scholarly journals Personalised nutrition: status and perspectives

2007 ◽  
Vol 98 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Hans-Georg Joost ◽  
Michael J. Gibney ◽  
Kevin D. Cashman ◽  
Ulf Görman ◽  
John E. Hesketh ◽  
...  
Keyword(s):  
Complex Disease ◽  
Single Gene ◽  
Biological Response ◽  
Scientific Basis ◽  
Convincing Evidence ◽  
Nutrition Status ◽  
Gene Variants ◽  
Nutritional Recommendations ◽  
Nutritional Advice ◽  
Acceptable Method

Personalised, genotype-based nutrition is a concept that links genotyping with specific nutritional advice in order to improve the prevention of nutrition-associated, chronic diseases. This review describes the current scientific basis of the concept and discusses its problems. There is convincing evidence that variant genes may indeed determine the biological response to nutrients. The effects of single-gene variants on risk or risk factor levels of a complex disease are, however, usually small and sometimes inconsistent. Thus, information on the effects of combinations of relevant gene variants appears to be required in order to improve the predictive precision of the genetic information. Furthermore, very few associations between genotype and response have been tested for causality in human intervention studies, and little is known about potential adverse effects of a genotype-derived intervention. These issues need to be addressed before genotyping can become an acceptable method to guide nutritional recommendations.

Complex Genetic Diseases

2016 ◽  
Author(s):  
Michael Snyder
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disease ◽  
Single Gene ◽  
Genetic Diseases ◽  
Gene Variants ◽  
Tay Sachs Disease ◽  
Causative Effect ◽  
Complex Genetic Diseases

What is a complex genetic disease? Although great strides have been made to identify single gene variants that have a strong causative effect for a particular disease (e.g., CFTR mutations for cystic fibrosis and HEXA mutations for Tay-Sachs disease), the...

scholarly journals High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH

2019 ◽  
Vol 104 (10) ◽  
pp. 4273-4281 ◽  
Author(s):  
Lukas Plachy ◽  
Veronika Strakova ◽  
Lenka Elblova ◽  
Barbora Obermannova ◽  
Stanislava Kolouskova ◽  
...  
Keyword(s):  
Short Stature ◽  
Growth Plate ◽  
Single Gene ◽  
Gene Variants ◽  
Genetic Etiology ◽  
Associated Proteins ◽  
Genetic Mechanisms ◽  
Standards And Guidelines ◽  
Minimum Height ◽  
Severe Short Stature

AbstractContextFamilial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes; more severe short stature is suggestive of a monogenic condition. The etiology of most FSS cases has not been thoroughly elucidated to date.ObjectivesTo identify the genetic etiology of severe FSS in children treated with GH because of the diagnosis of small for gestational age or GH deficiency (SGA/GHD).Design, Settings, and PatientsOf 736 children treated with GH because of GHD/SGA, 33 with severe FSS (life-minimum height −2.5 SD or less in both the patient and shorter parent) were included in the study. The genetic etiology was known in 5 of 33 children prior to the study [ACAN (in 2], NF1, PTPN11, and SOS1). In the remaining 28 of 33, whole-exome sequencing was performed. The results were evaluated using American College of Medical Genetics and Genomics standards and guidelines.ResultsIn 30 of 33 children (90%), we found at least one variant with potential clinical significance in genes known to affect growth. A genetic cause was elucidated in 17 of 33 (52%). Of these children, variants in growth plate-related genes were found in 9 of 17 [COL2A1, COL11A1, and ACAN (all in 2), FLNB, FGFR3, and IGF1R], and IGF-associated proteins were affected in 2 of 17 (IGFALS and HMGA2). In the remaining 6 of 17, the discovered genetic mechanisms were miscellaneous (TRHR, MBTPS2, GHSR, NF1, PTPN11, and SOS1).ConclusionsSingle-gene variants are frequent among families with severe FSS, with variants affecting the growth plate being the most prevalent.

scholarly journals “Touching Triton”:

