Sentences with phrase «d gene polymorphism»
Cam, F.S. et al. «Association between the ACE I / D gene polymorphism and physical performance in a homogenous non-elite cohort.»
https://science.howstuffworks.com/ Not exact matches
There have also been a number of reports of polymorphisms or mutations in genes that regulate inflammation, 48,49 energy production, 50, — , 52 and hypoglycemia53 in infants who died from SIDS, but these associations require more study to determine their importance.
It has been estimated that 5 % to 10 % of infants who die from SIDS have novel mutations in the cardiac sodium or potassium channel genes that result in long QT syndrome as well as in other genes that regulate channel function.44 A recent report described important new molecular and functional evidence that implicates specific SCN5A (sodium channel gene) β subunits in SIDS pathogenesis.47 The identification of polymorphisms in genes pertinent to the embryologic origin of the autonomic nervous system in SIDS cases also lends support to the hypothesis that a genetic predisposition contributes to the etiology of SIDS.
Genetic variation can take the form of common base changes (polymorphisms) that alter gene function or rare base changes (mutations) that often have highly deleterious effects.
Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.
After gene - typing about 3,000 people, Sturm found that how OCA2 is expressed — and how much pigment a person has — is strongly linked to three single nucleotide polymorphisms (SNPs), or single letter variations, in a DNA sequence near the OCA2 gene.
«What we found is that if people have a specific polymorphism in the BDNF gene, they recovered to a greater extent than those with a different variant of the gene.»
With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.
The genomics era has had a profound impact on life science research, leading to significant developments such as the use of expression quantitative trait loci (eQTLs), which link polymorphisms in single genes to quantifiable changes in gene expression associated with specific diseases.
A study of the interplay between peer drinking and the functional polymorphism rs1229984 in the alcohol dehydrogenase 1B gene (ADH1B) in the development of adolescent drinking milestones has found that peer drinking reduces the protective effects of an ADH1B variant.
A functional polymorphism in the promoter region of the human serotonin transporter gene (SLC6A4) has been associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent.
High blood pressure, for instance, has been linked to a polymorphism in the angiotensinogen gene that increases a person's sensitivity to salt.
Previous genetic studies have examined the association of aspirin, NSAIDs, or both with colorectal cancer according to a limited number of candidate genes or pathways.6 - 10 Thus, to comprehensively identify common genetic markers that characterize individuals who may obtain differential benefit from aspirin and NSAIDs, we conducted a discovery - based, genome - wide analysis of gene × environment interactions between regular use of aspirin, NSAIDs, or both and single - nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer.
For example, centenarians not only have retarded biological ages, they're also more likely to carry specific gene variations (called single nucleotide polymorphisms, or SNPs) that protect against disease.
A single nucleotide polymorphism (SNP) in the ARID5B gene has been identified as a risk factor in the most common form of childhood leukaemia
The alliance will employ Illumina's platform for high - multiplex single - nucleotide polymorphism (SNP) genotyping to develop tests for gene variants deCODE has previously shown to have impact on the risk of a growing number of common diseases with major public health impact.
Furthermore, sex - specific differences in gene polymorphism are suggested by one study showing that diabetic women carrying ACE D allele have a higher risk for development of diabetic nephropathy, which was not seen in diabetic men (Table 2)(331).
Dr. Rotimi's lab has shown that a polymorphism in the endothelial nitric oxide gene is associated with diabetic retinopathy in Africans.
In addition to these changes, multiple minor, naturally occurring genetic variants, also known as polymorphisms, have been described in the p53 gene.
PULLMAN — Researchers at Washington State University have identified a new class of DNA sequence variation in gene promoter regions that could help control the activity of genes.The novel variations, dubbed «multiple nucleotide length polymorphisms,» or MNLPs, altered transcription of the genes they were associated with as much as 11-fold.
It has been suggested that a high serum cholesterol level is a risk factor for (AD), and that some polymorphisms of genes encoding proteins regulating cholesterol metabolism are associated with AD development.
«Here we see that the same IL - 21B gene polymorphisms seem to influence the response to influenza virus vaccination, at least in a population of transplant patients who, because of their transplant status, have to receive immunosuppressing drugs.
Vitamin D receptor gene polymorphisms, serum 25 - hydroxyvitamin D levels, and melanoma: UK case - control comparisons and a meta - analysis of published VDR data.
The 48 - letter polymorphism has been the focus of virtually all ADHD association studies in recent years, and those results are the reason DRD4 is generally considered to be a susceptibility gene for ADHD.
As they pointed out, the repeat occurs in a region of DRD4 associated with gene activity, so the 120/240 polymorphism may have a functional effect on the dopamine receptor.
One suggestion that has generated considerable interest is the possibility that the risk polymorphisms located far from genes could function as gene regulatory elements or «switches» that regulate the expression of genes.
