Vitamin D Receptor Gene Polymorphism and Vitamin D Status in Population of Patients with Cardiovascular Disease-A Preliminary Study.

The association between vitamin D receptor (VDR) polymorphism and the risk of cardiovascular diseases (CVD) remains unclear. This study aimed to assess a relationship between the VDR genotypes, plasma concentrations of vitamin D metabolites, and the occurrence of cardiovascular and metabolic disorders. Fifty-eight patients treated for various cardiological afflictions were included. Identification of VDR polymorphisms: ApaI, TaqI, BsmI, and FokI were carried out using the PCR-RFLP method. Plasma concentrations of 25-hydroxyvitamin-D2, 25-hydroxyvitamin-D3, and 3-epi-25-hydroxyvitamin D3 were assessed by the UPLC-MS/MS method. Lower incidence of BsmI AA genotype in the studied patients was observed compared with healthy controls, but the difference was insignificant. Among patients with the TT genotype, frequency of hypertension was higher than among carriers of other ApaI genotypes (p < 0.01). In addition, carriers of the TT ApaI, TC TaqI, and GA BsmI genotypes had an increased risk of obesity, while the presence of the FokI TT genotype was associated with a higher incidence of heart failure and hypertension. In conclusion, the BsmI AA genotype can be protective against CVD, but this observation needs study on a larger group of patients. Particular VDR genotypes were associated with 25-hydroxyvitamin-D levels, and the mechanism of this association should be further investigated.

The Role of miR-155 in Nutrition: Modulating Cancer-Associated Inflammation.

Nutrition plays an important role in overall human health. Although there is no direct evidence supporting the direct involvement of nutrition in curing disease, for some diseases, good nutrition contributes to disease prevention and our overall well-being, including energy level, optimum internal function, and strength of the immune system. Lately, other major, but more silent players are reported to participate in the body's response to ingested nutrients, as they are involved in different physiological and pathological processes. Furthermore, the genetic profile of an individual is highly critical in regulating these processes and their interactions. In particular, miR-155, a non-coding microRNA, is reported to be highly correlated with such nutritional processes. In fact, miR-155 is involved in the orchestration of various biological processes such as cellular signaling, immune regulation, metabolism, nutritional responses, inflammation, and carcinogenesis. Thus, this review aims to highlight those critical aspects of the influence of dietary components on gene expression, primarily on miR-155 and its role in modulating cancer-associated processes.

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women.

Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VDR gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women. METHODS: The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine VDR gene variants. RESULTS: Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, p = 0.0001) and decreased BMD (A-T-G, -0.09 g/cm2, p = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm2, p = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state. CONCLUSION: Our novel data on the relationship between VDR gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.

Evaluación del estado nutricional en población infantil del municipio de Pasto, Colombia / Evaluation of the nutritional state of children in Pasto municipality, Colombia

Introducción: En el campo de la salud pública la tendencia es priorizar el tema de la vigilancia nutricional en la población, a través del monitoreo del comportamiento del estado nutricional. Objetivo: Evaluar la situación nutricional en menores de 18 años del municipio Pasto en el periodo 2014-2016. Métodos: Estudio observacional-descriptivo de la situación nutricional de la población de estudio, reportada en las bases de datos de la Secretaría de Salud Municipal de Pasto-Colombia. Resultados: Se analizaron 158 614 registros, de los cuales 40,82 por ciento fueron de menores de 5 años y 9,18 por ciento en edades entre 5-18 años. Respecto a la desnutrición global se encontró que 18,9 por ciento de los menores fueron diagnosticados en riesgo: 7,2 por ciento con desnutrición global aguda y 0,7 por ciento con desnutrición global severa. Para la desnutrición aguda 10,4 por ciento tuvo diagnóstico de riesgo, 4,8 por ciento desnutrición aguda y 0,8 por ciento desnutrición aguda severa. En la estimación de desnutrición crónica 30,9 por ciento de los niños presentó riesgo de retardo en el crecimiento y 13,05 por ciento retardo en el crecimiento. El 16,7 por ciento de la población tuvo sobrepeso, 4,2 por ciento obesidad, 10,6 por ciento riesgo de delgadez y 2,7 por ciento delgadez. Conclusiones: De acuerdo con la Encuesta Nacional de la Situación Nutricional en Colombia, la desnutrición disminuyó en el país entre los años 2010 a 2015. Sin embargo, aún existe desnutrición en el municipio de Pasto que, junto al aumento de la tasa de sobrepeso y obesidad en niños y adolescentes, representa una situación de malnutrición, que podría verse reflejada en importantes problemas para la salud por la generación de enfermedades crónicas a la que conlleva(AU)

