Not exact matches
While several studies in the intervening years have
investigated whether particular
genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an individual's whole genome to identify chromosomal regions containing
variants that are associated with the disease traits that are being studied.
While previous investigations into the protein's effects have used either mice in which
gene expression was knocked out or transgenic animals that expressed human
gene variants throughout their lifetimes, the MGH - MIND - led study used a different approach to
investigate the effects of introducing the
variant forms of the protein into brains in which plaque formation had already begun.
If, say, an unexpected adverse event pops up in a human trial, the informaticians can then sift animal, lab, and human data to
investigate the possibility that certain
gene variants or other factors predispose patients to the adverse event.
«GECCO aims to continue to discover additional colorectal cancer - related
variants by
investigating how genetic
variants are modified by other environmental and lifestyle risk factors, including biomarkers as well as how they influence patient treatment response and survival,» Peters said, emphasizing how much further research is required to uncover the specific mechanisms by which
genes modulate the intake of certain foods on colorectal cancer risk.
In a study, published in Science, they
investigated a
gene region that contains a particular single nucleotide
variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formation.
A research team led by an award - winning genomicist at Western University has developed a new method for identifying mutations and prioritizing
variants in breast and ovarian cancer
genes, which will not only reduce the number of possible
variants for doctors to
investigate, but also increase the number of patients that are properly diagnosed.
Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism;
variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance
investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular
genes, proteins, or biological systems.
After
investigating more than 11 million
gene variants, the study authors found that 14 of the
variants were associated with hot flashes.
That particular high risk
variant is not seen in Golden Retrievers, but the association between the
genes of the immune system and hypothyroidism is incompletely
investigated in Golden Retrievers.
The widely used strategy of allele association
investigates correlations of
gene variants with phenotypes, i.e., it probes if individuals with a trait of interest carry a specific
gene variant more frequently than individuals in a control group (case - control studies).