Sentences with phrase «gene polymorphism in»

We conducted a two - center hospital - based case - control study with a total of 374 cases and 812 controls to assess the role of five LMO1 gene polymorphisms in the neuroblastoma risk.

Phenotype studies of the DRD4 gene polymorphisms in ADHD: association with oppositional defiant disorder and positive family history

Not exact matches

Second, new polymorphisms that arose in one group were less likely to be transmitted to other groups as gene flow was restricted.

Moderate level fetal alcohol exposure and serotonin transporter gene promoter polymorphism affect neonatal temperament and limbic - hypothalamic - pituitary - adrenal axis regulation in monkeys.

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.

Identification of novel polymorphisms in the glucokinase and glucose -6-phosphatase genes in infants who died suddenly and unexpectedly

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.

Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.

Predisposition to vascular disease was my focus here, using genetic epidemiological studies to identify novel polymorphisms in a range of candidate genes.

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.

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

A polymorphism (rs1051730) in proximity to the cholinergic receptor, nicotinic, alpha 3 (CHRNA3) gene is associated with higher tobacco consumption among smokers and can therefore be used as a genetic proxy for high tobacco consumption.

A team at Virginia Commonwealth University in Richmond recently found that three genetic polymorphisms — variants in the «spelling» of a certain gene — are connected to nicotine addiction.

Results from a statistical analysis shows a cluster of SNPs — single nucleotide polymorphisms — in one section of a single gene, indicating the location of a mutation likely linked to autism.

The classic case of polymorphism is the gene for the different blood groups in humans.

«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 team found that a single polymorphism (a difference in one «letter» of the sequence) in the BDNF gene accounted for significant differences in intelligence among those with similar injuries and comparable intelligence before being injured.

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.

Although the biological mechanisms through which this polymorphism could affect aging are not known, it is adjacent to two genes called CDKN2A and CDKN2B, which play an important role in cell cycle regulation.

They also identified SNPs (single nucleotide polymorphisms, or alterations to the genetic code created by the addition or deletion of a single nucleotide in a gene's long chain).

This study further investigated the impact of nicotine use / smoking status and variation in the mu opioid receptor gene (OPRM1), specifically, an A118G single nucleotide polymorphism (SNP, or DNA sequence variation), on the effects of naltrexone on a range of drinking outcomes.

Hill showed a single - nucleotide polymorphism — placed in the genome where a single nucleotide is altered — in this gene is «strongly associated» with elite sprint racing performance.

«These findings suggest that GCLM polymorphisms [gene variants] that affect glutathione production also affect methylmercury retention,» she wrote to me in an e-mail, «and that GSTP1 may play a role in conjugating [chemically joining] methylmercury with glutathione.»

Goldstein and co-workers unearthed two polymorphisms in genes that explain 15 % of the variation seen in viral set points.

The team identified 15 new genetic CAD associations, via SNPs — or single - nucleotide polymorphisms, places in genes in which the DNA building blocks differ from person to person by only one block, or nucleotide.

High blood pressure, for instance, has been linked to a polymorphism in the angiotensinogen gene that increases a person's sensitivity to salt.

Professor Haase also studies the relevance of genetic polymorphisms of DNA - repair and detoxification genes for AML and MDS, the relevance of iron overload for stem cell functions in MDS, and the establishment of FISH analysis of CD34 + cells from the peripheral blood as a diagnostic tool for screening and monitoring in patients with MDS.

Studies of worms and fruit flies show that variations, or polymorphisms, in a single gene can affect how long these creatures live.

In 2003, Nir Barzilai and Gil Atzmon, who study aging at Albert Einstein College of Medicine in New York, discovered that people with a certain polymorphism of the cholesterol - influencing gene CETP lived longer than those without it (ScienceNOW, October 2003In 2003, Nir Barzilai and Gil Atzmon, who study aging at Albert Einstein College of Medicine in New York, discovered that people with a certain polymorphism of the cholesterol - influencing gene CETP lived longer than those without it (ScienceNOW, October 2003in New York, discovered that people with a certain polymorphism of the cholesterol - influencing gene CETP lived longer than those without it (ScienceNOW, October 2003).

Objective To identify common genetic markers that may confer differential benefit from aspirin or NSAID chemoprevention, we tested gene × environment interactions between regular use of aspirin and / or NSAIDs and single - nucleotide polymorphisms (SNPs) in relation to risk of colorectal cancer.

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.

The results also showed that polymorphism, a genetic variant that can change the way a particular gene functions, is possible under a wide range of conditions, which results in a single population playing a variety of different behavioral games.

A scan for human - specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes.

Comparative analysis of length polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4) in Cercopithecidae [abstract].

A scan for human - specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes Somel, M., M. A. W. Sayres, G. Jordan, E. Huerta - Sanchez et al. 2013.

A single nucleotide polymorphism (SNP) in the ARID5B gene has been identified as a risk factor in the most common form of childhood leukaemia

«We found associations between certain gene polymorphisms and delayed fracture healing in a sample of patients,» said J. Spence Reid, professor of orthopaedics and rehabilitation.

Do combinatorial human mutations / polymorphisms in cardiac developmental genes cause predisposition to disease?

Illmer, T., Schuler, U. S, Thiede, C., Schwarz, U. I., Kim, R. B, Gotthard S., Freund, D., Schakel, U., Ehninger, G. and Schaich, M. MDR1 gene polymorphisms affect therapy outcome in acute myeloid leukemia patients.

Cam, F.S. et al. «Association between the ACE I / D gene polymorphism and physical performance in a homogenous non-elite cohort.»

I am interested in understanding how genetic polymorphisms in genes encoding PTPs can mediate disease pathogenesis, and in defining new drug targets for immune - mediated diseases among the PTPome.

In each case they checked tiny sites of known DNA - sequence variations — «single nucleotide polymorphisms» — that mark common gene variants.

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.

The impact of common dopamine D2 receptor gene polymorphisms on D2 / 3 receptor availability: C957T as a key determinant in putamen and ventral striatum.

For the 374 expressed genes, we find many regions with statistically significant association of single nucleotide polymorphisms (SNPs) with expression variation in lymphoblastoid cell lines after correcting for multiple tests.

Sequence polymorphisms in this gene between susceptible and resistant strains were identified that may account for the difference in phenotype.