Genotype homozygotes. Medical search. Frequent questions

The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)
Patients treated with this class of medications, including ADUHELM, who are ApoE ε4 homozygotes have a higher incidence of ARIA, including symptomatic and serious ARIA, compared to heterozygotes and noncarriers. (nih.gov)
Risk of ARIA, including symptomatic ARIA, was increased in apolipoprotein E ε4 homozygotes compared to heterozygotes and noncarriers. (nih.gov)
Genotype analysis divided the patients with cystic fibrosis into three groups: AF508 homozygotes, AF508 heterozygotes and others. (portlandpress.com)
RESULTS: MnSOD genotype distributions were 27% CC (wildtype homozygotes), 50% CT (heterozygotes) and 23% TT (variant homozygotes). (cdc.gov)
Among these patients, there were 54 wild-type homozygotes (AA), 53 heterozygotes (AG) and 21 mutant homozygotes (GG). (spandidos-publications.com)
The allelic discrimination (AD) scatterplots you generate should discriminate between homozygotes and heterozygotes for your SNP, clearly illustrating the prevalence and distribution of the SNP in your sample set. (thermofisher.com)
If the SNP of interest has a high MAF, the plot should show three distinct clusters from your samples-one for minor allele homozygotes, one for major allele homozygotes, and one for heterozygotes. (thermofisher.com)
Allele 1 homozygotes (Allele 1/Allele 1) are clustered in red in the bottom right corner, Allele 2 homozygotes (Allele 2/Allele 2) are clustered in dark blue in the top left corner, and heterozygotes (Allele 1/Allele 2) are clustered in green in the middle of the plot. (thermofisher.com)
In this example, there are 40 experimental samples in total, including eighteen Allele 1 homozygotes, six Allele 2 homozygotes, and sixteen heterozygotes. (thermofisher.com)
As the COI increases, the proportion of heterozygotes ( Aa ) decrease while the homozygotes ( AA and aa ) increased. (ashgi.org)
APOE ε2 homozygotes, but not APOE ε2 heterozygotes, showed larger GM volumes in areas related to successful aging. (lu.se)
With the exception of the extremely a computer simulation, we investigated rare mutations, only those individuals the effect on the population disease born to 2 gene carriers (heterozygotes or gene frequency and the frequencies of homozygotes) may develop thalassaemia heterozygous and homozygous individuals major. (who.int)

If both alleles are the same, the genotype is referred to as homozygous. (wikipedia.org)
There are three available genotypes, PP (homozygous dominant), Pp (heterozygous), and pp (homozygous recessive). (wikipedia.org)
The increase in resting metabolic rate in patients homozygous for mutations involving a nucleotide-binding fold, which may result from a disruptive effect on ATP binding, indicates a practical implication of genotype identification with the need for effective nutritional intervention and support in this patient subgroup. (portlandpress.com)
We find associations for homozygous genotypes across a broad spectrum of phenotypes, including known associations with retinal dystrophy and novel associations with adult-onset cataract and female infertility. (nature.com)
Among females, there was four-fold higher penetrance among subjects homozygous for the wild-type genotype (N/N) than those with N/S or S/S genotypes (p = 0.005). (ersjournals.com)
From 189 healthy volunteers who were genotyped for CYP2C9 polymorphisms, 11 control subjects ( CYP2C9 * 1/ * 1 ), 9 heterozygous and 2 homozygous for the CYP2C9 * 3 allele participated in the pharmacokinetic drug interaction study. (aspetjournals.org)
[ 7 ] This high frequency rate was supported by Bulaj et al who published reports indicating that 52% of males older than 52 years and 16% of females older than 50 years with the homozygous genotype had at least one "disease-related condition. (medscape.com)

The odds ratio in homozygotes for the e4 allele was 11.24 (95% confidence interval 2.45-51.50). (bmj.com)
Allele 1 homozygotes are clustered in red in the bottom right corner. (thermofisher.com)
Allele 2 homozygotes are clustered in dark blue in the top left corner. (thermofisher.com)
Assuming you are sampling a large population with no natural selection or mutations and the SNP resides on an autosomal chromosome, SNP genotyping data should follow the Hardy-Weinberg equilibrium, a distribution equation that describes the allele frequencies in a population, and therefore the clusters in an AD scatterplot. (thermofisher.com)

