Variant homozygotes. Medical search. Frequent questions

To avoid potential confounding by sample-to-sample differences in the quality and yield of RNA preparations, or by interindividual differences in trans -acting factors that influence the expression of CYP2A13 , we determined the relative expression of variant and wild-type (WT) CYP2A13 alleles in RNA samples from heterozygotes. (aspetjournals.org)
People with a variant in one copy of the MSTN gene in each cell (heterozygotes) also have increased muscle bulk, but to a lesser degree. (medlineplus.gov)
RESULTS: MnSOD genotype distributions were 27% CC (wildtype homozygotes), 50% CT (heterozygotes) and 23% TT (variant homozygotes). (cdc.gov)
Given the higher frequency of the variant, only compound heterozygotes were initially referred, allowing for optimization of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. (cdc.gov)
By studying a cohort of ApoB R3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle. (clinicforspecialchildren.org)
We found that after adjusting for other covariates, NSCLC patients who smoked and who respectively had CG, CT, and TC heterozygotes of HMGB1 rs2249825, rs1045411, and rs1360485, were at lower risk of developing mutant EGFR , compared to those patients with wild-type homozygotes. (jcancer.org)
The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)

This leads to higher rates of homozygosity, and increases the chance occurrence of pathogenic variants in a homozygous state that lead to diseases with recessive inheritance. (nature.com)
Here, we show that this is a pathogenic hypomorphic variant in a mouse model. (nature.com)
It is possible that missense variants of genes for which truncating mutations are clearly pathogenic may also be deleterious, but with reduced penetrance. (bmj.com)
We investigated a panel of 34 known high/moderate-risk cancer genes, including 16 related to breast or ovarian cancer (BC/OC) genes, and 63 candidate genes to BC/OC in 192 clinically suspicious of hereditary breast/ovarian cancer (HBOC) Spanish families without pathogenic variants in BRCA1 or BRCA2 (BRCA1/2). (cancerindex.org)
Hemochromatosis is an autosomal recessive disease caused in most cases by a pathogenic variant in the HFE gene on chromosome 6. (mhmedical.com)
High serum ferritin levels are seen in hyperferritinemia cataract syndrome associated with pathogenic variants in the FTL (ferritin L-chain) gene. (mhmedical.com)

The higher allele frequencies of deleterious founder variants increases the statistical power for detecting disease associations. (nature.com)
Though E3 has historically been regarded as the risk-neutral ApoE variant, in reality, there is a subgroup of E3 carriers who seem just as prone to AD as people with the high-risk E4 allele. (alzforum.org)
Homozygotes for this allele are prone to severe viral diseases. (rupress.org)
Within patients harboring mutant EGFR , HMGB1 rs1360485 C (TC + CC) allele carriers were at higher risk of developing poorly differentiated cancer types (odds ratio=5.493, 95% confidence interval: 1.130~26.696, p =0.019), compared to patients with TT homozygotes. (jcancer.org)
The current study demonstrated that the rs78378222 polymorphism minor allele introduces a novel potential miR‑125b binding site in the TP53 3'‑UTR with a consecutive 8‑bp perfect match, creating a ʻgain‑of‑function' variant and affecting the regulation of TP53 expression. (spandidos-publications.com)
Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. (utsouthwestern.edu)

She is proud to have been involved in the development of the risk factor screening program for permanent hearing loss in Ontario, which includes newborn screening for Cytomegalovirus and common variants in the GJB2/6 and SLC26A4 genes. (cdc.gov)
The final study, published today in the BMC journal Environmental Health [ full journal article below ], found that veterans with identified variants of the butyrylcholinesterase (BChE) gene were 40 times more likely to have GWI if they took an anti-nerve gas pill called pyridostigmine bromide (PB) during the war, compared to veterans with similar genes who did not take the pill. (91outcomes.com)
COA7 gene variants may have caused parkinsonism in this case because mitochondrial function-related genes, such as parkin and PINK1, are known causative genes in some familial Parkinson's diseases. (biomedcentral.com)
MicroRNAs (miRNAs) negatively regulate the expression of the target genes by binding to ʻseed sequences' in the 3'‑untranslated region (3'‑UTR) mRNA transcripts, and the variants within or nearby ʻseed sequences' may compromise or enhance miRNA/mRNA interaction leading to either ʻloss‑of‑function' or ʻgain‑of‑function' effects. (spandidos-publications.com)