2016 ◽  
Vol 78 (1) ◽  
pp. 15-21 ◽  
Author(s):  
Madelene Loftin ◽  
Kelly East ◽  
Adam Hott ◽  
Neil Lamb
Keyword(s):  
Student Performance ◽  
Complex Disease ◽  
Disease Risk ◽  
Single Gene ◽  
Mendelian Inheritance ◽  
Serious Game ◽  
Genetic Technologies ◽  
Genetic And Environmental Factors ◽  
High Level ◽  
Unrealistic Expectations

Life science classrooms often emphasize the exception to the rule when it comes to teaching genetics, focusing heavily on rare single-gene and Mendelian traits. By contrast, the vast majority of human traits and diseases are caused by more complicated interactions between genetic and environmental factors. Research indicates that students have a deterministic view of genetics, generalize Mendelian inheritance patterns to all traits, and have unrealistic expectations of genetic technologies. The challenge lies in how to help students analyze complex disease risk with a lack of curriculum materials. Providing open access to both content resources and an engaging storyline can be achieved using a “serious game” model. “Touching Triton” was developed as a serious game in which students are asked to analyze data from a medical record, family history, and genomic report in order to develop an overall lifetime risk estimate of six common, complex diseases. Evaluation of student performance shows significant learning gains in key content areas along with a high level of engagement.

Expressed genome molecular signatures of heart failure

2005 ◽  
Vol 43 (5) ◽  
Author(s):  
Choong Chin Liew
Keyword(s):  
Gene Expression ◽  
Heart Failure ◽  
Blood Cells ◽  
Complex Disease ◽  
Expression Profiles ◽  
Single Gene ◽  
Molecular Signatures ◽  
Microarray Gene Expression ◽  
Genomic Technologies ◽  
Gene Expression Studies

AbstractTraditional gene expression studies typically focus on one or a few genes of interest. An important limitation of single-gene studies is that they present a portrait of disease that is essentially static. However, disease is a dynamic process, driven by a combination of genetic, epigenetic and environmental factors. Recently, genomic technologies have permitted better characterization of the dynamic aspect of disease progression. Genome-wide expression profiles of cardiovascular diseases, heart failure in particular, using microarrays have been published and are providing new insights into this complex disease. Tissue biopsies required for traditional microarray studies, however, are often invasive and not readily available. By contrast, blood samples are relatively non-invasive and are readily available. In a number of recent studies, blood cells appear to be a viable substitute for tissue biopsy. Blood cells have the ability to mirror the body's tissues and organs in health and disease; thus, we hypothesize that blood cells can indicate at the molecular level the presence of disease. Here we review microarray gene expression profiling of blood RNA for a number of different diseases. Sieving through gene expression molecular signatures has identified groups of genes characteristic of each and has identified biomarkers associated with specific diseases.

scholarly journals Mannose-Binding Lectin Promoter Polymorphisms and Gene Variants in Pulmonary Tuberculosis Patients from Cantabria (Northern Spain)

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
J.-Gonzalo Ocejo-Vinyals ◽  
Lucía Lavín-Alconero ◽  
Pablo Sánchez-Velasco ◽  
M.-Ángeles Guerrero-Alonso ◽  
Fernando Ausín ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Convincing Evidence ◽  
Mannose Binding Lectin ◽  
Gene Variants ◽  
Northern Spain ◽  
Promoter Polymorphisms ◽  
Increased Risk ◽  
Mannose Binding ◽  
Lectin Promoter ◽  
Binding Lectin

Mannose-binding lectin is a central molecule of the innate immune system. Mannose-binding lectin 2 promoter polymorphisms and structural variants have been associated with susceptibility to tuberculosis. However, contradictory results among different populations have been reported, resulting in no convincing evidence of association between mannose-binding lectin 2 and susceptibility to tuberculosis. For this reason, we conducted a study in a well genetically conserved Spanish population in order to shed light on this controversial association. We analysed the six promoter and structural mannose-binding lectin 2 gene variants in 107 patients with pulmonary tuberculosis and 441 healthy controls. Only D variant and HYPD haplotype were significantly more frequents in controls which would indicate that this allele could confer protection against pulmonary tuberculosis, but this difference disappeared after statistical correction. Neither the rest of alleles nor the haplotypes were significantly associated with the disease. These results would indicate that mannose-binding lectin promoter polymorphisms and gene variants would not be associated with an increased risk to pulmonary tuberculosis. Despite the slight trend of the D allele and HYPD haplotype in conferring protection against pulmonary tuberculosis, susceptibility to this disease would probably be due to other genetic factors, at least in our population.