A more technical example to illustrate genotype is the single-nucleotide polymorphism or SNP. (wikipedia.org)
If you are new to single nucleotide polymorphism (SNP) genotyping experiments, you may be struggling with how to interpret your data. (thermofisher.com)

dominant homozygote (KLKL), heterozygote (KLKh), and recessive homozygote (KhKh). (academicjournals.org)

Genotypes for CYP1B1 Asn453Ser ( N453S ) were determined for 140 BMPR2 mutation carriers (86 females and 54 males). (ersjournals.com)
In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. (kb.se)
In this study we combined the amplification refractory mutation system (ARMS) with standard fluorescent based fragment length analyses method to develop a prnp genotyping method (PRNP ARMS). (biomedcentral.com)
It provides an efficient and inexpensive diagnostic mutation analysis that will improve the quality of prnp genotyping compared with other low-cost methods. (biomedcentral.com)

Genotype contributes to phenotype, the observable traits and characteristics in an individual or organism. (wikipedia.org)
The degree to which genotype affects phenotype depends on the trait. (wikipedia.org)
Genotype and phenotype are not always directly correlated. (wikipedia.org)
The genotype is commonly mixed up with the phenotype which describes the end result of both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or various hereditary diseases). (wikipedia.org)
A simple example to illustrate genotype as distinct from phenotype is the flower colour in pea plants (see Gregor Mendel). (wikipedia.org)
All three have different genotypes but the first two have the same phenotype (purple) as distinct from the third (white). (wikipedia.org)
Penetrance is the proportion of individuals showing a specified genotype in their phenotype under a given set of environmental conditions. (wikipedia.org)
Referenced article focusing on the relationship between phenotype and genotype. (cancerindex.org)
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)
We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)
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)

Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. (wikipedia.org)
This contains two alleles : C and T. SNPs typically have three genotypes, denoted generically AA Aa and aa. (wikipedia.org)
Other types of genetic marker, such as microsatellites, can have more than two alleles, and thus many different genotypes. (wikipedia.org)
Sixty-nine healthy subjects were genotyped for the presence of the G and A (null) alleles in the CNTF gene (n = 57 G/G, 12 G/A). They were tested using a dynamometer during submaximal isometric knee extension contractions that were from 10-50% of their maximal strength. (umd.edu)

The cohort was too small to correct for ApoE genotype, Caselli noted, but the earlier age of onset in the long/longs did hold for both ApoE3/4 (n = 10) and ApoE3/3 (n = 11) subgroups. (alzforum.org)
Methods: Multicenter brain magnetic resonance images (MRIs) from cognitively unimpaired ε2 homozygotes were matched (1:1) against all other APOE genotypes for relevant confounders (n = 223). (lu.se)
Discussion: In addition to the known resistance against amyloid-β deposition, the larger GM volumes in key brain regions may confer APOE ε2 homozygotes additional protection against AD-related cognitive decline. (lu.se)
Alteration of Blood Immune Biomarkers in MCI Patients with Different APOE Genotypes after Cognitive Training: A 1 Year Follow-Up Cohort Study. (cdc.gov)
Habitual glucosamine use, APOE genotypes, and risk of incident cause-specific dementia in the older population. (cdc.gov)
Age and sex differences in the association between APOE genotype and Alzheimer's disease in a Taiwan Chinese population. (cdc.gov)

Subjects with R/R genotype had significantly higher FVIIc levels than Q353 heterozygote and homozygote subjects (96.36 versus 59.52). (who.int)

The possible genotypes of the offspring can then be determined by combining the parent genotypes. (wikipedia.org)

We performed genotyping of 19 single nucleotide polymorphisms (SNPs) by Sequenom MassARRAY. (hindawi.com)
in individuals of the CYP2C9 * 1/ * 1, * 1/ * 3 , and * 3/ * 3 genotypes to characterize the magnitude of the drug interaction in subjects with different CYP2C9 polymorphisms. (aspetjournals.org)
The impor- objectives of determining the frequencies tance of FVII in normal haemostasis is il- of these gene polymorphisms in the popula- lustrated by the severe bleeding diathesis tion and clarifying the genotype association associated with low plasma levels of the of the R353Q and 0/10 bp insertion poly- protein [ 3 ]. (who.int)
Therefore, the demand on genotyping capacities of the polymorphisms of the prion protein gene ( prnp ) relevant to presently known disease associations and EU regulations is steadily increasing. (biomedcentral.com)