Introduction: In the field of public health, the tendency is to prioritize the issue of nutritional surveillance in the population, through the monitoring of the nutritional state´s behavior. Objective: Assess the nutritional state of children under 18 years old in Pasto municipality in the period 2014-2016. Methods: Observational-descriptive study of the studied population´s nutritional state reported in the databases of the Municipal Health Secretariat of Pasto-Colombia. Results: 158 614 records were analyzed, of which 40.82 percent were children under 5 years and 9.18 percent in ages between 5 and 18 years. Regarding global malnutrition, 18.9 percent of children were diagnosed at risk: 7.2 percent with acute global malnutrition and 0.7 percent with severe global malnutrition. For acute malnutrition, 10.4 percent had a risk diagnosis, 4.8 percent acute malnutrition and 0.8 percent severe acute malnutrition. In the estimate of chronic malnutrition, 30.9 percent of the children presented risk of growth retardation and 13.05 percent growth retardation. 16.7 percent of the population were overweight, 4.2 percent obese, 10.6 percent risk of thinness and 2.7 percent thinness. Conclusions: According to the National Survey of the Nutritional Situation in Colombia, malnutrition decreased in the country between 2010 and 2015. However, there is still malnutrition in Pasto municipality which, together with the increase in the rate of overweight and obesity in children and adolescents, represents a situation of malnutrition, which could be reflected in major health problems from the generation of chronic diseases to which it leads(AU)

Diverse Effects of Combinations of Maternal-Neonatal VDR Polymorphisms and 25-Hydroxyvitamin D Concentrations on Neonatal Birth Anthropometry: Functional Phenocopy Variability Dependence, Highlights the Need for Targeted Maternal 25-Hydroxyvitamin D Cut-Offs during Pregnancy.

Vitamin D receptor (VDR) polymorphisms have been associated with a plethora of adverse pregnancy and offspring outcomes. The aim of this study was to evaluate the combined effect of maternal and neonatal VDR polymorphisms (ApaI, TaqI, BsmI, FokI, Tru9I) and different maternal and neonatal 25(OH)D cut-offs on neonatal birth anthropometry. This cross-sectional study included data and samples from a cohort of mother-child pairs at birth. A detailed neonatal anthropometry analysis at birth was also conducted. Different 25(OH)D cut-offs for neonates and mothers were included, according to their vitamin D status at birth: for neonates, cut-offs of [25(OH)D ≤ 25 and > 25 nmol/L] and [25(OH)D ≤ 50 nmol/L] were adopted, whereas for mothers, a 25(OH)D cut-off of [25(OH)D ≤ 50 and > 50 nmol/L)] was investigated. Following this classification, maternal and neonatal VDR polymorphisms were evaluated to investigate the potential different effects of different neonatal and maternal 25(OH)D cut-offs on neonatal birth anthropometry. A total of 69 maternal-neonatal dyads were included in final analysis. Weight, neck rump length, chest circumference, abdominal circumference, abdominal circumference (iliac), high thigh circumference, middle thigh circumference, lower arm radial circumference, and lower leg calf circumference of neonates who had the TAQl SNP TT genotype and maternal 25(OH)D < 50 nmol/L were significantly higher than that of neonates who had the Tt or tt genotypes (p = 0.001, Hg = 1.341, p = 0.036, Hg = 0.976, p = 0.004, Hg = 1.381, p = 0.001, Hg = 1.554, p = 0.001, Hg = 1.351, p = 0.028, Hg = 0.918, p = 0.008, Hg = 1.090, p = 0.002, Hg = 1.217, and p = 0.020, Hg = 1.263, respectively). Skin fold high anterior was significantly lower in neonates who had the BSMI SNP BB genotype compared to that of neonates with Bb or bb genotypes (p = 0.041, Hg = 0.950), whereas neck rump length was significantly higher in neonates who had the FOKI SNP FF genotype compared to that of neonates who had Ff or ff genotypes (p = 0.042, Hg = 1.228). Regarding neonatal VDR polymorphisms and cut-offs, the abdominal circumference (cm) of neonates who had the TAQI SNP TT genotype and 25(OH)D < 25 nmol/L were significantly higher than that of neonates who had the Tt or tt genotypes (p = 0.038, Hg = 1.138). In conclusion, these results indicate that the maternal TAQI VDR polymorphism significantly affected neonatal birth anthropometry when maternal 25(OH) concentrations were <50 nmol/L, but not for a higher cut-off of >50 nmol/L, whereas this effect is minimally evident in the presence of neonatal TAQI polymorphism with neonatal 25(OH)D values <25 nmol/L. The implication of these findings could be incorporated in daily clinical practice by targeting a maternal 25(OH)D cut-off >50 nmol/L, which could be protective against any effect of genetic VDR variance polymorphism on birth anthropometry.