scholarly journals The Role of Dietary Carbohydrates in Gestational Diabetes

Nutrients ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 385 ◽  
Author(s):  
Vikkie A. Mustad ◽  
Dieu T.T. Huynh ◽  
José M. López-Pedrosa ◽  
Cristina Campoy ◽  
Ricardo Rueda
Keyword(s):  
Gestational Diabetes ◽  
Complex Disease ◽  
Patient Adherence ◽  
Bowel Function ◽  
Nutritional Composition ◽  
Dietary Recommendations ◽  
Glucose Levels ◽  
Nutritional Recommendations ◽  
Wide Range ◽  
Continuous Glucose Monitors

Gestational diabetes (GDM) is hyperglycemia that is recognized for the first time during pregnancy. GDM is associated with a wide range of short- and long-term adverse health consequences for both mother and offspring. It is a complex disease with a multifactorial etiology, with disturbances in glucose, lipid, inflammation and gut microbiota. Consequently, its management is complex, requiring patients to self-manage their diet, lifestyle and self-care behaviors in combination with use of insulin. In addition to nutritional recommendations for all pregnant women, special attention to dietary carbohydrate (CHO) amount and type on glucose levels is especially important in GDM. Dietary CHO are diverse, ranging from simple sugars to longer-chain oligo- and poly- saccharides which have diverse effects on blood glucose, microbial fermentation and bowel function. Studies have established that dietary CHO amount and type can impact maternal glucose and nutritional recommendations advise women with GDM to limit total intake or choose complex and low glycemic CHO. However, robust maternal and infant benefits are not consistently shown. Novel approaches which help women with GDM adhere to dietary recommendations such as diabetes-specific meal replacements (which provide a defined and complete nutritional composition with slowly-digested CHO) and continuous glucose monitors (which provide unlimited monitoring of maternal glycemic fluctuations) have shown benefits on both maternal and neonatal outcomes. Continued research is needed to understand and develop tools to facilitate patient adherence to treatment goals, individualize interventions and improve outcomes.

scholarly journals Exploring complex disease gene relationships using simultaneous analysis

2014 ◽  
Author(s):  
Joseph D Romano ◽  
William G Tharp ◽  
Indra N Sarkar
Keyword(s):  
Alzheimer Disease ◽  
Phylogenetic Trees ◽  
Complex Disease ◽  
Disease Gene ◽  
Sequence Similarity ◽  
Single Gene ◽  
Genomic Data ◽  
Complex Diseases ◽  
Genetic Network ◽  
Automated Method

The characterization of complex diseases remains a great challenge for biomedical researchers due to the myriad interactions of genetic and environmental factors. Adaptation of phylogenomic techniques to increasingly available genomic data provides an evolutionary perspective that may elucidate important unknown features of complex diseases. Here an automated method is presented that leverages publicly available genomic data and phylogenomic techniques. The approach is tested with nine genes implicated in the development of Alzheimer Disease, a complex neurodegenerative syndrome. The developed technique, implemented through a suite of Ruby scripts entitled “ASAP2,” first compiles a list of sequence-similarity based orthologues using PSI-BLAST and a recursive NCBI BLAST+ search strategy, then constructs maximum parsimony phylogenetic trees for each set of nucleotide and protein sequences, and calculates phylogenetic metrics (partitioned Bremer support values, combined branch scores, and Robinson-Foulds distance) to provide an empirical assessment of evolutionary conservation within a given genetic network. This study demonstrates the potential for using automated simultaneous phylogenetic analysis to uncover previously unknown relationships among disease-associated genes that may not have been apparent using traditional, single-gene methods. Furthermore, the results provide the first integrated evolutionary history of an Alzheimer Disease gene network and identify potentially important co-evolutionary clustering around components of oxidative stress pathways.

