Occurrence polymorphism genetic. Medical search. Frequent questions

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation, and participate in carcinogenesis. (jcancer.org)
Genotyping of 20 Single Nucleotide Polymorphisms (SNPs), divided in two groups, was performed by multiplex minisequencing preceded by multiplex PCR. (biomedcentral.com)
Other seven genetic polymorphisms different from SNPs (deletions, insertions, tandem repeat, null genotype) were achieved by a multiplex-PCR. (biomedcentral.com)
We utilized polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to genotype these four single nucleotide polymorphisms (SNPs). (biomedcentral.com)
Associations of DPP9 with human liver cancer, exonic single nucleotide polymorphisms (SNPs) in DPP9 and loss of function (LoF) variants have not been explored. (preprints.org)
Genetic variants in TLR3 were determined by polymerase chain reaction (PCR)-based DNA direct sequencing and four SNPs were genotyped in all samples. (biomedcentral.com)
The vitamin D level was genetically calculated based on three single nucleotide polymorphisms (SNPs: rs12794714, rs7944926 and rs2282679) which alter vitamin D synthesis pathways. (uni-luebeck.de)
Next generation sequencing platform will be used to establish Pfkelch13 Single nucleotide polymorphisms (SNPs) and genetic background mutations (fd, arps10, mdr2 and crt) in P. falciparum parasites. (who.int)

The presence of individual genes (polymorphism) on particular symptoms and processes in ADHD are not known. (nel.edu)
In addition, we discuss reports on the interactions of OXT and AVP receptor genes and genes involved in other pathways (such as those of dopamine, serotonin, and reelin), as well as research that has shed some light on the impact of gene polymorphisms on the volume, connectivity, and activation of specific neural structures, differential receptor expression, and plasma levels of the OXT and AVP peptides. (frontiersin.org)
Since NAION may occur when compromised watershed microcirculation is combined with insufficient autoregulation of systematic circulation, polymorphisms of genes involved in systematic circulation, such as the RAAS genes, may be associated with NAION occurrence. (molvis.org)
The renin-angiotensin system genes exhibit three common polymorphisms: the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme ( ACE ) gene, the M235T polymorphism of the angiotensinogen gene ( AGT ), and the A1166C polymorphism of the angiotensin II type 1 receptor gene ( AT1-receptor ). (molvis.org)
In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion ( TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. (diabetesjournals.org)
Polymorphisms in DNA damage repair genes are important determinants for cancer susceptibility, clinical phenotype diversity, and therapy. (jcancer.org)
The matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectroscopy-based genotyping system was used to genotype 601 individuals (200 lung cancer patients and 401 age- and sex-matched healthy controls) for polymorphisms in excision repair cross-complementing group 1 ( ERCC1 ) and ERCC5 genes. (jcancer.org)
ERCC5 rs4771436 and rs1047768 genotypes were associated with an increased risk of lung cancer, suggesting that polymorphisms in DNA repair genes are significantly related to the risk of lung cancer, and play an important role in the occurrence of lung cancer. (jcancer.org)
Polymorphisms of genes for GST are linked with change of enzyme activity of GST that results in decreasing of detoxification ability and change of individual susceptibility to prostate carcinoma. (amedi.sk)
Folate metabolism, which depends on genes variations and diet, is directly involved in genetic and epigenetic variations that can influence the changes of last growing period of development in human and the appearance of the TMD. (biomedcentral.com)
The objective of this study was to evaluate the association between response to antiemetics in the treatment of NVP and genetic polymorphisms in the serotonin receptor subunit genes HTR3A and HTR3B . (biomedcentral.com)
Genetic polymorphisms in these genes may be associated with the occurrence of osteonecrosis. (biomedcentral.com)

We examined the association of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene, of the M235T polymorphism of the angiotensinogen gene, and of the A1166C polymorphism of the angiotensin II type 1 receptor gene with NAION. (molvis.org)
NAION occurrence was not associated with the M235T polymorphism of the angiotensinogen gene and the A1166C polymorphism of the angiotensin II, type 1 receptor gene. (molvis.org)

Sheppard found that the polymorphism is maintained by selective mating: each genotype preferentially mates with other morphs. (wikipedia.org)
Regarding the angiotensin-converting enzyme insertion/deletion polymorphism, our findings suggest that the II genotype could be a risk factor for NAION in younger male patients when compared to all cases and controls (p=0.033, odds ratio=5.71, confidence interval=1.152¨C28.35 and p=0.03, odds ratio=5.33, confidence interval=1.17¨C24.31 respectively). (molvis.org)
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor? (nih.gov)
Groups were compared on clinical and laboratory characteristics as well as allele and genotype distribution towards ApoE polymorphism. (biomedcentral.com)