They therefore differentiate generalised misfolding from polymerisation tendencies in missense variants of α1-antitrypsin. (bbk.ac.uk)

As a result, the Finnish population is characterized by higher rates of DNA stretches with a common origin 6 , 7 carrying particular sets of genetic variants. (nature.com)
For common genetic variants, early genome-wide association studies (GWASs) found that additive models captured most genotype-phenotype associations, including those with non-additive (also called dominance) effects 17 . (nature.com)
The authors calculated that routine genetic screening of such males at age 30 and females at age 45 could identify 40% of all homozygotes in Australia, compared with the detection of roughly 3% of homozygotes using current testing strategies. (cdc.gov)
Early studies were promising, and apps for smart phones began to appear so that a prescriber could input the genetic test results from a few CYP variants and predict a starting dose and/or the maintenance dose required. (usf.edu)
In 2019, Newborn Screening Ontario launched a novel screening approach for genetic permanent hearing loss (PHL) risk involving universal testing of newborn dried blood spots for a panel of penetrant GJB2 and SLC26A4 variants associated with congenital or very early onset PHL. (cdc.gov)
This mouse population segregates millions of variants from eight inbred founders, enabling precision genetic mapping with extensive genotypic and phenotypic diversity. (elifesciences.org)
Our results demonstrate that statistical interactions between genetic variants and chromatin accessibility are common throughout the genome. (elifesciences.org)
This makes TCF7L2 variants the strongest known genetic risk factors for T2DM. (medscape.com)
[ 11 ] Subsequent studies have shown that several noncoding genetic variants of TCF7L2 are associated with T2DM risk in populations of diverse ancestries in the United Kingdom, the Netherlands, Finland, Sweden, France, India, and Japan. (medscape.com)
[ 29 ] These data suggest that genetic susceptibility to T2DM as determined by TCF7L2 variants might prove an actionable indicator for early intervention and disease prevention. (medscape.com)

The frequency of the C282Y variant averages 7% in Northern European and North American White populations, resulting in a 0.5% frequency of homozygotes (of whom 38-50% will develop biochemical evidence of iron overload but only 28% of men and 1% of women will develop clinical symptoms). (mhmedical.com)

We observed both phenotypes in 2 siblings carrying the same compound heterozygous variants, which could be explained by variable disease expression and warrants caution when making assertions about genotype-phenotype correlations. (nih.gov)
Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. (plos.org)
Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)
Patients with class I, II, or III variants are considered to have a more severe genotype that results in little or no CFTR function, whereas patients with 1 or 2 class IV, V, or VI variants are considered to have a milder genotype that results in residual CFTR function. (msdmanuals.com)

Four participants with biallelic IDH3A variants displayed a typical arRP phenotype and 3 participants were diagnosed with arRP and pseudocoloboma of the macula. (nih.gov)
We propose that a homozygous loss-of-function variant in EMC10 causes a novel syndromic neurodevelopmental phenotype. (nih.gov)

The response to botulinum toxin-A was evaluated at three months after injection, as absolute or relative reductions in OAB symptoms or in scores from questionnaires ICIQ-OAB (parts A and B) and ICIQ-LUTS-QoL (parts A and B). ADRB3:rs4994 variants were identified by the sequencing of genomic DNA extracted from buccal swabs. (urotoday.com)

Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. (nih.gov)
Alternatively spliced transcript variants have been observed for this gene. (utsouthwestern.edu)

The lifetime incidence of severe liver disease alone appears to be approximately 9% (95% confidence interval: 2.6-15.3%) of male HFE C282Y homozygotes of European ancestry based on data from prospective cohort studies. (cdc.gov)
The implication of the finding that almost 1 in 10 male C282Y homozygotes is likely to develop severe liver disease in the absence of presymptomatic detection is that widespread detection could avert considerable numbers of premature deaths in populations of predominantly European ancestry. (cdc.gov)
About 85% of persons with well-established hemochromatosis are homozygous for the C282Y variant (type 1a hemochromatosis). (mhmedical.com)
The C282Y gene variant and hemochromatosis are uncommon in Black and Asian American populations. (mhmedical.com)

