Use of common
risk alleles for changes in clinical management can be challenging without a professional guideline.
Further, there are currently no validated ways of combining multiple
risk alleles for the same disease.
The A-1 allele of the DRD2 gene is considered
the risk allele for antisocial phenotypes.
Not exact matches
Individuals were classified as high
risk for Alzheimer's if a DNA test identified the presence of a genetic marker — having one or both of the apolipoprotein E-epsilon 4
allele (APOE - e4
allele) on chromosome 19 — which increases the
risk of developing the disease.
«Carriers of this
allele had a roughly 2-fold increase in
risk for PTSD.»
The study found that among those at low
risk for depression, the «S» (short)
allele is associated with a thinner cortex than those with the «L» (long)
allele.
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.
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.
Carriers of the apolipoprotein (ApoE) ɛ4
allele are at greater
risk for developing late - onset Alzheimer's disease (AD), develop AD at an earlier age, and experience a more severe cognitive decline and shorter survival times.
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 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.
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).
The results remained significant after adjusting
for multiple
risk factors including age, sex, race, education, and presence of an APOE ɛ 4
allele.
The presence of a common
risk allele can indicate a need
for increased surveillance, while a negative result implies a
risk similar to the general population.
We have developed genetic specific
risk curves
for patients with Mild Cognitive Impairment, a condition where the APOE e4
allele is associated with more rapid progression to AD and differential response to certain pharmacological treatments.
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).
At low - density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased
risk for MI; carriers of null
alleles at LDLR were at even higher
risk (13-fold difference).
Such strategies may identify compensatory mutations that reduce the pathophysiological effects of the
risk alleles, and help determine the cellular pathways required
for the normal function of hSERT.
11 ApoE4 heterozygotes (people with one
allele) have a five-fold increased
risk of developing AD, and homozygotes (two
alleles) are estimated to have a staggering lifetime
risk between 50 - 90 percent.12 Despite this seemingly damning genetic heritage, the ApoE4
allele is neither required nor sufficient
for development of AD, as 50 percent of people with AD are not carriers, and some E4 homozygotes never develop the disease.13 On the other hand, the other known
risk factor — hyperinsulinism — elevates
risk by 43 percent independently of ApoE status.
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 factor.
When participants were stratified by CYP1A2 genotype, the increased
risk of MI associated with coffee intake was observed only among carriers of the slow * 1F
allele (P =.04
for gene × coffee interaction).
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.
It is well known that purebred dog breeds are associated with differing susceptibility to specific malignancies, suggesting that selected breeds of dog are inheriting «at
risk»
alleles for very few genes, perhaps even a single gene, with a profound effect.
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.
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).
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 li
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 li
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.
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.
This study found that individuals with the short
allele (particularly those with the short / short genotype) were at greater
risk for depression when exposed to life stressors such as divorce or the death of a loved one than were long / long individuals.
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 study also demonstrates that
risk for depression associated with the s
allele and stressful life events is further moderated by social support quality and availability.
The estimated relative
risk for disorganised attachment among children carrying the 7 - repeat
allele was four-fold, with the frequency of the 7 - repeat
allele being 67 % in disorganised infants as opposed to 20 % in securely attached infants [95], and with 50 % frequencies in the insecure - avoidant and resistant groups.
Evidence from behavioural genetics indicates that the S
allele of the serotonin transporter gene (5 - HTTLPR) is associated with increased negative emotion, including heightened anxiety (Sen et al. 2004; Munafò et al. 2005), harm avoidance (Munafò et al. 2005), fear conditioning (Lonsdorf et al. 2009), attentional bias to negative information as well as increased
risk for depression in the presence of environmental
risk factors (Caspi et al. 2003; Taylor et al. 2006; Uher & McGuffin 2008; see also Munafò et al. 2009).
That is, a current stressful environment confers enhanced
risk for depression among those homozygous
for the s
allele, but a current supportive environment confers less
risk for depression than is true of people who are s / l or l / l.
Previous research has suggested that being homozygous
for the short
allele (s / s) may confer
risk for depression (25).
Although recent research has demonstrated that the
allele × environment strategy is promising
for detecting individual vulnerability to environmental
risk, reported associations between gene variants and complex behaviors are in general weak.
This direction of the association, however, is concordant with the idea that the minor
allele of SNP rs11568817 engenders a
risk for higher levels of CU traits, which in turn were found to be associated with lower levels of peripheral serotonin.
As expected, over a twenty - seven - month period, the best predictor of outcomes was the DRD4 × Family
Risk × AIM interaction, with the impact of the intervention greatest for youth from contexts of high family risk who had the long - allele genot
Risk × AIM interaction, with the impact of the intervention greatest
for youth from contexts of high family
risk who had the long - allele genot
risk who had the long -
allele genotype.