucleotide polymorphism (nsSNP), accounting for nearly half of the known genetic variations linked to human inherited diseases, which occur in a region of coding gene may lead to the replacements of amino acids in corresponding protein product 19 20 .…”

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confidence: 99%

Systematic Analysis of the Genetic Variability That Impacts SUMO Conjugation and Their Involvement in Human Diseases

Shi

Chen

et al. 2015

Sci Rep

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Protein function has been observed to rely on select essential sites instead of requiring all sites to be indispensable. Small ubiquitin-related modifier (SUMO) conjugation or sumoylation, which is a highly dynamic reversible process and its outcomes are extremely diverse, ranging from changes in localization to altered activity and, in some cases, stability of the modified, has shown to be especially valuable in cellular biology. Motivated by the significance of SUMO conjugation in biological processes, we report here on the first exploratory assessment whether sumoylation related genetic variability impacts protein functions as well as the occurrence of diseases related to SUMO. Here, we defined the SUMOAMVR as sumoylation related amino acid variations that affect sumoylation sites or enzymes involved in the process of connectivity, and categorized four types of potential SUMOAMVRs. We detected that 17.13% of amino acid variations are potential SUMOAMVRs and 4.83% of disease mutations could lead to SUMOAMVR with our system. More interestingly, the statistical analysis demonstrates that the amino acid variations that directly create new potential lysine sumoylation sites are more likely to cause diseases. It can be anticipated that our method can provide more instructive guidance to identify the mechanisms of genetic diseases.

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“…Mientras que los llamados SNPs-RNA estructurales (srSNP) se encuentran tanto en los RNA primarios como en los secundarios, esto incluye a las regiones no traducidas (5´UTR y 3´UTR) y regiones intrónicas y codificantes (sin que ocurra un cambio de aminoácido), llegando a afectar la estructura y función de los RNA, incluyendo el corte y empalme (splicing), la regulación de la traducción de los RNAm a proteínas, la funcionalidad de las proteínas y la estabilidad de los RNAm, la poliadenilación de los RNAm, entre otros procesos biológicos normales de las células (Hernández-Romano et al 2009;Sadee et al 2011;. Por último, los SNPs en regiones codificantes puede representar un cambio en la secuencia de una proteína (SNP no sinónimo) y, por lo tanto, potencialmente alterar su función o bien puede no cambiar su secuencia (SNP sinónimo) (Hernández-Romano et al 2009).…”

Section: Figura 2 Estudio De Asociación Casos Y Controles La Variante...unclassified

Análisis de asociación entre polimorfismos de un solo nucleótido en los genes TLRs endosomales y enfermedades inmunes en pacientes pediátricos

Sánchez Brena

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Polimorfismos reguladores y su participación en la patogenia de enfermedades complejas en la era posgenómica

Cited by 6 publications

References 58 publications

Vitamin D Bioavailability: State of the Art

Vitamin D Bioavailability: State of the Art

Systematic Analysis of the Genetic Variability That Impacts SUMO Conjugation and Their Involvement in Human Diseases

Análisis de asociación entre polimorfismos de un solo nucleótido en los genes TLRs endosomales y enfermedades inmunes en pacientes pediátricos

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