Exploring the potential impact of nutritionally actionable genetic polymorphisms on idiopathic male infertility: a review of current evidence.

Infertility affects about 15% of the world's population. In 40%-50% of infertile couples, a male factor underlies the problem, but in about 50% of these cases, the etiology of male infertility remains unexplained. Some clinical data show that lifestyle interventions may contribute to male reproductive health. Cessation of unhealthy habits is suggested for preserving male fertility; there is growing evidence that most preexisting comorbidities, such as obesity and metabolic syndrome, are highly likely to have an impact on male fertility. The analysis of genetic polymorphisms implicated in metabolic activity represents one of the most exciting areas in the study of genetic causes of male infertility. Although these polymorphisms are not directly connected with male infertility, they may have a role in specific conditions associated with it, that is, metabolic disorders and oxidative stress pathway genes that are potentially associated with an increased risk of male infertility due to DNA and cell membrane damage. Some studies have examined the impact of individual genetic differences and gene-diet interactions on male infertility, but their results have not been synthesized. We review the current research to identify genetic variants that could be tested to improve the chances of conceiving spontaneously through personalized diet and/or oral vitamin and mineral supplementation, by examining the science of genetic modifiers of dietary factors that affect nutritional status and male fertility.

Estado nutricional de indivíduos com Comprometimento Cognitivo Leve e Doença de Alzheimer em relação ao Selênio e sua associação com parâmetros que predispõem ao declínio cognitivo / Nutritional status of subjects with mild cognitive impairment and Alzheimer's disease in relation to selenium and its association with paramenters that predispose to cognitive decline

A Doença de Alzheimer (DA) é a principal forma de demência e um dos grandes desafios no sistema de saúde do século 21. O Comprometimento Cognitvo Leve (CCL) é um estágio que antecede a DA e que compartilha algumas vias metabólicas em comum. A fisiopatologia da DA é caracterizada pela ampla morte neuronal e pela presença de placas neuríticas e emaranhados neurofibrilares, respectivamente relacionadas ao acúmulo de peptídeo beta amiloide (Aß) em tecidos cerebrais e alterações no citoesqueleto que se originam da hiperfosforilação da proteína tau nos neurônios. Algumas linhas de evidência sustentam a hipótese de que o estresse oxidativo, nitrosativo e a inflamação tenham um papel importante na patogênese tanto do DA como do CCL. O selênio, mineral essencial ao ser humano, encontra-se incorporado ao sítio ativo de 25 selenoproteínas, das quais pelo menos um terço apresenta papel antioxidante, além de potencialmente modularem o sistema inflamatório. Deste modo, o estado nutricional adequado dos indivíduos relativo ao selênio, parece exercer efeito neuroprotetor, reduzindo o risco para o CCL e DA e retardando a progressão destas doenças. A entrega de selênio para o cérebro se dá pela interação da selenoproteína P (SELENOP) com o receptor de apolipoproteína E2 (ApoER2). A apolipoproteína E (ApoE) também interage com o ApoER2 no metabolismo de lipídeos. Assim, pode-se pensar que indivíduos portadores do polimorfismo do gene da apolipoproteína E ε4 (APOE ε4), o principal polimorfismo genético para o aumento no risco de desenvolvimento de DA, possam ter essa entrega de selênio prejudicada para o cérebro uma vez que os receptores ApoER2 dos portadores do polimorfismo de APOE ε4 são sequestrados para compartimentos intracelulares, sendo menos expressos na membrana plasmática e portanto diminuindo a interação com a SELENOP. Este trabalho teve por objetivo avaliar se a distribuição do selênio no plasma e líquor de indivíduos portadores de CCL e DA é afetada pelo alelo APOE ε4, avaliar se o estado nutricional do indivíduo em relação ao selênio afeta marcadores de assinatura biológica para DA (peptídeo beta amilóide, proteína tau e proteína tau fosforilada) e concentrações de citocinas inflamatórias. Para tanto, foram selecionadas amostras de plasma e líquor do banco de material biológico do Instituto de Psiquiatria da FMUSP, sendo 14 indivíduos do grupo CCL, 28 indivíduos do grupo DA e 28 indivíduos controles, de ambos os gêneros, com idade acima de 60 anos e residentes na cidade de São Paulo. Foram avaliados os seguintes marcadores: concentrações de selênio no plasma e líquor, concentrações SELENOP no plasma e líquor, citocinas inflamatórias, fator neurotrófico derivado do cérebro (BDNF) e marcadores de assinatura biológica para DA. Não foi evidenciada diferença entre os três diferentes grupos em relação ao selênio e a SELENOP da mesma forma que não houve influência do genótipo APOE ε4 nas concentrações de selênio e SELENOP, porém houve uma tendência de menores concentrações de selênio plasmático nos carreadores do alelo APOE ε4. Também houve uma tendência a uma menor pontuação nos testes MMSE e CAMCOG em indivíduos com menores concentrações plasmáticas de selênio. Não se evidenciou que o estado nutricional dos indivíduos em relação ao selênio influencie as concentrações de marcadores para assinatura biológica para DA e de citocinas inflamatórias, com exceção da IL-10 que apresentou correlação positiva com SELENOP plasmática. A partir desses resultados, conclui-se que o estado nutricional dos indivíduos relativo ao selênio parece não ter influencia significativa em aspectos do CCL e DA e que sua distribuição não é alterada pelo genótipo APOE ε4