The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
Susceptibility to scrapie is largely controlled by three polymorphic amino acid positions (136, 154, 171) of the ovine prion protein gene ( prnp ) [ 4 ] and reliable genotyping of the corresponding DNA polymorphism is required as a basis for selection decisions. (biomedcentral.com)

0.3 in the univariate analysis were included in the analysis for investigating the additive effects of the genotypes and work place on risk of cataract. (molvis.org)

The Apo E genotype of 86 patients with Alzheimer's disease (AD) and 77 age matched controls was determined by digestion of Apo E PCR products with the restriction enzyme CfoI. (bmj.com)

Genotyping was performed in 239 ccRCC patients and 350 matched controls, while plasma levels of 8-hydroxy-2'-deoxyguanosine (8-OHdG), a biomarker of oxidative DNA damage, were determined by ELISA. (cancerindex.org)
Prior to testing, prescribers should discuss with patients the risk of ARIA across genotypes and the implications of genetic testing results. (nih.gov)
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)

These data were recapitulated in vivo, where G/G homozygotes had significantly higher resistin mRNA levels in human abdominal subcutaneous fat. (diabetesjournals.org)

The GSTM1 , GSTT1 , and GSTO2 genotypes were determined using polymerase chain reaction (PCR) based methods. (molvis.org)
The prevalence of GSTT1 and GSTO2 genotypes was similar between cases and controls. (molvis.org)

Conversely, some phenotypes could be the result of multiple genotypes. (wikipedia.org)
The kalemic systems in those breeds were characterized by a polymorphism of middle level due to the existence of the two phenotypes and of three genotypes. (academicjournals.org)

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)
Nine thousand three hundred and ninety-six subjects (3367 men, aged 25-40 years, and 6029 women, aged 35-50 years), attending three Health Appraisal Centres, were genotyped and assessed with respect to clinical and biochemical signs of haemochromatosis. (nih.gov)
Aim: To observe the clinical presentation in relation to the genotype among subjects with clinical suspect of NC-HAC. (endocrine-abstracts.org)
C282Y homozygotes account for up to 90% of clinical cases of hereditary hemochromatosis. (medscape.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)

The aims of this study were: (i) to determine the range of variability in resting metabolic rate in cystic fibrosis, (ii) to relate this to pulmonary function and body size, and (iii) to investigate the hypothesis that, in cystic fibrosis, genotype exerts a significant influence on energy requirements. (portlandpress.com)

C and D) Representative results of PCR genotyping for FVB (C) and C57BL/6 (D) strains of WT and p16Ink4a KO mice. (koreamed.org)

Les sujets ayant un génotype R/R avaient une concentration en FVIIc significativement plus élevée que les sujets hétérozy- gotes et homozygotes porteurs de l'allèle Q353 (96,36 vs 59,52). (who.int)

C and D) Representative results of PCR genotyping for FVB (C) and B6 (D) strains of WT and p19Arf KO mice. (koreamed.org)

Previous in vitro work has demonstrated that genotype-dependent inhibition of CYP2C9 mediated flurbiprofen metabolism, suggesting the possibility of genotype-dependent inhibition interactions in vivo. (aspetjournals.org)

As a result, combined effect of all three variant genotypes exhibited almost 3-fold risk of RCC development. (cancerindex.org)

Here we present a brief description of the theoretical bases that drives our research in the evolutionary psychobiology of sports and illustrate preliminary data on the relationship between the 5HTTLPR genotype, salivary cortisol, temperament and competition. (springer.com)

Results were validated in 135 homozygotes detected through other family and population studies. (nih.gov)

In the current study, flurbiprofen was used as a probe substrate and fluconazole as a prototypical inhibitor to investigate whether genotype-dependent inhibition of CYP2C9 occurs in vivo. (aspetjournals.org)

