Sentences with phrase «on a variant associated»

Not exact matches

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

The team found that mothers passed only half of their structural variants on to their autistic children — a frequency that would be expected by chance alone — suggesting that variants inherited from mothers were not associated with autism.

The researchers computed a genetic risk score for each participant based on 76 common variants known to be associated with elevated risk of obesity, and analyzed this score in the context of accelerometer data and participants» BMIs.

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.

The genetic variants associated with asthma have also effects on autoimmune diseases and other diseases with an inflammatory component such as cardiovascular diseases, cancers, neuro - psychiatric diseases, which strengthens the importance of pleiotropy in multifactorial diseases.

The researchers found, for example, that extraversion was associated with variants in the gene WSCD2 and near gene PCDH15; neuroticism was associated with variants on chromosome 8p23.1 and gene L3MBTL2.

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.

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.

After analyzing both scans together for DNA variants associated with differences between when each patient's movement - associated symptoms first appeared and when they would have been expected based on the number of CAG repeats, MGH CHGR investigator and lead author Jong - Min Lee, PhD, identified two locations on chromosome 15 where variants were significantly associated with either early or late symptom onset.

To investigate, Bernard Crespi, an evolutionary biologist at Simon Fraser University in Vancouver, Canada, and colleagues gathered data on all known genetic variants associated with each condition, then looked for patterns of co-occurrence.

Private DNA Companies Tap Crowds to Speed Disease Research: Drawing on its large consumer base, 23andMe identifies two genetic variants associated with Parkinson's Disease in just 18 months.

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.

«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.

Drawing on its large consumer base, 23andMe identifies two genetic variants associated with Parkinson's Disease in just 18 months, a fraction of the time disease studies usually require.

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.

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.

More importantly, the team confirmed that our genes influence performance on the Eyes Test, and went further to identify genetic variants on chromosome 3 in women that are associated with their ability to «read the mind in the eyes.»

In Tibetans, the ADH7 gene variant is associated with higher weight and BMI scores, which could help the body store energy during particularly lean times on the hardscrabble plateau.

For example, Ebers says, the new research also shows that the IL7R variant associated with increased MS risk is present in 70 % of people of European descent, suggesting that many other genetic factors are involved because few of these people contract MS. «The most striking finding,» Ebers says, «is the degree of genetic influence [on MS] that remains unexplained.»

«Our group is currently working on determining the high resolution molecular structures of the truncated prion protein variants associated with familial human CAA in order to gain a complete atomistic understanding of the factors underlying their transmission, and the present study is a major stepping stone in this effort,» Jaroniec said.

In fact, claims that size variation in Australopithecus and / or Paranthropus was larger than that in recent human populations include inferences on sexual dimorphism (Richmond and Jungers, 1995; Plavcan et al., 2005; Lockwood et al., 2007; but see Reno et al., 2003), whereas arguments referring to early Homo are usually associated with eco-physiological variants (Antón et al., 2014; Di Vincenzo et al., 2015).

You need the presence of both diabetes and the variant to increase the risk of CHD,» says Alessandro Doria, M.D., Ph.D., M.P.H., co-senior author and an Investigator in the Section on Genetics and Epidemiology, Associate Professor of Medicine at Harvard Medical School, and Associate Professor in the Department of Epidemiology at the Harvard School of Public Health.

After looking at 9 million genetic variants in those who were asparagus anosmic, they linked this deficiency to 871 individual sequence variations they discovered in chromosome 1, on genes associated with our sense of smell.

Davis was able to analyze the resulting data on a chromosome - by - chromosome basis, along with the frequency of the identified variants and the function of variants associated with each condition.

Given the uniqueness of the clinical features, it stands to reason that an improved annotation of these features (deep phenotyping) as well as an interpretation of the genomic variants based on the existing knowledge associated with such clinical data should improve our diagnostic rate.

Dr. Sucheston - Campbell will present a companion presentation based on this research, «Functional Genetic Variants on 14q32 Associate with Death Due to Acute Myeloid Leukemia (AML) and Myelodysplastic Syndrome (MDS) within One Year after HLA - Matched Unrelated Donor Blood and Marrow Transplantation (DISCOVeRY - BMT Study),» on Saturday, Feb. 25, 6 p.m. at Gaylord Palms Convention Center, Florida Hall C. Dr. Hahn is senior author of that presentation.

Dr. Hahn will discuss this work in her presentation, «Novel genetic variants associated with death due to acute lymphoblastic leukemia within one year after HLA - matched unrelated donor blood and marrow transplantation (DISCOVeRY - BMT Study),» on Friday, February 24, 3:15 p.m. at Gaylord Palms Convention Center, Florida Hall E.

A carrier is capable of passing on a genetic variant associated with recessive disease (autosomal recessive or X-linked recessive) to their offspring.

Major themes of Dr. Drevets studies have involved: 1) characterizing the pathophysiology of mood disorders using multimodal neuroimaging technologies; 2) delineating neural circuits in which dysfunction is associated with major depressive episodes; 3) elucidating effects of genetic variants associated with the risk for mood disorders on neural function, structure and receptor pharmacology; 4) investigating the neural mechanisms of antidepressant and mood stabilizing treatments, and 5) developing novel therapeutics for mood disorders.

One of the rare variant burden genes, TIMP3, was previously associated with Sorsby's fundus dystrophy, a rare disease similar to AMD but with earlier on set and Mendelian inheritance.

The paper, «Genome - wide association study identifies sequence variants on 6q21 associated with age at menarche,» is published in the online edition of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming print edition of the journal.

PheWAS can be applied on genes that possess high - impact variants or significant cis - QTLs to identify the associated traits.

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.

You may have large - scale RNA - Seq data, and don't know whether technical effects are relevant; or you may have large grouped cohorts of DNA - Seq data, and need to narrow down your variant list to a few significant ones, associated with disease; or you may want to do an integrated study on a dataset containing RNA and ChIP - Seq samples.

The authors exploited linkage disequilibrium (the tendency of variants on the same chromosome to be inherited together) to identify, in Europeans, variants that tend to be inherited together with associated SNPs.

Reykjavik, January 6, 2008 — deCODE scientists today report that the genetic variant on chromosome 9p21 that the company has linked to increased risk of heart attack is also associated with up to 70 % increase in risk of abdominal aortic aneurysm (AAA) and intracranial...

We found that light skin associated variant of SLC24A5, shared by West Eurasians and South Asians occur on the same haplotype background.

Genome - wide association study identifies sequence variants on 6q21 associated with age at menarche.

Conclusions: Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS.

Pathogenic or likely pathogenic variants in genes associated with actionable disorders are Sanger verified on a separate blood sample, focusing on the ACMG secondary findings list (currently 59 genes).

Kickstarter remains the best - known crowd - funding vehicle generally, but perhaps the most prominent variant on the model within the publishing industry comes from Unbound, which outsources the financing of the books it publishes to readers, whilst still providing many of the other activities conventionally associated with publishers, such as editing and marketing.

The EMH, and more particularly the Capital Asset Pricing Model with which it is associated, also underpin the Black - Scholes options pricing model, variants on which have been used to value and hedge options positions in all markets since its invention in 1973.

Disease Association Note: Variants of the D locus are sometimes responsible for a condition called color dilution Alopecia, black hair follicular dysplasia, or blue Doberman syndrome (depending on the breed) because dilute coat color can be associated with development of alopecia (hair loss).

The allelic variant, RS3 334, is associated in men, but not women, with a lower bonding quality with the partner (characterized by lower scores on the partner bonding scale and a greater likelihood of reporting martial problems)(Walum et al., 2008).