Alzheimer's disease (AD) is the main form of dementia and one of the major challenges in the healthcare system of the 21st century. Mild Cognitive Impairment (MCI) is a stage that precedes AD and shares common metabolic pathways. The pathophysiology of AD is characterized by extensive neuronal death, presence of neuritic plaques and neurofibrillary tangles, respectively related to the accumulation of amyloid beta peptide (Aß) in brain tissues and changes in the cytoskeleton that originate from hyperphosphorylation of the Tau protein in neurons. Some lines of evidence support the hypothesis that oxidative, nitrosative stress and inflammation play an important role in the pathogenesis of both AD and MCI. Selenium, an essential mineral to humans, is incorporated into the active site of 25 selenoproteins, of which at least one third has an antioxidant role, in addition to its potential in modulating the inflammatory system. Therefore, the appropriate nutritional status related to selenium seems to exert a neuroprotective effect, reducing the risk for MCI and AD and decreasing the progression of these diseases. Selenium is delivered to the brain by the interaction of selenoprotein P (SELENOP) with the ApoE2 receptor (ApoER2). Apolipoprotein E (ApoE) also interacts with ApoER2 in lipid metabolism. Thus, it can be speculated that individuals that carry apolipoprotein E ε4 gene (APOE ε4), the main genetic polymorphism that increases the risk of AD, may have impaired selenium delivery to the brain since ApoER2 receptors of the APOE ε4 carriers are sequestered to intracellular compartments, being less expressed in the plasma membrane decreasing its interaction with SELENOP. This study aimed to assess whether the distribution of selenium in the plasma and CSF of subjects with MCI and AD is affected by the APOE ε4 allele, evaluate whether the nutritional status of selenium affects biological signature markers for AD (amyloid beta peptide, tau protein and phosphorylated tau protein) and to asses the concentrations of inflammatory cytokines. For this purpose, plasma and cerebrospinal fluid (CSF) samples were selected from the biological material bank of the Institute of Psychiatry of FMUSP, with 14 subjects from the MCI group, 28 from the DA group and 28 from control subjects, both genders, aged over 60 years and São Paulo residents. The following markers were evaluated: selenium concentrations in plasma and CSF, SELENOP concentrations in plasma and CSF, inflammatory cytokines, brain-derived neurotrophic factor (BDNF) and biological signature for AD. There was no difference between the three different groups in relation to selenium and SELENOP; in addition, there was no influence of the APOE ε4 genotype on selenium and SELENOP concentrations, but there was a tendency towards lower plasma selenium concentrations in the APOE ε4 carriers. There was also a tendency for lower scores on the MMSE and CAMCOG tests in subjects with lower plasma selenium concentrations. It was not shown that selenium nutritional status influences the concentrations of biological signature for AD and inflammatory cytokines, with the exception of IL-10 which showed a positive correlation with plasma SELENOP. From these results, we concluded that selenium nutritional status does not seem to have a significant influence in aspects of MCI and DA and that its distribution is not altered by the APOE genotype ε4

Nutrition in Cancer Therapy in the Elderly-An Epigenetic Connection?

