Sentences with phrase «risk gene studies»

Not exact matches

This is the second generation of the API undertaking and will extend the study to a larger share of people who have the APOE4 gene, which is a major genetic risk factor for Alzheimer's.

McCallion's strategy to make sense of all this data looks at the active genes in cells affected by a disease, groups of genes that interact with one another, their vulnerability to mutation and information from past scientific studies to filter more than a thousand gene candidates for disease risk down to just a handful within any one implicated region.

The study identified yet another mutation — albeit a rare one — in the SCARB1 gene, also associated with elevated HDL levels, that raised coronary heart disease risk by a whopping 80 percent.

These SCARB1 gene variant studies aren't the only ones to challenge the long - held belief that increasing HDL was the key to reducing heart disease risk.

Annabelle Rodriguez studies gene mutations that can lead to increased risk of heart disease, even in people with high HDL levels.

Researchers at the University of Maryland School of Medicine have identified a mutation in a fat - storage gene that appears to increase the risk for type 2 diabetes and other metabolic disorders, according to a study published online in the New England Journal of Medicine.

Previous studies have shown that inherited mutations in a gene (called TMLHE) that is required for carnitine biosynthesis are strongly associated with risk for development of autism - spectrum disorders, but the basis for that association has been unclear — until now.

These results can also be used by researchers studying the genetic underpinnings of mental disorders, as they indicate that the same genes might be associated with increased risk for various psychiatric disorders.»

Previous studies have shown than those of African descent do not usually carry a mutation to the filaggrin gene (FLG) that has been associated with the risk of onset and persistence of AD in those of European and Asian ancestry.

«Phenocopy can be caused by other risk - modifying genes or exposure patterns that increase the probability of the specific phenotype manifesting itself,» says the study's first author Hildur Helgadottir, researcher at Karolinska Institutet's Department of Oncology - Pathology, Stockholm, Sweden.

For example, we're funding research into faulty genes which make some men more likely to develop prostate cancer and studying how these genes could help doctors to identify patients who are more at risk.

Dr Antonio Pardiñas, first author of the study, said: «We show for the first time that genetic variants that do not severely impact gene function, but presumably have a more subtle impact on these critical genes, increase risk for developing schizophrenia.»

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 recent study identified over 100 genes associated with schizophrenia risk, but their functions are largely unknown,» said Yingwei Mao, associate professor of biology at Penn State and lead author of the study.

The largest of its kind, the study examined genetic data in 100,000 individuals including 40,000 people with a diagnosis of schizophrenia and also found that some of the genes identified as increasing risk for schizophrenia have previously been associated with other neurodevelopmental disorders, including intellectual disability and autism spectrum disorders.

A gene associated with the risk of schizophrenia regulates critical components of early brain development, according to a new study led by researchers from Penn State University.

The team also examined data from a prior genetic study of children with asthma and found that a variant of the dectin - 1 gene — which reduces production of the receptor — is strongly linked to increased asthma risk.

Genetic tests for mutations in the so - called breast cancer genes, BRCA1 and BRCA2, may not reveal as much about cancer risk as earlier reports have estimated, according to two studies published in tomorrow's New England Journal of Medicine.

«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.»

Ultimately, the study goes beyond just adding two more genes to the list of IBD risk factors.

And even where studies have linked a gene to a disease, people carrying the gene or genes will not necessarily develop the disease; they simply face an increased risk.

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.

«Oprl1 may be one of the many genes that contribute risk, though larger samples and replication studies are required to be certain of this.»

«Women who carry a mutation in BRCA genes have an increased risk of developing breast and ovarian cancer,» Kristy A. Brown, Ph.D., study principal investigator, said.

These new findings, along with other recent studies, suggest that the risk for congenital heart defects in Down syndrome can come from several genes and environmental factors, in addition to the substantial risk from the extra chromosome 21.

This appears to be the case: the greater the number of risk genes a person possessed, the smaller the volume of their hippocampus — regardless of whether they were a high - risk study participant or a patient.

The results from the study also showed that genes that increase the risk for cancer and diabetes, or are important for the immune response or sperm quality, are affected by smoking.