Prevalence and spectrum of single-gene CNVs in patients with intellectual disability

2021 ◽  
pp. 44-46
Author(s):  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
Е.О. Беляева ◽  
Д.А. Федотов ◽  
Г.В. Дроздов ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Intellectual Disabilities ◽  
Real Time ◽  
Developmental Delay ◽  
Real Time Pcr ◽  
Single Gene ◽  
Gene Variants

Моногенные вариации числа копий участков ДНК (CNV) зарегистрированы с частотой 4,4% среди пациентов с интеллектуальными нарушениями и задержкой развития и охарактеризованы по таким критериям как тип (делеция/дупликация), локализация, происхождение. Показано, что не все моногенные варианты, выявленные микроматричным анализом, можно подтвердить методом ПЦР в реальном времени. Single-gene CNVs were observed in 4.4% of patients with intellectual disabilities and developmental delay and were characterized by such criteria as type (deletion/duplication), localization, and origin. It has been shown that not all single-gene variants identified by aCGH can be confirmed by real-time PCR.

THE CAT, THE FLY AND THE BEETLE — WHY GENETICS NEEDS A SEMANTIC EDUCATION

2009 ◽  
Vol 03 (01) ◽  
pp. 77-90
Author(s):  
SANDOSH PADMANABHAN ◽  
CLAIRE HASTIE ◽  
CHRISTOPHER A. SAINSBURY ◽  
MARTIN W. MCBRIDE ◽  
JOHN M. CONNELL ◽  
...  
Keyword(s):  
Public Health ◽  
Plant Breeding ◽  
Genetic Basis ◽  
Complex Disease ◽  
Single Gene ◽  
Current Understanding ◽  
The Public ◽  
Monogenic Disorders ◽  
Disease Causation ◽  
Made In

Major advances have been made in the understanding of the genetic basis of diseases since Mendel's publication of the results of plant breeding experiments in 1866. To date these advances have been largely confined to the monogenic disorders — caused by mutations in a single gene. The public-health implications of these advances is relatively limited. In this review we explore our current understanding of the genetic basis of human traits and the reasons why current theories may account for the difficulties in identifying the genes for common diseases. We then postulate that semantic computing may be rightly poised to help understand complex disease causation, and explore the efforts that have been made to date to develop the necessary technological approach to the problem.

scholarly journals A Review of Nutritional Requirements of Adults Aged ≥65 Years in the UK

2020 ◽  
Vol 150 (9) ◽  
pp. 2245-2256 ◽  
Author(s):  
Nicole Dorrington ◽  
Rosalind Fallaize ◽  
Ditte A Hobbs ◽  
Michelle Weech ◽  
Julie A Lovegrove
Keyword(s):  
Older Adults ◽  
Healthy Aging ◽  
Functional Decline ◽  
Later Life ◽  
Nutritional Recommendations ◽  
Nutritional Guidance ◽  
Dietary Choices ◽  
Nutritional Advice ◽  
Vitamin B 12 ◽  
The Uk

ABSTRACT Appropriate dietary choices in later life may reduce the risk of chronic diseases and rate of functional decline, however, there is little well-evidenced age-specific nutritional guidance in the UK for older adults, making it challenging to provide nutritional advice. Therefore, the aim of this critical review was to propose evidence-based nutritional recommendations for older adults (aged ≥65 y). Nutrients with important physiological functions in older adults were selected for inclusion in the recommendations. For these nutrients: 1) recommendations from the UK Scientific Advisory Committee for Nutrition (SACN) reports were reviewed and guidance retained if recent and age-specific, and 2) a literature search conducted where SACN guidance was not sufficient to set or confirm recommendations for older adults, searching Web of Science up to March 2020. Data extracted from a total of 190 selected publications provided evidence to support age-specific UK recommendations for protein (1.2 g·kg−1·d−1), calcium (1000 mg·d−1), folate (400 μg·d−1), vitamin B-12 (2.4 μg·d−1), and fluid (1.6 L·d−1 women, 2.0 L·d−1 men) for those ≥65 y. UK recommendations for carbohydrates, free sugars, dietary fiber, dietary fat and fatty acids, sodium, and alcohol for the general population are likely appropriate for older adults. Insufficient evidence was identified to confirm or change recommendations for all other selected nutrients. In general, significant gaps in current nutritional research among older adults existed, which should be addressed to support delivery of tailored nutritional guidance to this age group to promote healthy aging.

Sign in / Sign up

Export Citation Format

Share Document