The variant arose on two founder haplotypes and results in significantly reduced EMC10 RNA expression and an unstable truncated EMC10 protein. (nih.gov)
People with a variant in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. (medlineplus.gov)
most notable is SNP TCF7L2 rs7903146-the variant most significantly associated with T2DM to date. (medscape.com)
In conclusion, our results suggested that HMGB1 variants are significantly inversely associated with EGFR mutations among NSCLC patients who smoked. (jcancer.org)

Populations that have undergone recent bottlenecks are also characterized by an excess of mildly deleterious variants, which are derived from rare variants that stochastically increased in frequency after a bottleneck event 4 . (nature.com)
The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. (plos.org)
Variants (also known as mutations) in the MSTN gene cause myostatin-related muscle hypertrophy. (medlineplus.gov)
CFTR variants can involve frameshift (a deletion or insertion in a DNA sequence that shifts the way a sequence is read) or nonsense (stop) mutations. (msdmanuals.com)

We use these results to find many known Mendelian variants whose inheritance cannot be adequately described by a conventional definition of dominant or recessive. (nature.com)
In particular, we find variants that are known to cause diseases with recessive inheritance with significant heterozygous phenotypic effects. (nature.com)
Identifying variants that influence disease risk only in the homozygous state (recessive inheritance) is particularly challenging, as the square of variant frequencies means that the homozygous state is often exceedingly rare. (nature.com)

We identified 7 different variants in IDH3A in 4 unrelated families, that is, 5 missense, 1 nonsense, and 1 frameshift variant. (nih.gov)
In seven families, we identified 13 individuals with highly overlapping phenotypes who harbor a single identical homozygous frameshift variant in EMC10. (nih.gov)
We assessed the effect of the frameshift variant on EMC10 RNA and protein expression and evaluated EMC10 expression in normal human brain tissue using immunohistochemistry. (nih.gov)

A homozygous variant EMC10 c.287delG (Refseq NM_206538.3, p.Gly96Alafs*9) segregated with affected individuals in each family, who exhibited a phenotypic spectrum of intellectual disability (ID) and global developmental delay (GDD), variable seizures and variable dysmorphic features (elongated face, curly hair, cubitus valgus, and arachnodactyly). (nih.gov)
Using whole-exome sequencing, we identified a homozygous variant in RAD51B -(c.92delT) in two sisters with POI. (nature.com)

Scientists reported the preliminary findings at the International Conference on Alzheimer's Disease (ICAD) held 10-15 July in Honolulu, Hawaii, along with other data showing that the Tomm40 length variants also correlate with brain atrophy and cognition in asymptomatic middle-aged people. (alzforum.org)
The absence of the HLA-C*04:01 variant predicts asymptomatic course of the disease for the majority of the population, while homozygote carriage of this variant disrupts the recognition of coronavirus by the immune-competent cells and impedes the formation of an adequate immune response in time. (sci.am)

Here we examine the homozygous and heterozygous effects of 44,370 coding variants on 2,444 disease phenotypes using data from the nationwide electronic health records of 176,899 Finnish individuals. (nature.com)
Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5. (cdc.gov)

An uncommon juvenile-onset variant that is characterized by severe iron overload, cardiac dysfunction, hypogonadotropic hypogonadism, and a high mortality rate is usually linked to a variant gene on chromosome 1q designated HJV that produces a protein called hemojuvelin (type 2a) or, rarely, to a variant of the HAMP gene on chromosome 19 that encodes hepcidin (type 2b). (mhmedical.com)

The 4 oldest SLITRK6 c.1240C>T homozygotes had absent ipsilateral middle ear muscle reflexes (MEMRs). (harvard.edu)

Using exome, genome, and Sanger sequencing, a recurrent frameshift EMC10 variant was identified in affected individuals in an international cohort of consanguineous families. (nih.gov)
We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. (plos.org)
We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants. (plos.org)
In a retrospective study, we apply PVP to the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism, and find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants. (plos.org)