The continuous increase in life expectancy results in a steady increase of cancer risk, which consequently increases the population of older adults with cancer. Older adults have their age-related nutritional needs and often suffer from comorbidities that may affect cancer therapy. They frequently are malnourished and present advanced-stage cancer. Therefore, this group of patients requires a special multidisciplinary approach to optimize their therapy and increase quality of life impaired by aging, cancer, and the side effects of therapy. Evaluation strategies, taking advantage of comprehensive geriatric assessment tools, including the comprehensive geriatric assessment (CGA), can help individualize treatment. As epigenetics, an emerging element of the regulation of gene expression, is involved in both aging and cancer and the epigenetic profile can be modulated by the diet, it seems to be a candidate to assist with planning a nutritional intervention in elderly populations with cancer. In this review, we present problems associated with the diet and nutrition in the elderly undergoing active cancer therapy and provide some information on epigenetic aspects of aging and cancer transformation. Nutritional interventions modulating the epigenetic profile, including caloric restriction and basal diet with modifications (elimination diet, supplementary diet) are discussed as the ways to improve the efficacy of cancer therapy and maintain the quality of life of older adults with cancer.

Current State of Evidence: Influence of Nutritional and Nutrigenetic Factors on Immunity in the COVID-19 Pandemic Framework.

The pandemic caused by the new coronavirus has caused shock waves in many countries, producing a global health crisis worldwide. Lack of knowledge of the biological mechanisms of viruses, plus the absence of effective treatments against the disease (COVID-19) and/or vaccines have pulled factors that can compromise the proper functioning of the immune system to fight against infectious diseases into the spotlight. The optimal status of specific nutrients is considered crucial to keeping immune components within their normal activity, helping to avoid and overcome infections. Specifically, the European Food Safety Authority (EFSA) evaluated and deems six vitamins (D, A, C, Folate, B6, B12) and four minerals (zinc, iron, copper and selenium) to be essential for the normal functioning of the immune system, due to the scientific evidence collected so far. In this report, an update on the evidence of the contribution of nutritional factors as immune-enhancing aspects, factors that could reduce their bioavailability, and the role of the optimal status of these nutrients within the COVID-19 pandemic context was carried out. First, a non-systematic review of the current state of knowledge regarding the impact of an optimal nutritional status of these nutrients on the proper functioning of the immune system as well as their potential role in COVID-19 prevention/treatment was carried out by searching for available scientific evidence in PubMed and LitCovid databases. Second, a compilation from published sources and an analysis of nutritional data from 10 European countries was performed, and the relationship between country nutritional status and epidemiological COVID-19 data (available in the Worldometers database) was evaluated following an ecological study design. Furthermore, the potential effect of genetics was considered through the selection of genetic variants previously identified in Genome-Wide Association studies (GWAs) as influencing the nutritional status of these 10 considered nutrients. Therefore, access to genetic information in accessible databases (1000genomes, by Ensembl) of individuals from European populations enabled an approximation that countries might present a greater risk of suboptimal status of the nutrients studied. Results from the review approach show the importance of maintaining a correct nutritional status of these 10 nutrients analyzed for the health of the immune system, highlighting the importance of Vitamin D and iron in the context of COVID-19. Besides, the ecological study demonstrates that intake levels of relevant micronutrients-especially Vitamins D, C, B12, and iron-are inversely associated with higher COVID-19 incidence and/or mortality, particularly in populations genetically predisposed to show lower micronutrient status. In conclusion, nutrigenetic data provided by joint assessment of 10 essential nutrients for the functioning of the immune system and of the genetic factors that can limit their bioavailability can be a fundamental tool to help strengthen the immune system of individuals and prepare populations to fight against infectious diseases such as COVID-19.

