Sentences with phrase «disease allele in»

Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.

The identification of a single disease allele in 3 different MPDs prompted us to search for JAK2V617F mutations in CMML / aCML, AML, and MDS.

We did not identify the JAK2V617F disease allele in B - lineage ALL (n = 83), T - cell ALL (n = 93), or CLL (n = 45).

The identification of a single disease allele in 3 related myeloid diseases suggests that the JAK2V617F mutation may be important in the pathogenesis of additional hematopoietic malignancies.

Not exact matches

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.

Several variants, such as the HLA B * 5701 allele, have been associated with the pace of HIV disease progression in both controllers and «normals.»

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.

«Our findings show that a specific genetic marker (known as allele * 2 of the HS1, 2 A enhancer region) influences not just disease activity in RA patients, but also response to therapy in the early stages of their disease,» said lead investigator Dr Gabriele Di Sante of the Institute of Rheumatology and Related Sciences, Catholic University of the Sacred Heart, Rome, Italy.

Genotyping of a population of 329 patients with early RA revealed just over one - quarter had the allele * 2 HS1, 2 A enhancer, and one in 10 the allele * 1 HS1, 2 A enhancer, which is comparable with previously published data.7 Patients with the allele * 2 genotype had more active disease at the start of treatment and were significantly less likely to achieve a good response and / or remission after three months treatment than those patients with the allele * 1 genotype.

Valeriya Lyssenko of Lund University in Malmö, Sweden, and her colleagues set out to determine whether detecting common forms, or alleles, of nine diabetes - linked genes could predict who would develop the disease among a large population.

Because diseases can be endemic to specific regions of the world, these genes exist in thousands of versions, known as alleles.

Pickrell also reported that the frequency of the ApoE4 allele, which is associated with Alzheimer's disease, drops in older people because carriers died early.

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 hypertensioIn 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 hypertensioin 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.

It also contains some of the most variable human genes: hundreds of versions — or alleles — exist of each gene in the population, allowing our bodies to react to a huge number of disease - causing agents and adapt to new ones.

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.

A naturally occurring variant in a different gene, the so - called APOE2 allele, has been previously shown to protect against Alzheimer's disease, but Stefansson says the new variant, while rarer, confers much greater protection.

«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.

Our data suggest that certain presumed null alleles, although unable on their own to support basal transcription, may in fact have a substantial impact on disease outcome in compound heterozygous humans, as they do in mouse models.

In fairness, I had a fairly unexciting 23andMe profile, absent of hidden Mendelian disease alleles or high - penetrance variants for late onset disease.

Despite reduced levels of mRNA expression, the homozygous lethal Xpd † XPCS allele ameliorated multiple XpdTTD - associated disease symptoms in compound heterozygous XpdTTD / † XPCS animals including the hallmark brittle hair and cutaneous features fully penetrant in homo - and hemizygous TTD mice (Figure 2A — 2C).

Obviously there's considerable power to detect variants contributing to disease in a family with segregating alleles (rather than unrelated individuals).

We report a variety of biallelic effects on organismal phenotype attributable to combinations of recessive Xpd alleles, including the following: (i) the ability of homozygous lethal Xpd alleles to ameliorate a variety of disease symptoms when their essential basal transcription function is supplied by a different disease - causing allele, (ii) differential developmental and tissue - specific functions of distinct Xpd allele products, and (iii) interallelic complementation, a phenomenon rarely reported at clinically relevant loci in mammals.

In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5).

Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28].

Mostly, I was interested in two things: BRCA1 / 2 mutations and APOE4 alleles, well - established risk variants for cancer and Alzheimer's disease, respectively.

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

We further found that in about 15 % of patients with FLT3 - ITD mutations, loss of the wt - FLT3 allele can be observed, and these patients have a particularly poor outcome, with a median disease free survival between 4 and 6 months.

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.

Alternatively, a basic gene drive could spread protective alleles through a population in advance of an impending ecological or disease - based challenge.

At the same time, several studies have outlined the fine specificity of different closely related alleles, in some cases clearly associated with predisposition to disease resistance or susceptibility.

Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in human populations, might explain most or all of the heritability of common complex disease.

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.

These mutant kinases are attractive therapeutic targets, as demonstrated by the efficacy of imatinib in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin MPD associated with activating alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowIn addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin tyrosine kinases and in other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin other genes have been identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknowin many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknown.

If certain genetic variations are found to be more frequent in people with the disease compared to people without disease, the variant alleles are said to be «associated» with the disease.

However, it took whole - genome sequencing to identify the second disease allele, a heterozygous ~ 55 kb deletion spanning at least three other exons in the gene.

4 allele among women with Alzheimer's disease and, critically, demonstrate that this interaction between APOE genotype and gender is detectable in the preclinical period.

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.

Combining this with recent advances in genome editing techniques such as the clustered regularly interspaced short palindromic repeat (CRISPR) system has provided an ability to repair putative causative alleles in patient lines, or introduce disease alleles into a healthy «WT» cell line.

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 benefit seemed to be particularly pronounced in individuals with the apolipoprotein E-e4 allele, a genetic marker associated with late - onset Alzheimer's, which usually happens after the age of 65, and is the most common type of the disease

No significant difference in the distribution of the investigated HNMT alleles could be shown between patients with gastrointestinal diseases and control subjects (45, 47), but a functional relevant polymorphism of the HNMT gene (chromosome 2q22) has been described for white asthma patients (48).

Preclinical evidence of Alzheimer's disease in persons homozygous for the e4 allele for apolipoprotein E. NEJM 1996; 334 (12): 752 - 758.

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).

1990 - Medical Genetics researchers develop first allele - specific test for an inherited disease in domestic animals.

Whilst some of the lost alleles may be deleterious versions of genes, the process may at the same time increase the proportion of other, mildly deleterious alleles, in the small gene pool, and thus increase the incidence of some diseases.

NCL is an autosomal recessive inherited disease i.e. the disease develops in dogs, who inherit the mutated allele from both parents.

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.

Loss of MHC allele heterozygosity and / or inadvertent selection for disease - associated alleles due to standard breeding practices may be involved in this increasing incidence of immune - mediated disease.»

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.