Researchers at the Fred Hutchinson Cancer Research Center have identified three
risk alleles in three different genes associated with GDV in Great Danes.
One approach, developed largely in collaboration with Dr. Elaine Ostrander at the National Human Genome Research Institute of the National Institutes of Health and Dr. Kerstin Lindblad - Toh at the Broad Institute of MIT and Harvard, seeks to map
risk alleles in Portuguese Water Dogs, Golden Retrievers, and German Shepherds using resources made available by the recent completion of the Canine Genome Project.
OptiGen is able to provide updates on the actual frequency of
the risk allele in the population as more widespread testing of the breed occurs.
Not exact matches
In some cases, we can actually trace that increased risk to actual alleles that segregate at different frequencies in different populations (eg., diabetes in Native American populations
In some cases, we can actually trace that increased
risk to actual
alleles that segregate at different frequencies
in different populations (eg., diabetes in Native American populations
in different populations (eg., diabetes
in Native American populations
in Native American populations).
Additional analysis of UK Biobank data from 112,338 people of European ancestry revealed that a specific form of rs9349379 known as the G
allele, which was present
in 36 % of these individuals, was associated with an increased
risk of coronary artery disease.
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.
Women with two copies of s fared even worse: They had bones that were 4 % less dense — and faced a 280 % higher
risk of fracture — than did women without any s
alleles, says team member Andre Uitterlinden, a molecular geneticist at Erasmus University
in Rotterdam, the Netherlands.
«Carriers of this
allele had a roughly 2-fold increase
in risk for PTSD.»
The research by scientists at Children's Hospital Los Angeles and Columbia University shows a link between a particular
allele for serotonin found at a higher frequency
in those at
risk of depression because of family history, and those who go on to develop major depressive disorder.
Having this
allele reduces the
risk of severe malaria by about 40 %
in Kenyan children, with a slightly smaller effect across all the other populations studied.
The grey matter volume
in the left middle temporal gyrus was smaller
in schizophrenia patients harboring
risk homozygous T / T
alleles.
As a genetic explorer Peltonen has followed the movement of populations
in history, knowing that genes had diversified during the moves, but
in Finland as elsewhere only a tiny fraction of the
alleles and health
risks are distinctive.
40 individuals (22.9 %) had at least one ε4
allele and were considered «at
risk» for AD, 111 (63.4 %) had the ε3 / ε3 genotype and were considered «neutral,» and 24 (13.7 %)
in the «protective: group had at least one ε2
allele.
In addition, in two of the datasets where researchers had age - of - onset data for age - related diseases, they found that certain longevity alleles also were significantly associated with reduced risks for cardiovascular disease and hypertensio
In addition,
in two of the datasets where researchers had age - of - onset data for age - related diseases, they found that certain longevity alleles also were significantly associated with reduced risks for cardiovascular disease and hypertensio
in two of the datasets where researchers had age - of - onset data for age - related diseases, they found that certain longevity
alleles also were significantly associated with reduced
risks for cardiovascular disease and hypertension.
A new study published
in the current issue of Biological Psychiatry suggests that even when controlling for the
risk for Alzheimer's disease, the APOE ε4
allele also conveys an increased
risk for late - life depression.
Given that two separate teams found evidence for the same variant
in a large number of sick people, «one can be absolutely confident that this
risk allele is real,» says McPherson.
«Careful analysis of the total number of repeats, the number of interruptions
in the repeat tract, and the methylation status of the FMR1 gene is important for a proper understanding of an individual's
risk of transmission of larger
alleles to their offspring and to their personal
risk of disease pathology.
Intermediate
alleles are thought to be at
risk of expanding
in the offspring of people who carry them.
Mostly, I was interested
in two things: BRCA1 / 2 mutations and APOE4
alleles, well - established
risk variants for cancer and Alzheimer's disease, respectively.
DONG ET AL.The
allele apolipoprotein E ε4 (APOE ε4) is the greatest genetic
risk factor for Alzheimer's disease (AD), but the role of the ApoE4 protein
in AD has long been elusive.
Furthermore, sex - specific differences
in gene polymorphism are suggested by one study showing that diabetic women carrying ACE D
allele have a higher
risk for development of diabetic nephropathy, which was not seen
in diabetic men (Table 2)(331).
Performing genetic studies
in multiple human populations can identify disease
risk alleles that are common
in one population but rare
in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease
alleles.
Published
in the European Journal of Cancer Galore - Haskel G, Azizi E, Mohamdi H, Scope A, Chaudru V, Laitman Y, Barak F, Pavlotsky F, Demenais F, Friedman E. MC1R variant
alleles and malignant melanoma
risk in Israel.
We found a significant association between rs10524523 and
risk of LOAD
in APOE 33 homozygotes but
in the opposite direction as the previously reported association (the very long
allele was underrepresented
in cases vs controls
in this study (P =.004]-RRB-.
Use of common
risk alleles for changes
in clinical management can be challenging without a professional guideline.
In contrast, more than 70 other common alleles have been associated with breast cancer susceptibility, most of which confer only a mild to moderate increase in ris
In contrast, more than 70 other common
alleles have been associated with breast cancer susceptibility, most of which confer only a mild to moderate increase
in ris
in risk.
Common
risk alleles with a known association with a condition can inform an individual of an increased or decreased
risk of developing the condition
in question; however, the degree of certainty is often unknown.
In addition, the clinical sensitivity of tests for common
risk alleles is not necessarily high.