In this study, published in the October 31 issue of the Proceedings of the National Academy of Sciences, Sudhir Yadav PhD, a neuroimmunology post-doctoral fellow in the laboratories of Drs. Kouichi Ito, associate professor of neurology, and Suhayl Dhib - Jalbut, professor and chair of neurology, tested mice that were engineered to have a pre-disposition for MS. Because mice would not normally develop MS, researchers used MS - associated risk genes from real patients to genetically engineer mice for this study.

Previous studies have looked mainly at genes causing atherosclerosis and genes affecting the function of platelets and clotting processes as risk factors for ischemic stroke (clot obstructing blood flow to the brain).

«Studying congenital heart defects in the «at risk» Down syndrome population can make it possible to reveal genes that impact the risk of heart defects in all children, including those with typical number of chromosomes.»

Genetic studies have linked a number of risk genes to autism spectrum disorder (ASD).

In the second stage of the study, the researchers used another version of the gene - probe technology, called «quantitative PCR,» which yielded the vaginal concentrations of each of the 20 species in every sample, and linked it to HIV risk.

Researchers say that future studies could look at how changes in these genes may bring about this risk of — or resilience — to brain injury.

The celiac study followed 6,403 newborn children with either of two high - risk gene groups called HLA that are important for immune function — HLA - DR3 - DQ2 or HLA - DR4 - DQ8 — to see who would develop celiac disease or CDA.

In a world first researchers from the University's Institute of Translational Medicine, led by Professor Sir Munir Pirmohamed, conducted a genome - wide association study (GWAS) to pinpoint the genes responsible for increasing the risk of a person developing adrenal suppression.

The study builds on more than a decade of research from Cummings School of Veterinary Medicine and the University of Massachusetts Medical School that in 2010 initially found the neural cadherin (CDH2) gene on canine chromosome 7 appeared to coincide with an increased risk of OCD.

«By studying similarities and differences between genes and environmental factors in these countries, we hope to pinpoint risk factors for the disease.»

Professor Peter Kraft at Harvard TH Chan School of Public Health, USA, says: «Given the size of these studies, we expected that we would find a lot of new breast cancer risk variants, but the studies tells us a lot more about which genes are involved, revealing many previously unsuspected genes and genetic mechanisms underlying breast carcinogenesis.

Where mutations occur in two important cancer genes can affect a woman's risk of breast or ovarian cancer, a study of thousands of women shows.

This work is part of the ongoing Duke Neurogenetics Study (DNS), a comprehensive study linking genes, brain activity and other biological markers to risk for mental illness in young adStudy (DNS), a comprehensive study linking genes, brain activity and other biological markers to risk for mental illness in young adstudy linking genes, brain activity and other biological markers to risk for mental illness in young adults.

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.

One of them — the CRISPR - powered gene drive — is a case study in the power, and potential risks, of genome - editing technology.

Little has been known about the ways in which many diabetes genes work, but a study published in the journal Cell sheds light on a genetic risk component of type 1 diabetes and a new approach for keeping beta cells strong.

The authors will follow up the study with additional worldwide populations to better understand the mutations and these genes as a genetic marker for disease risk.

Environment Gets More Blame for Autism: A new study suggests that environment accounts for more than half of autism risk, while genes are responsible for about 40 percent.

Earlier studies had linked several genes to small increases in asthma risk.

The APOE gene, which has been linked to a higher risk of dementia, was determined in the study to be only a moderate risk factor.

The study noted increased levels of amyloid beta in a large group of patients with no hereditary risk gene.

The new study focused on 40 cognitively healthy older adults between the ages of 65 and 75 who are carriers of a gene variant (APOE e4) that is known to contribute to the risk of developing late - onset Alzheimer's disease.

The new study — published October 18, 2016 in the journal Molecular Psychiatry — combined genetic analysis of more than 9,000 human psychiatric patients with brain imaging, electrophysiology, and pharmacological experiments in mutant mice to suggest that mutations in the gene DIXDC1 may act as a general risk factor for psychiatric disease by interfering with the way the brain regulates connections between neurons.