Recently, multiple mutations in gamma 2 subunit of GABA receptors are discovered in two families which furnished the genetic evidence for possible role of GABA receptor system in epileptogenesis. (hindawi.com)
Moreover, there was a difference in the genetic mutations between high-risk and low-risk patients distinguished by the four-DNA methylation model, which can provide information for clinical treatment. (aging-us.com)
Because garlic is an agamic propagated species, its breeding is based on the occurrence of plants with desirable traits, which are attributed to genetic mutations. (conicet.gov.ar)
Polymorphisms begin as mutations. (msdmanuals.com)
Mutations (including polymorphisms) involve random changes in DNA. (msdmanuals.com)

that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation. (nih.gov)
Different effects of maternal homocysteine concentration, MTHFR and MTRR genetic polymorphisms on the occurrence of fetal aneuploidy. (cdc.gov)

Idiopathic generalized epilepsy is the most common category of epilepsy with nonfocal mechanism of onset and no external cause or no cause beyond genetic predisposition according to the current definition [ 4 ]. (hindawi.com)
Obese children and adolescents developing IGT/T2D have a higher genetic predisposition than those who do not show these diseases, and this predisposition is mainly related to gene variants modulating the early phase of insulin secretion. (diabetesjournals.org)
Genetic predisposition, dietary factors, life style as well as environmental conditions may influence the risk of development of prostate carcinoma. (amedi.sk)
Since standard vitamin D supplementation might be not sufficient in preterm infants with a genetic predisposition for vitamin D deficiency, we investigated the outcome of preterm infants with regard to their genetic estimated vitamin D levels. (uni-luebeck.de)

The purpose of this case-control research is to determine if GABRG2 polymorphisms contribute to IGE susceptibility and antiepileptic drug resistance in Pakistani population. (hindawi.com)
Large-scale, multicentered, controlled prospective studies are needed to further explore the effects of RAAS polymorphisms or other genetic factors on NAION susceptibility. (molvis.org)
A polymorphism may be associated with susceptibility to osteonecrosis in Chinese population. (biomedcentral.com)
Nasopharyngeal carcinoma is endemic in Southern China, displays a strong relationship with genetic susceptibility and associates with Epstein-Barr virus infection. (biomedcentral.com)
Therefore, we examined the association between TLR3 gene polymorphisms and NPC susceptibility. (biomedcentral.com)
The TLR3 polymorphisms may be relevant to NPC susceptibility in the Cantonese population, although the reduction in NPC risk is modest and the biological mechanism of the observed association merits further investigation. (biomedcentral.com)
Once ApoE polymorphism may influence lipid metabolism, it is possible that it brings on individual susceptibility consequences for the development of MetS and cardiovascular risk. (biomedcentral.com)

Previous studies suggested that Apolipoprotein AI (ApoAI) and apolipoprotein B (ApoB) gene polymorphisms may result in lipid metabolism disorders. (biomedcentral.com)

Polymorphism occurs both at a specific level with heritable variation in the overall morphological design of individuals as well as in certain specific morphological or physiological traits within a species. (wikipedia.org)
The possibilities of screening workers for genetic traits that may place them at unusual risk in the work environment or evaluating genetic material from workers for evidence of the adverse effects of occupational exposures were considered. (cdc.gov)
A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)
Recently, polymorphisms (the occurrence of two or more genetically determined characteristics or traits in a certain population) in the solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2) gene have emerged as a potential genetic risk factor for ET in a genome-wide association study in Europe. (essentialtremor.org)

AIH usually develops in individuals with a genetic background mainly consisting of some risk alleles of the major histocompatibility complex (HLA). (wjgnet.com)
Specific alleles of these polymorphisms are validated markers for low plasma vitamin D levels. (uni-luebeck.de)

Sex differences at the genetic/epigenetic level in early development. (ubc.ca)
In this work, we took advantage of a long term field experiment in a garlic line destined to genetic improvement to evaluate bulb weight and genetic and epigenetic stability and dynamics over 13 years. (conicet.gov.ar)
Using AFLP (Amplified Fragment Length Polymorphism) and MSAP (Methylation Sensitive Amplified Polymorphism) techniques, we assessed genetic and epigenetic stability in plants of A. sativum taken at first, third and 13th year of field culture. (conicet.gov.ar)
The application of selection pressure led to a reduction in genetic polymorphism and an increase of bulb weight, but did not influence epigenetic polymorphism, indicating that it is independent of genetic variability. (conicet.gov.ar)