However,
in subgroup analyses stratified by age, we found that the deletion
allele was associated with increased
risk for lung cancer among individuals < 50 years of age (OR 2.17, CI 1.19 - 3.97), and that the association was gradually reduced with increasing age (p = 0.01).
Polymorphisms
in five of 15 genes (33 %) encoding molecules known to primarily influence pancreatic beta - cell function - ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4alpha), and INS (insulin)- significantly altered disease
risk, and
in three genes, the
risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait
in the QT study.
We imputed these variants into 104,220 individuals down to a minor
allele frequency of 0.1 % and found a recessive frameshift mutation
in MYL4 that causes early - onset atrial fibrillation, several mutations
in ABCB4 that increase
risk of liver diseases and an intronic variant
in GNAS associating with increased thyroid - stimulating hormone levels when maternally inherited.
The two most striking
risk factors appear to be hyperinsulinism and possession of one or two E4
alleles for the apolipoprotein E gene (ApoE4), which is involved
in lipid processing.
15
In fact, type 2 diabetes (T2D)-- a condition stemming from broken glucose metabolism and insulin signaling — has been identified as an additional risk factor for developing AD.16, 17 Moreover, the pathological changes that occur in AD in the brain physically resemble those seen in the pancreas and vasculature in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key facto
In fact, type 2 diabetes (T2D)-- a condition stemming from broken glucose metabolism and insulin signaling — has been identified as an additional
risk factor for developing AD.16, 17 Moreover, the pathological changes that occur
in AD in the brain physically resemble those seen in the pancreas and vasculature in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key facto
in AD
in the brain physically resemble those seen in the pancreas and vasculature in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key facto
in the brain physically resemble those seen
in the pancreas and vasculature in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key facto
in the pancreas and vasculature
in T2D.9, 18 Type 2 diabetics who carry ApoE4 alleles are at the greatest risk for AD, with an even more severe risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key facto
in T2D.9, 18 Type 2 diabetics who carry ApoE4
alleles are at the greatest
risk for AD, with an even more severe
risk reserved for those treated with exogenous insulin.19 This suggests that either T2D or related features of the metabolic syndrome bring about AD, or that they are separate consequences of the same underlying cause — and moreover, that insulin is a key factor.
It has been suggested that the positive associations reported
in case - control studies may have resulted from recall bias or confounding by factors such as smoking.19, 34 However, because we observed an association between coffee and
risk of MI among carriers of the * 1F
allele, and not among those homozygous for the * 1A
allele, the associations between coffee and MI are unlikely due to recall bias or residual confounding.
Advice on how to make best use of the DNA test for IG - PRA1 needs to account for the possibility that the disease may be inherited
in an ADIP manner and that the presence of a single copy of the
risk allele may cause PRA
in some Italian Greyhounds.
It must be noted however that a subset of PRA - affected Italian Greyhounds
in the study carried only one copy of the IG - PRA1
risk allele, suggesting that the disease may represent a mode of inheritance called «Autosomal Dominant with Incomplete Penetrance» (ADIP).
All Italian Greyhounds that were homozygous for the IG - PRA1
risk allele were diagnosed with PRA and two copies of the
risk allele were never observed
in any Italian Greyhounds with normal eye exams (at the
risk age or older).
At least one other form of PRA that is not associated with the IG - PRA1
risk allele is present
in the Italian Greyhound.
The majority of dogs
in the research that carried only one copy of the
risk allele did not develop PRA.
While Sentinel is safe to use
in dogs at
risk for MDRI -
allele mutation (Australian Shepherds, Collies, Shelties, etc.), unless tested normal, caution is advised if your pet is also being given amiodarone (Cordarone), azole antifungals such as ketoconazole, carvedilol (Coreg), cyclosporine (Atopica), diltiazem (Cardizem), erythromycin (Ery - Tabs) or clarithromycin (Biaxin), quinidine, spironolactone (Aldactone), tamoxifen, and verapamil (Calan).
For each of the three genes, one
allele (variant) is found at unusually high frequency
in dogs that have been treated for bloat, and the presence of any one of these «
risk»
alleles triples the chance that the dog will experience bloat at some time
in its life.
The team will investigate whether bloat
in German Shepherd Dogs is associated with the same
risk alleles and the same microbiome profiles as were seen
in Great Danes.
However, caution should be used
in aggressively selecting against mutant
alleles which have low penetrance or low
risk for the disease state when the mutant
alleles are common throughout the breed.
Specific assortments of MHC
alleles or haplotypes have been associated with an increased
risk for the development of diabetes and auto immune diseases
in humans.
Moreover, overrepresentation of a popular sire's genome
risks the widespread dissemination of monogenetic inherited disorders by inflating the
allele frequency of recessive deleterious variants carried by the sire and increasing the probability of identity by descent of undesirable
alleles in his descendants [18,20,21].
The test identifies seven mutations
in three different genes which permits identification of the «
risk alleles,» which are not causative of GDV but are highly associated.
Review: apolipoprotein E ε4
allele is a
risk factor for Alzheimer's disease
in different ethnic groups
In this study, measures of the quality and availability of social supports were found to moderate
risk for depression associated with a history of maltreatment and the presence of the short (s)
allele of the serotonin transporter gene promoter polymorphism (5 - HTTLPR).
In the absence of these experiences, the s
allele was not associated with an increased
risk for psychopathology.
The associated
alleles were common
in the studied populations and all had only small effects on disease
risk [123].