The purpose of this study is to examine whether CNTF genotype differentially affects motor unit activation in the vastus medialis with increasing isometric force during knee extension. (umd.edu)

TT and CT genotypes compared to the CC genotype were not associated with all-cause or cardiovascular disease mortality. (cdc.gov)
Disease manifests only in homozygotes. (msdmanuals.com)

Moreover, AT/AT homozygotes were significantly less frequent in the cancer population than would be expected under the Hardy?Weinberg hypothesis (P = 0.0099). (tcd.ie)

There was no relationship between age of onset and Apo E genotype. (bmj.com)

If aa is the genotype for an unwanted trait, the number of dogs exhibiting that trait will have increased because of inbreeding. (ashgi.org)

A total of 189 healthy subjects were enrolled in the genotype screening phase of the study. (aspetjournals.org)

Since all tobacco products share the ability of stimulating the dopaminergic reward system, variation in the DRD2 genotype might be associated with waterpipe smoking addiction. (who.int)

A slight, but non-statistically significant higher risk of cancer mortality was observed for the CT (HR=1.13, 95% CI: 0.86-1.49) and TT (HR=1.24, 95% CI: 0.90-1.70) genotypes compared to CC genotype (p-trend=0.19). (cdc.gov)
The CNTF G/A genotype was associated with smaller SMUP area motor units and lower mFR at higher force levels, and fewer but larger units at lower force levels than G/G homozygotes. (umd.edu)

Johnson focused on E3 homozygotes because of their curious bimodal distribution on AD risk charts. (alzforum.org)
The null genotype of GSTM1 increased the risk of cataract (OR=1.51, 95%CI: 1.01-2.26, p=0.045). (molvis.org)

Moreover, they indicate an association between the 5HTTLPR polymorphism and pre-competition salivary cortisol, thus providing a preliminary but non-conclusive evidence on the role played by the 5HTTLPR genotype as a vulnerability factor in sport competition. (springer.com)

Differential motor unit responses were observed between CNTF genotypes at force levels utilized in daily activities. (umd.edu)

84 cases of oesophageal cancer (25 squamous and 59 adenocarcinoma) and 152 normal population controls were genotyped for this polymorphism. (tcd.ie)

However, the effect of this genotype on gray matter (GM) volume in cognitively unimpaired individuals has not yet been described. (lu.se)
The effect of CNTF on nerve development suggests that CNTF genotype may be associated with force production via its influence on motor unit size and firing patterns. (umd.edu)

Not all individuals with the same genotype look or act the same way because appearance and behavior are modified by environmental and growing conditions. (wikipedia.org)

B) A representative result of PCR genotyping for B6 strain of WT and p27Kip1 KO mouse. (koreamed.org)

Cox regression analysis was used to assess overall survival (OS) and progression-free survival (PFS) among SNP genotypes. (hindawi.com)
Analysis of fractional clearances suggested that the fraction metabolized by CYP2C9, as influenced by genotype, determined the degree of drug interaction observed. (aspetjournals.org)

CNTF genotyping was performed using standard PCR techniques from DNA obtained from leucocytes of whole blood samples. (umd.edu)

Anatomy3

Organisms11

Diseases33

Chemicals and Drugs71

Analytical, Diagnostic and Therapeutic Techniques and Equipment48

Psychiatry and Psychology3

Phenomena and Processes75

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena2

Technology, Industry, Agriculture1

Information Science6

Named Groups7

Health Care29

Geographicals10

Heterozygotes13

Homozygous7

Allele4

Single-nucleotide p2

Recessive1

Mutation4

Phenotype11

Alleles4

ApoE6

Heterozygote1

Possible genotypes1

Polymorphisms4

Gene2

Additive1

Alzheimer's1

Patients3

Significantly higher1

GSTO22

Phenotypes2

Clinical5

Cystic fibrosis1

C57BL1

Porteurs1

Mice1

Metabolism1

Variant1

Illustrate1

Results1

Vivo1

Affects1

Disease2

Frequent1

Onset1

Trait1

Subjects1

Variation1

Higher2

Risk2

Preliminary1

Levels1

Population1

Effect2

Individuals1

Result1

Analysis2

Samples1