Sentences with phrase «of the gene variants associated»

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Collaboration based on new findings from the Regeneron Genetics Center ® showing variant in HSD17B13 gene is associated with reduced risk of chronic liver diseases

Variants in the gene called Telomerase Reverse Transcriptase (TERT) on chromosome 5 that were associated with older IEAA were also associated with longer telomeres indicating a critical role for TERT in regulating the epigenetic clock, in addition to its established role of compensating for cell replication - dependent telomere shortening.

To identify gene variants associated with musical aptitude, Irma Järvelä at the University of Helsinki, Finland, and colleagues analysed the genomes of 767 people assessed for their ability to detect small differences between the pitch and duration of a sound, and musical pattern.

The archaic - like variants are associated with an increase in the activity of the TLR genes and with greater reactivity to pathogens.

They discovered that several genetic variants in the hunter - gatherers were linked to a gene associated with physical performance, which they hypothesise could be part of the physiological adaptation to cold.

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.

An estimated 40 percent of the population has the primary gene variant associated with celiac disease, but only 1 percent of people with these genes go on to develop intestinal inflammation and damage — the hallmarks of the disease — after ingesting gluten.

The celiac - associated variant of lnc13 binds poorly to these proteins, leading to increased expression of inflammatory genes.

Certain gene variants are associated with an increased risk of disease, but MS is rarely directly inherited.

Genetic tests could one day indicate if patients are predisposed to high levels of TNF — possibly associated with the newly identified receptor gene variant — helping to identify patients that will respond to antibody therapy.

«In the current study, we analyzed dozens of variants of those genes and other genes frequently associated with obesity risk and saw that, while total fat intake was related to higher BMI, people who were genetically predisposed to obesity and ate the most saturated fat had the highest BMIs.»

Gusella explains that the presence of two modifying variants on chromosome 15 — one associated with symptoms appearing an average of six years early, the other associated with an average one - and - a-half-year delay — implies that there may be two actual modifying variants that both influence one modifier gene but in opposite directions.

Alzheimer's - Of the three variants of the ApoE gene, ApoE4 carries the highest risk for late - onset Alzheimer's (other genes are associated with early - onset Alzheimer'sOf the three variants of the ApoE gene, ApoE4 carries the highest risk for late - onset Alzheimer's (other genes are associated with early - onset Alzheimer'sof the ApoE gene, ApoE4 carries the highest risk for late - onset Alzheimer's (other genes are associated with early - onset Alzheimer's).

In addition to speeding up the development of brain plaques associated with Alzheimer's, a gene variant known as APOE4 also makes tau tangles — another signature of the disease — worse, researchers report online September 20 in Nature.

Large - scale genomic studies will probably uncover more gene variants associated with increased risk of developing PTSD, says de Quervain, and may provide a better understanding of the molecular mechanisms involved.

The group has also shown that in humans, genetic variants of the Oprl1 gene are associated with higher risk of developing the disorder after exposure to trauma.

Having just one copy of a particular variant of a gene called CREBRF is associated with a 1.5 increase in BMI.

The increased risk closely correlates with the frequency of a gene variant previously associated with that adverse reaction, supporting recommendations to screen for that variant in patients from those populations.

When population geneticist Andrea Manica and graduate student Marcos Gallego Llorente at the University of Cambridge in the United Kingdom analyzed the sequence, they found that the Mota man had brown eyes and dark skin, as well as three gene variants associated with adaptation to high altitudes; some peaks in the highlands reach 4500 meters, as high as the Matterhorn.

Animal studies have suggested that overactivation of TLR7 plays a role in lupus, and a gene variant that increases expression of the receptor has been associated with increased lupus risk in human patients.

Among the gene variants modern humans inherited from Neandertals are ones associated with higher cholesterol, increased belly fat, rheumatoid arthritis and schizophrenia, researchers learned from analysis of the new Neandertal DNA.

Interestingly, a variant of the WNT10A gene associated with lower levels of its protein's expression has been linked to a greater likelihood of male pattern baldness, according to a recent genome - wide association study.

Three simultaneous reports involving more than 32,000 participants uncovered four new diabetes - associated gene variants, bringing to 10 the number of known non-Mendelian genetic risk factors for type 2 diabetes.

Results from the analysis confirmed previous findings of some copy number variants already associated with autism, but they also found a host of other genes (SHANK2, SYNGAP1, DLGAP2 and the X chromosome — linked DDX53 - PTCHD1 locus) in which mutations seem to be linked to autism.

The gene for MAO - A has several variants, some of which are associated with relatively higher and lower levels of enzyme activity.