Moreover, the findings demonstrate that in these variants, folding efficiency does not correlate directly with the tendency to polymerise in vitro or in vivo. (bbk.ac.uk)

Single nucleotide polymorphism microarrays were used to map the chromosome locus, and Sanger sequencing or high-resolution melt analysis were used to confirm the allelic variant. (harvard.edu)

We address the problem of how to distinguish which of the many thousands of DNA sequence variants carried by an individual with a rare disease is responsible for the disease phenotypes. (plos.org)
Many methods are currently available to help with the problem of determining causative variant, using information about evolutionary conservation and prediction of the functional consequences of the sequence variant. (plos.org)

Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. (plos.org)

We reviewed the medical history of individuals carrying IDH3A variants and performed additional ophthalmic examinations, including full-field electroretinography, fundus photography, fundus autofluorescence imaging, and optical coherence tomography. (nih.gov)
Individuals with variants of cytochrome c oxidase assembly factor 7 ( COA7 ), a mitochondrial functional-related gene, exhibit symptoms of spinocerebellar ataxia with axonal neuropathy before the age of 20. (biomedcentral.com)

If the results hold up, they could explain why some ApoE3/E3 homozygotes, a supposedly risk-neutral group, have LOAD risk that parallels that of E4 carriers, and may improve stratification of participants in future clinical trials. (alzforum.org)
Puzzling over these findings, which were reported last fall at the Clinical Trials on Alzheimer's Disease meeting in Las Vegas (see ARF conference story ), the researchers recalled the recent buzz over Tomm40 and wondered whether Tomm40 length variants might help tease out the differences they had seen related to family history. (alzforum.org)
A third gene variant (S65C) may lead to increased serum iron and ferritin levels without clinical significance (type 1c). (mhmedical.com)
Diagnosis is by sweat test or identification of 2 cystic fibrosis-causing gene variants in patients with a positive newborn screening test result or characteristic clinical features. (msdmanuals.com)
However, there is no strict relationship between specific variants and disease manifestation, so clinical testing (ie, of organ function) rather than genotyping is a better guide to prognosis. (msdmanuals.com)

Our results show how biobanks, particularly in founder populations, can broaden our understanding of complex dosage effects of Mendelian variants on disease. (nature.com)
Remarkably, the recurrent variant is likely the result of a hypermutable site and arose on distinct founder haplotypes. (nih.gov)
Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoB R3500Q ) is reported in 12% of the Pennsylvania Amish community. (clinicforspecialchildren.org)

Among them, variants at 4q25, located upstream of PITX2 , far exceeded the preset threshold for genome-wide significance and demonstrate strong association with AF in both Europeans and Japanese popupations. (nature.com)

Protein misfolding cyclic amplification (PMCA) of peripheral tissues from patients with variant Creutzfeldt-Jakob disease (vCJD). (cdc.gov)
PMCA substrate was prepared by using brains from transgenic mice overexpressing the ARQ variant of sheep prion protein. (cdc.gov)
The HFE protein is thought to play an important role in the process by which duodenal crypt cells sense body iron stores, and the variant gene leads to increased iron absorption from the duodenum. (mhmedical.com)
The CFTR variants have been divided into six classes based on how the variant affects the function or processing of the CFTR protein. (msdmanuals.com)

Approximately 145,000 babies were screened for penetrant variants only, and another 220,000 for both penetrant variants and compound heterozygosity for a penetrant variant with V37I. (cdc.gov)

We measured serum levels and compared complement activity in low-producing homozygotes ("B/B," "C/C") to HYA/HYA controls. (escholarship.org)
MBL2 variants predicted serum levels and complement activation as expected. (escholarship.org)

Accordingly, Rad51b-c.92delT variant reduced replication fork progression of patient-derived lymphoblastoid cell lines and pluripotent reprogramming efficiency of primary mouse embryonic fibroblasts. (nature.com)