Gene-Diet Interactions in Colorectal Cancer: Survey Design, Instruments, Participants and Descriptive Data of a Case-Control Study in the Basque Country.

Epidemiologic studies have revealed inconsistent evidence of gene-diet interaction in relation to colorectal cancer (CRC). The aim of this study was to analyze them in a sample of cases and controls from the population-based bowel cancer screening program of the Osakidetza/Basque Health Service. This study analyzed dietetic, genetic, demographic, socioeconomic factors and lifestyles. In the present manuscript, the survey design, sampling, instruments, measurements and related quality management were presented. Moreover, we analyze differences between cases and controls in some data, especially those related to diet. The participants were 308 cases and 308 age- and sex-matched subjects as controls. Cases were more likely than controls to have overweight/obesity (67.5% vs. 58.1%, p < 0.05), a lower intake of vitamin B2 (0.86 ± 0.23 vs. 0.92 ± 0.23 mg/1000 kcal, p < 0.01) and calcium:phosphorus ratio (0.62 ± 0.12 vs. 0.65 ± 0.13, p < 0.01). A higher proportion of cases than controls did not meet the Nutritional Objectives for saturated fatty acids (85.7% vs. 67.5%, p < 0.001) or cholesterol (35.4% vs. 25.0%, p < 0.01). In conclusion, the present study provides valuable data for analyzing the complexity of gene-diet interaction in relation to CRC. The results presented here suggest that overweight/obesity and a high intake of certain dietary components, especially saturated fatty acids and cholesterol, are more frequent in cases than in controls.

Association of taste receptor gene polymorphisms with dental caries.

This study was performed to evaluate the interplay between dental caries, nutritional status, and genetic polymorphisms in TAS1R1 and TAS1R2 (taste receptor, type 1, member 1 and 2) in preschool children and pre-adolescents. We included 525 subjects (306 preschool children and 219 pre-adolescents). Parents/caregivers answered a self-administered questionnaire about their children's systemic health, characteristics, oral hygiene habits, and diet. Clinical examination was performed to evaluate dental caries and nutritional status. Saliva samples were collected for DNA extraction. The genotyping of rs17492553 ( TAS1R1 ), rs3935570, and rs4920566 ( TAS1R2 ) polymorphisms was performed using real-time PCR with Taqman Genotyping Master Mix and SNP assay. Both univariate and multivariate Poisson regression analyses with robust variance were used for the data analysis. In preschool children, consumption of sweets between meals increased the prevalence of dental caries by 85% (PR c = 1.85; 95%CI 1.39-2.46; p < 0.001), whereas in pre-adolescents, this prevalence increased by 34% (PR a = 1.34; 95%CI 1.11-1.62; p = 0.002), regardless of genetic polymorphisms . Moreover, individuals carrying at least one allele C in rs17492553 presented 23% more prevalence of dental caries (PR a = 1.23; 95%CI 1.02-1.49 p = 0.030). Nutritional status was not associated with dental caries, neither with genetic polymorphisms . Consumption of sweets between meals increased the prevalence of dental caries. In pre-adolescents, rs17492553 genetic polymorphism in TAS1R1 was associated with dental caries.

Nutrients and Porphyria: An Intriguing Crosstalk.

Porphyria refers to a group of fascinating diseases from a metabolic and nutritional standpoint as it provides an example of how metabolic manipulation can be used for therapeutic purposes. It is characterized by defects in heme synthesis, particularly in the erythrocytes and liver. Specific enzymes involved in heme biosynthesis directly depend on adequate levels of vitamins and minerals in the tissues. Moreover, micronutrients that are required for producing succinyl CoA and other intermediates in the Krebs (TCA) cycle are indirectly necessary for heme metabolism. This review summarizes articles that describe the nutritional status, supplements intake, and dietary practices of patients affected by porphyria, paying special attention to the therapeutic use of nutrients that may help or hinder this group of diseases.

Polymorphism of CLOCK Gene rs3749474 as a Modulator of the Circadian Evening Carbohydrate Intake Impact on Nutritional Status in an Adult Sample.