In contrast, variants in the MTHFR gene have been associated with increased risk of neural tube defects and cardiovascular disease; however, 60 - 70 % of individuals in the general population have one of the two most common MTHFR gene polymorphisms.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
Despite this, polymorphisms in HLA genes have been shown repeatedly to be associated with susceptibility to malaria, or subcategories of the disease.
Polymorphisms in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the QT study.
Such environments may be more similar to the environments where much of human genetic evolution took place; indeed, they may be adaptively relevant environments [AREs; [13]-RSB- for the evolution of dopamine gene polymorphisms that have been primarily investigated in industrialized settings.
No significant difference in the distribution of the investigated HNMT alleles could be shown between patients with gastrointestinal diseases and control subjects (45, 47), but a functional relevant polymorphism of the HNMT gene (chromosome 2q22) has been described for white asthma patients (48).
Although the newest edition of the authoritative textbook, Vitamin D, claims that in humans calcidiol binds with equal affinity to the DBP whether it is derived from vitamin D2 or vitamin D3, 37 the citation for this statement is the author's own PhD thesis, in which he reported results obtained from testing the DBP of a mere two people.48 Since the gene for the DBP is one of the most polymorphic known (meaning it exists in many forms), existing in three common alleles and 124 known rarer alleles (alleles are specific forms of the same gene), each allele itself having many polymorphisms, 37 a sample size of two is rather unconvincing.
The human DAO gene spans ≈ 10 kbp and is located on chromosome 7q35 (27) Various single - nucleotide polymorphisms (SNPs) in the DAO gene have been shown to be associated with inflammatory and neoplastic gastrointestinal diseases, such as food allergy (44), gluten - sensitive enteropathy, Crohn disease, ulcerative colitis, and colon adenoma (45 — 47).
Her thesis, The MTHFR Polymorphism supported her premise that «women who are trying to get pregnant and have the MTHFR C677T gene mutation should supplement with L - methyltetrahydrofolate instead of folic acid» and is a reflection of her interest.
We can use the naturally occurring polymorphisms as markers for the portion of DNA they occur in, in this case the Candidate Gene we have selected.
The study suggests that oxytocin receptor gene polymorphisms have an impact on proximity to unfamiliar humans and on how friendly the dogs were toward the human.
A misconception that the Phosducin (PDC) gene is associated with Type A PRA has caused at least one laboratory to incorrectly identify a benign DNA sequence change (termed a «polymorphism») in the Phosducin gene as the Type A PRA mutation.
Even though significant gene × gene interactions have not been extended to an antisocial behavioral phenotype, a number of lines of research converge to show that dopaminergic polymorphisms have independent effects on a wide array of maladaptive and antisocial phenotypes, such as compulsive gambling, alcohol consumption, and antisocial personality traits [3, 17 — 19].
Allele association studies have linked the 48 bp repeat polymorphism of the DRD4 gene with normal variations of neonatal, infant, and adult temperament [85], but also with clinical hyperactivity (ADHD)[93, 94].
In relation to the association of infant attachment with a promoter polymorphism of the serotonin transporter gene, we have mentioned that gene expression may be affected by variation in the DNA sequence of the regulatory region of the gene.
Adults who had been categorized as behaviorally inhibited at the age of 2 years exhibited a higher amygdala activation in response to unknown vs familiar faces16 compared with adults who were uninhibited as children, consistent with the notion that novel or ambiguous environmental stimuli of potential biological relevance activate the amygdala.17 Turning to genes that can influence the neurobiological bases of the processing of emotions, 2 common alleles, the short (S) and the long (L), in a variable repeat sequence of the serotonin transporter (5 - HTT) promoter polymorphism (5 - HTTLPR) on human chromosome 17q11 have been differently associated with greater amygdala activity in response to angry or fearful faces18 in healthy adults.
Studies demonstrating this greater susceptibility of neurobiologically responsive children to both positive and negative aspects of their environments have implicated a wide variety of stressors and adversities, including paternal depression (67), marital conflict (68, 69), parental psychopathology (70), and overall family distress (71); of positive environmental features, including parental warmth (72) and supportive interventions (73); and of defining biological parameters, including physiological reactivity (e.g., 74, 75), differences in brain circuitry (76), and gene polymorphisms (77, 78).
More recently, a common variable number tandem repeat (VNTR) polymorphism lying 1.2 kb upstream of the transcription initiation site of MAOA has been shown to affect transcriptional activity of the gene in transfected cells.
Previous research has reported that a functional polymorphism in the monoamine oxidase A (MAOA) gene promoter can moderate the association between early life adversity and increased risk for violence and antisocial behavior.
Although research has shown that this polymorphism produces adverse outcomes under stressful contexts (i.e., a diathesis hypothesis), the same gene may also act more generally to enhance environmental sensitivity; thereby producing positive youth outcomes in positive contexts (i.e., genetic plasticity)(Simons and Lei 2013; Wickrama and O'Neal 2015).