In Poland, a single missense variant of CDKN2A (an alanine to threonine substitution at codon 148: A148T) is present in approximately 3% of the general population. (bmj.com)
These 4 patients were infected with prions containing methionine at codon 129 of the PRNP gene (homozygote). (cdc.gov)
Nous avons donc étudié l'association de deux polymorphismes - R353Q au niveau du codon 353 intervenant sur la région catalytique et le polymorphisme d'insertion de 10 paires de bases (pb) impliquant la région du promoteur - avec les taux de FVIIc chez 176 Tunisiens en bonne santé. (who.int)

In vitro studies revealed that this variant leads to translation reinitiation at methionine 64. (nature.com)

We evaluated MBL2 variants known to influence MBL levels with pediatric influenza-related critical illness susceptibility and/or severity including with bacterial co-infections. (escholarship.org)
We found no association between influenza-related critical illness susceptibility and MBL2 variants using family trios (633 biologic parents) or compared to population controls. (escholarship.org)
MBL2 variants that decrease MBL levels were not associated with susceptibility to pediatric influenza-related critical illness or with multiple measures of critical illness severity. (escholarship.org)

1 ) identified a common variant in fat mass-and obesity-associated ( FTO ) gene (rs9939609) that was related to higher BMI in both children and adults. (diabetesjournals.org)

These demonstrated that native Ala336Pro α1-antitrypsin could populate the polymerogenic intermediate - and therefore polymerise - more readily than either wild-type α1-antitrypsin or the Z variant. (bbk.ac.uk)

Variants that reduce the production of functional myostatin lead to an overgrowth of muscle tissue. (medlineplus.gov)
These factors combined indicate a 85-95% functional deficiency, similar to that seen with ZZ homozygotes. (bbk.ac.uk)

To determine whether this variant also predisposes to breast cancer. (bmj.com)

MBL2 variants were not associated with admission illness severity, septic shock, ALI, or bacterial co-infection diagnosis. (escholarship.org)

To date, lots of studies regarding gene variants that may alter response and tolerability to chemotherapy drugs have been carried out, including both retrospective and perspective studies. (hindawi.com)
The studies of the Dibuvcaine inhibition of subjects showed that there were cholinesterase variants in the Kurunegala and Kegalle districts. (who.int)

Variants in this gene are associated with auditory neuropathy spectrum disorder, where infants may have congenital PHL missed by otoacoustic emission screening. (cdc.gov)

Johnson focused on E3 homozygotes because of their curious bimodal distribution on AD risk charts. (alzforum.org)
H63D homozygotes do not develop hemochromatosis but may be at increased risk for amyotrophic lateral sclerosis, and carriers may be at increased risk for non-cardia gastric cancer. (mhmedical.com)

Similarly, we find presumed benign variants with disease effects. (nature.com)
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. (ouhsc.edu)
Disease manifests only in homozygotes. (msdmanuals.com)

We sequenced MBL2 "low-producer" variants rs11003125("H/L"), rs7096206("Y/X"), rs1800450 Gly54Asp ("B"), rs1800451 Gly57Glu ("C"), rs5030737 Arg52Cys ("D") in patients and biologic parents. (escholarship.org)

[ 16 ] Potential mechanisms through which TCF7L2 variants influence T2DM include its role in adipogenesis, myogenesis, and pancreatic islet development, as well as in beta-cell survival and insulin secretory granule function. (medscape.com)

Anatomy9

Organisms8

Diseases34

Chemicals and Drugs74

Analytical, Diagnostic and Therapeutic Techniques and Equipment40

Psychiatry and Psychology2

Phenomena and Processes83

Disciplines and Occupations2

Information Science5

Named Groups7

Health Care15

Geographicals5

Heterozygotes7

Pathogenic6

Allele6

Genes4

Missense variants1

Genetic10

Biochemical1

Genotype4

Phenotype2

Genomic1

Transcript variants2

C282Y4

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Frequency2

Mutations3

Recessive3

Frameshift variant3

Homozygous variant2

Asymptomatic2

Heterozygous2

Severe1

Absent1

Exome4

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Chromosome1

Sequence2

Computational1

Individuals2

Clinical5

Founder3

Genome1

Protein4

Compound1

Serum2

Patient1

Codon3

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