The aim of this study was to evaluate the distribution of energy intake and macronutrients consumption throughout the day, and how its effect on nutritional status can be modulated by the presence of the rs3749474 polymorphism of the CLOCK gene in the Cantoblanco Platform for Nutritional Genomics ("GENYAL Platform"). This cross-sectional study was carried out on 898 volunteers between 18 and 69 years old (65.5% women). Anthropometric measurements, social issues and health, dietary, biochemical, genetic, and physical activity data were collected. Subsequently, 21 statistical interaction models were designed to predict the body mass index (BMI) considering seven dietary variables analyzed by three genetic models (adjusted by age, sex, and physical activity). The average BMI was 26.9 ± 4.65 kg/m2, 62.14% presented an excess weight (BMI > 25 kg/m2). A significant interaction was observed between the presence of the rs3749474 polymorphism and the evening carbohydrate intake (% of the total daily energy intake [%TEI]) (adjusted p = 0.046), when predicting the BMI. Participants carrying TT/CT genotype showed a positive association between the evening carbohydrate intake (%TEI) and BMI (ß = 0.3379, 95% CI = (0.1689,0.5080)) and (ß = 0.1529, 95% CI = (-0.0164,0.3227)), respectively, whereas the wild type allele (CC) showed a negative association (ß = -0.0321, 95% CI = (-0.1505,0.0862)). No significant interaction with the remaining model variables was identified. New dietary strategies may be implemented to schedule the circadian distribution of macronutrients according to the genotype. Clinical Trial number: NCT04067921.

The Potential Impact of Social Genomics on Wound Healing.

Significance: Human skin wounds carry an immense epidemiologic and financial burden, and their impact will continue to grow with an aging population and rising incidence of comorbid conditions known to affect wound healing. To comprehensively address this growing clinical issue, physicians should also be aware of how conditions of the human social environment may affect wound healing. Here we provide a review of the emerging field of social genomics and its potential impact on the wound healing. Recent Advances: Multiple studies using human and animal models have correlated social influences and their contributing effects to acute and chronic stress with delays in wound healing. Furthermore, observations between nongenetic factors such as nutrition, socioeconomic, and educational status have also shown to have a direct or indirect impact on clinical outcomes of wound healing. Critical Issues: Nutrition, financial burden, socioeconomic and education status, and acute and chronic stress are variables that have either direct (epigenetic) or indirect impact on wound healing and patients' quality of life. Wound care is costly and remains a challenge placing economic burden on patients. Furthermore, poor clinical outcomes and complications including loss of mobility and disability may lead to job loss, further contributing to socioeconomic related stress. Thus, the economic burden and inadequate wound healing are intertwined, making each other worse. Future Directions: Although some evidence regarding the specific changes in genetic pathways imparted by conditions of the social environment exists, further studies are warranted to identify potential mechanisms, interventions, and prevention approaches.

Nutrigenetics and nutrigenomics: ready for clinical use or still a way to go?

Nutritional Genomics or nutrigenetics/nutrigenomics is an emerging area of research aiming to delineate the interplay between nutrients intake and the reciprocal pathologies with the human genome. Coupled with other omics disciplines, such as metabolomics, proteomics and transcriptomics, nutrigenomics aspires to individualize nutrition, reminiscent of pharmacogenomics and the individualization of drug use. Here, we provide an overview of a session focused on nutrigenomics, organized in conjunction with the Panhellenic Bioscientists Association during the First Greek National Personalised Medicine Conference in Athens, Greece on 15 December 2019.

Epigenetic variations due to nutritional status in early-life and its later impact on aging and disease.

Epigenetics refers to changes in gene function, not resulting from the primary DNA sequence, influenced by the environment. It provides a link between the molecular regulation of the genome and the environmental signals exposed during the life of individuals (including lifestyle, social behavior, development, and nutrition). Notably, early development (intrauterine or postnatal) is highly influenced by the adverse socioeconomic status that leads to malnutrition or obesity; these conditions induce changes over the fetal epigenetic programming and can be transferred by transgenerational inheritance, inducing alterations of the transcription of genes related to several metabolic and neurological processes. Moreover, obesity during pregnancy, and excessive gestational weight gain are associated with an increased risk of fatal pregnancy complications, and adverse cardio-metabolic, respiratory and cognitive-related outcomes of the future child. However, most of our knowledge in this field comes from experimental animal models, that partially resemble the nutritional effects of humans. In this context, nutritional effects implicated in historical famines represent valuable information about the transgenerational effects of undernutrition and stress. In the present review, we attempt to describe the most outstanding results from the most studied famines about the impact of malnutrition on the epigenome.

