Sentences with phrase «polymorphisms associated»

Exome sequencing - driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Preliminary evidence of FABP2 A54T polymorphism associated with reduced risk of type 2 diabetes and obesity in women from a German cohort

Not exact matches

CONCLUSIONS: The common polymorphisms in MTHFR are not associated with embryo quality or with short - term pregnancy outcomes.

Analyses were used to assess whether these polymorphisms are associated with embryo quality or with ongoing pregnancy or miscarriage rates.

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.

«We hypothesized that changes in the environment and lifestyle reassign functional significance of existing polymorphisms, turning some of them into risk - associated and others into disease protective,» Gorlov said.

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.

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.

If the polymorphisms in all the peptide sequences are consistent with those of a suspect, then that suspect can be associated with the evidence.

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.

To identify new genetic variations associated with different SLE phenotypes, a total of 598,258 different regions on the genome (known as single - nucleotide polymorphisms) were genotyped in a population of 482 Caucasian European SLE patients of Spanish origin recruited from the rheumatology departments of 15 Spanish university hospitals belonging to the IMID Consortium (SLE group).

In order to find out whether this polymorphism is also associated with extreme longevity, Spanish researchers performed an analysis of the frequencies of this polymorphism among centenarians and healthy adults in two independent cohorts, by geographical regions and by ethnic groups.

To reduce false positives when identifying genetic variations associated with human disease through genome - wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics on October 2, 2014.

Their analysis identified new «extreme longevity - promoting variants» on chromosomes 4 and 7, while also confirming variants (SNPs, or single nucleotide polymorphisms) previously associated with longevity.

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.

The teams then scanned their respective databases for single - nucleotide polymorphisms — regions where the DNA differs by one base — that were associated with being either taller or shorter than average.

The study also tested whether 3 single - nucleotide polymorphism multilocus genotype responsiveness patterns or insulin secretion (INS - 30; blood concentration of insulin 30 minutes after a glucose challenge) were associated with weight loss.

Polymorphisms observed in the consensus sequences of all individuals were cross-referenced with the MITOMAP database (http://www.mitomap.org/MITOMAP) of reported disease - associated mutations to determine whether any individuals harbored disease - causing mtDNA SNPs.

We investigated whether haplogroup, single nucleotide polymorphisms (SNPs), or heteroplasmy of mitochondrial DNA (mtDNA) were associated with health status and / or symptoms.

Lactase persistence in Europeans is strongly associated with well - described genetic polymorphisms that confer the production of the lactose - digesting enzyme lactase into adulthood.

She started her scientific career as an undergraduate and then PhD fellow at the Pasteur Institute, Paris, France, uncovering the molecular basis of IFN - induced OAS proteins in mediating resistance to West Nile virus infection and characterizing the molecular mechanism of action of DC - SIGN surface lectin polymorphisms that associate with severe Dengue hemorrhagic fever.

Dr. Parsons has provided similar insights into the mechanisms through which endocannabinoids modulate the rewarding effects of opiates, alcohol, and cocaine, and he is presently extending his evaluations of this stage of the addiction cycle to include animal models of commonly occurring genetic polymorphisms that are associated with problematic drug use and dependence in humans.

• Pharmacogenetics The unit offers population screening for a number of validated polymorphisms with pharmacogenetic implications, associated with positive or negative responses to therapeutic agents.

This polymorphism was reported to be significantly associated with neuroblastoma susceptibility.

The novel variations, dubbed «multiple nucleotide length polymorphisms,» or MNLPs, altered transcription of the genes they were associated with as much as 11-fold.

Polymorphisms of the scavenger receptor class B member 1 are associated with insulin resistance with evidence of gene by sex interaction

Genetic variations of IL6 are associated with rheumatoid arthritis systemic juvenile (RASJ), and its promoter polymorphism can be an indicator for Kaposi sarcoma development in HIV - infected men (4 - 5).

Dr. Rotimi's lab has shown that a polymorphism in the endothelial nitric oxide gene is associated with diabetic retinopathy in Africans.

Pro12Ala polymorphism in the peroxisome proliferator - activated receptor - γ2 (PPARγ2) is associated with higher levels of total cholesterol and LDL - cholesterol in male caucasian type 2 diabetes patients

Furthermore, another polymorphism in women was found to be associated with elevated first - phase insulin secretion (193).

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.

Leu7Pro polymorphism in the neuropeptide Y (NPY) gene is associated with impaired glucose tolerance and type 2 diabetes in Swedish men

In the Diabetes Prevention Program, SHBG and SHBG - single nucleotide polymorphisms did not predict incident diabetes in any sex, but diabetes incidence was directly associated with estradiol and estron and inversely with testosterone in men (62).

«The IL - 28B first came to the attention of virologists when it was shown that polymorphisms, small genetic changes, in this gene were associated with different hepatitis C virus treatment outcomes.

Susceptibility to tuberculosis is associated with TLR1 polymorphisms resulting in a lack of TLR1 cell surface expression.

Neither sex, smoking, BMI, alcohol consumption, APOE4 status nor MTHFR 677C > T polymorphism was associated with the rate of atrophy (P > 0.1 for all, adjusted for age).

Interestingly this genetic variation is associated also with susceptibility but the polymorphism plays opposing roles.

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.

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.

5 - HTTLPR polymorphism is associated with nostalgia proneness: The role of neuroticism.

Despite this, polymorphisms in HLA genes have been shown repeatedly to be associated with susceptibility to malaria, or subcategories of the disease.

Last, we tested whether these polymorphisms are associated with variability in APOE or TOMM40 messenger RNA (mRNA) expression in the human parietal cortex.

To explore the possibility of common genetic pathways within the respective pathophysiologies, nine ADHD candidate single nucleotide polymorphisms (SNPs) in seven genes were tested for association with PD in 5333 cases and 12,019 healthy controls: one variant, respectively, in the genes coding for synaptosomal - associated protein 25 k (SNAP25), the dopamine (DA) transporter (SLC6A3; DAT1), DA receptor D4 (DRD4), serotonin receptor 1B (HTR1B), tryptophan hydroxylase 2 (TPH2), the norepinephrine transporter SLC6A2 and three SNPs in cadherin 13 (CDH13).

Single nucleotide polymorphism -LRB--468 Gly to A) at the promoter region of SREBP - 1c associates with genetic defect of fructose - induced hepatic lipogenesis [corrected].

Overall, the APOBEC3A / B deletion polymorphism was not associated with risk of any of the four cancer types.

Goyal RK, Lin Y, Schultz KR, Ferrell RE, Kim Y, Fairfull L, Livote E, Yanik G, Atlas M. Tumor necrosis factor - alpha gene polymorphisms are associated with severity of acute graft - versus - host disease following matched unrelated donor bone marrow transplantation in children: a Pediatric Blood and Marrow Transplant Consortium study.

Interestingly, the three most common SNP variants detected in the LNCaP and 22Rv1 - associated XMRV genomes, the aforementioned A → G polymorphism at position 790, an A → G polymorphism at position 4264 and a C → G polymorphism at position 8112, can also be found in the VP35, VP42, and VP62 XMRV genomes, with the exception that the C → G polymorphism is not observed in VP35 due to lack of sequence coverage.

Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease - associated / functional polymorphisms.

Discrepancies in how individuals are reacting to drinking wine, and if wine is a migraine trigger, could be perhaps explained by genetic polymorphisms in certain enzymes associated with metabolism.