Now, to enable widespread gene delivery throughout the central and peripheral nervous systems, Caltech researchers have developed two new variants of a vector based on an adeno - associated virus (AAV): one that can efficiently ferry genetic cargo past the blood - brain barrier; and another that is efficiently picked up by peripheral neurons residing outside the brain and spinal cord, such as those that sense pain and regulate heart rate, respiration, and digestion.

A follow - up study of 96 other patients with Alzheimer's disease confirmed that this HLA variant is associated with earlier onset of Alzheimer's, although Payami cautions that another gene very close to HLA - A2, and not HLA - A2 itself, could be at fault.

As part of the International Visible Trait Genetics Consortium, he and his colleagues examined the DNA of five groups of people to see whether any particular variants of a gene were associated with each trait.

However, the researchers found that a variation of ECR47 associated with ADHD disrupted ECR47's ability to bind an important neurodevelopmental transcription factor, YY1 — an indication that the risk variant interferes with gene transcription.

«We know that most of these risk variants on their own play little role in the development of MS.. But mapping the collection of genes associated with MS represents an important advance in efforts to identify the key mechanisms behind its development,» Dr Harbo says.

A decade ago, they also identified a relationship between ALS and excess iron accumulation when they found that 30 percent of ALS patients in their clinic carried a variant of a gene known as HFE that is associated with iron overload disease.

For the new mouse model, the researchers exposed adolescent mice with at least one copy of a variant of the BDNF gene, which has been associated with anorexia and anxiety in mice and humans, to social stress and caloric restriction.

A rare gene variant discovered by UCL (University College London) scientists is associated with an increased risk of developing schizophrenia, bipolar disorder and alcoholism, confirms new research.

Clearly, more research is necessary, but this new study adds to the growing and substantial effort to understand how the gene variants that contribute to the development of schizophrenia give rise to the cognitive disability commonly associated with it.

In her most recent study, published in the American Journal of Medical Genetics in 2006, James found that common gene variants that support the glutathione pathway may be associated with autism risk.

Interestingly, the team also found the spread of two gene variants associated with celiac disease.

Different versions of the FRO2 gene («variants») fell into two groups, those that were associated with a short root and those that were associated with a long root.

To find out whether variants of FRO2 were actually causing the difference (rather than merely being associated with it), the team grew seeds whose FRO2 gene had been deactivated.

«While this study does not show that these common gene variants produce schizophrenia per se, it elegantly suggests that these variants may contribute to declines in intelligence, a clinical feature associated with schizophrenia,» commented Dr. John Krystal, Editor of Biological Psychiatry.

Many cluster around sets of genes associated with growth, including 21 variants found in or near genes that regulate the building of bone.

One of their findings was a variant in a gene called Ret that had not been previously associated with the disease, although other variations in Ret had been fingered as culprits.

The Boulder, Colo., company Atlas Sports Genetics today began selling just that sort of product: for $ 149, it says it will screen for variants of the gene ACTN3, which in elite - level athletes is associated with the presence of the muscle protein alpha - actinin - 3.

Among infants with neonatal abstinence syndrome (NAS; caused by in utero opioid exposure), variants in certain genes were associated with a shorter length of hospital stay and less need for treatment, preliminary findings that may provide insight into the mechanisms underlying NAS, according to a study in the May 1 issue of JAMA, a theme issue on child health.

The Neurogenomiks research group, linked to the Achucarro Basque Centre for Neuroscience (EHUgroup) and the University of the Basque Country (UPV / EHU), has just had a research article published in the scientific publication Journal of Immunology; it details how they have managed to show that the gene known as ANKRD55 produces 3 different transcripts of the messenger RNA, and that the genetic variant associated with MS greatly increases the production of these transcripts.

The team also found variants of two neighboring genes, HERC2 and OCA2, which are associated with light skin, eyes, and hair in Europeans but arose in Africa; these variants are ancient and common in the light - skinned San people.

«It is also possible that these data will reveal that some previously identified disease - associated sequence variants actually fall within a formerly unrecognized primary miRNA gene, thereby raising the possibility that such variants may influence expression of the encoded miRNA,» Mendell said.

Gene variants associated with GC altered promoters lack immunogenic N - terminal - lacking peptides, enhancing the ability of gastric tumours to evade the native body's immune response.

Now the biggest - ever genetic study of mental illness has found 128 gene variants associated with schizophrenia, in 108 distinct locations in the human genome.

Researchers at the U.S. Military HIV Research Program (MHRP) tested whether specific variants of immune response genes called HLA were associated with greater protection against the virus.

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.