Iron Status and Cancer Risk in UK Biobank: A Two-Sample Mendelian Randomization Study.

We conducted a two-sample Mendelian randomization study to explore the associations of iron status with overall cancer and 22 site-specific cancers. Single-nucleotide polymorphisms for iron status were obtained from a genome-wide association study of 48,972 European-descent individuals. Summary-level data for breast and other cancers were obtained from the Breast Cancer Association Consortium and UK Biobank. Genetically predicted iron status was positively associated with liver cancer and inversely associated with brain cancer but not associated with overall cancer or the other 20 studied cancer sites at p < 0.05. The odds ratios of liver cancer were 2.45 (95% CI, 0.81, 7.45; p = 0.11), 2.11 (1.16, 3.83; p = 0.02), 10.89 (2.44, 48.59; p = 0.002) and 0.30 (0.17, 0.53; p = 2 × 10-5) for one standard deviation increment of serum iron, transferrin saturation, ferritin and transferrin levels, respectively. For brain cancer, the corresponding odds ratios were 0.69 (0.48, 1.00; p = 0.05), 0.75 (0.59, 0.97; p = 0.03), 0.41 (0.20, 0.88; p = 0.02) and 1.49 (1.04, 2.14; p = 0.03). Genetically high iron status was positively associated with liver cancer and inversely associated with brain cancer.

Expression Patterns of Muscle-Specific miR-133b and miR-206 Correlate with Nutritional Status and Sarcopenia.

Sarcopenia and malnutrition are commonly occurring conditions in the elderly that frequently coexist, leading to substantial effects on morbidity/mortality. Evidence established muscle-specific microRNAs (miRNAs) or myomiRs as essential regulators of skeletal muscle processes, from myogenesis to muscle homeostasis. This study aimed to evaluate the association between myomiRs and sarcopenia and explore the potential of nutrition in mediating this association. qPCR was employed to characterize the myomiR-1, -133a/b, -206, -208b, and -499 expression profiles of 109 non-sarcopenic and 109 sarcopenic subjects. In our sample, the proportion malnourished or at-risk subjects was higher in sarcopenia (p < 0.001). Among the detected myomiRs (miR-133a/b and miR-206), lower levels of miR-133b was significantly associated with the presence of sarcopenia (p = 0.006); however, this relationship was not independent from nutritional status in multivariate analysis, suggesting a mediating effect of nutrition on the relationship between miR-133b and sarcopenia. Correlation analyses showed that lower miR-133b levels were associated with poor nutritional status (Mini Nutritional Assessment Long Form (MNA-LF) score, p = 0.005); furthermore, correlations with albumin, ferritin, and iron were found. Similar results were obtained for miR-206. Statistically more significant correlations were observed in subjects with sarcopenia. In conclusion, our findings highlight a nutrient-miR-133b/miR-206 pathway having a potential role in the age-related muscle decline.

Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation.

OBJECTIVE: The aim of this study was to evaluate the effect of an individually tailored dietary intervention on personalized goals, body composition (BC), functioning, and quality of life (QoL) in adult patients with mitochondrial disease (MD) due to the m.3243 A>G mutation. METHODS: This explorative randomized controlled trial included 39 patients with MD. The intervention group (n = 20) received an individually tailored dietary intervention over a 6-mo period. The control group (n = 19) received standard care over a 6-mo timeframe (control period), followed by an individually tailored dietary intervention for the next 6 mo (intervention period). Nutritional assessment and QoL measurements were performed at 3-mo intervals. Personalized treatment goals of the patients with MD were evaluated at 3 and 6 mo during the dietary intervention. Achievement of the personalized goals was assessed using descriptive statistics and mixed models. Linear mixed models were used to test the effect of the dietary intervention on continuous outcomes. RESULTS: The personal goals of patients were significantly more frequently achieved in the intervention group than in the control group. After 3 mo of intervention, 57% of the goals were achieved. Most goals were achieved for BC, handgrip strength (HGS), and gastrointestinal complaints. Intervention increased HGS (P = 0.037), the vitality component of QoL (P = 0.026), and decreased the fatigue score (P = 0.024) after 3 mo of treatment. Effects did not seem to last after 3 mo, however. CONCLUSION: An individually tailored dietary intervention is promising to achieve personalized goals of patients with MD, especially with regard to BC, HGS, and gastrointestinal complaints. The intervention also improves QoL, and decreases fatigue.