By studying variations in Native American DNA sequences, the international team found that while most of the Native American populations arose from the first migration, two subsequent migrations also made important genetic contributions. (ucl.ac.uk)
In the most comprehensive survey of genetic diversity in Native Americans so far, the team took data from 52 Native American and 17 Siberian groups, studying more than 300,000 specific DNA sequence variations called Single Nucleotide Polymorphisms to examine patterns of genetic similarities and differences between the population groups. (ucl.ac.uk)
In fact, ApoE is the main constituent of tg-rich lipoprotein and genetic polymorphic variations of this protein has been associated with CVD occurrence. (biomedcentral.com)

Although a large body of research, ranging from rodents to humans, has reported on the effects of OXT and AVP administration on affiliative and trust behaviors, and has highlighted the genetic contributions of OXT and AVP receptor polymorphisms to both social behaviors and to diseases related to social deficits, the consequences of peptide administration on psychiatric symptoms, and the impact of receptor polymorphisms on receptor function, are still unclear. (frontiersin.org)
This review summarizes findings on the associations between OXT and AVP receptor polymorphism, social behavior, and psychiatric diseases. (frontiersin.org)
The A 1166 C polymorphism of the AT 1 receptor gene may be associated with cardiovascular phenotypes, such as high arterial blood pressure, aortic stiffness, and increased cardiovascular risk. (techscience.com)

Occurrence of familial spastic paraplegia in only one of monozygous twins. (bmj.com)
The observation of nonpenetrance in familial spastic paraplegia suggests that environmental factors may be involved in provocation and emphasises the need for careful genetic counselling in this and related diseases. (bmj.com)
A familial occurrence. (medscape.com)

Genetic variants in the vitamin D pathway affect vitamin D serum levels and, thus, atopy and asthma. (biomedcentral.com)
others, such as polymorphisms, are so common that they may be considered normal variants. (msdmanuals.com)

found a biallelic polymorphism (Ala−9Val) in the mitochondrial targeting sequence (MTS) of human MnSOD in a Japanese population and reported a significant positive association between the MnSOD allele and Parkinson's disease. (nature.com)

Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder]. (cdc.gov)

163 In Lepidoptera, polymorphism can be seen not only between individuals in a population but also between the sexes as sexual dimorphism, between geographically separated populations in geographical polymorphism and also between generations flying at different seasons of the year (seasonal polymorphism). (wikipedia.org)
Sexual dimorphism is the occurrence of differences between males and females in a species. (wikipedia.org)
In Lepidoptera, sexual dimorphism is widespread and almost completely determined by genetic determination. (wikipedia.org)
TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coincidental occurrence along the pubertal development. (biomedcentral.com)

Other selected metabolic polymorphisms associated with diseases included slow acetylator phenotype, microsomal oxidizing systems, and paraoxonase deficiency. (cdc.gov)
Haplotypes constructed from several single nucleotide variant (SNV) along a chromosome fragment may provide insight into any SNV near the fragment that may be genuinely associated with a phenotype in genetic association studies. (bvsalud.org)
Most polymorphisms are stable and do not noticeably change phenotype. (msdmanuals.com)

As such, pharmacogenetic polymorphisms become an important consideration in evaluating variability in responsiveness to pharmacologic intervention. (biomedcentral.com)
Although a significant portion of CVD in MetS may be explained by the presence of well-known risk factors, a significant proportion remains unexplained possibly due to individual genetic variability. (biomedcentral.com)

Abstract Essential hypertension is considered a multifactorial trait resulting from a combination of environmental and genetic factors. (techscience.com)
The geographical pattern of incidence suggests a unique interaction of environmental and genetic factors. (biomedcentral.com)
This disease is characterized by a chronic inflammation of lower airways that include complex pathophysiological mechanisms involving several pro-inflammatory cells and molecules, including different cytokine profiles that can change according to environmental and genetic factors [ 3 , 4 ]. (biomedcentral.com)

In this study, we investigated the genetic association of the MnSOD allele with schizophrenia and TD in a Japanese sample through case-control studies. (nature.com)
There was not a significant association between the occurrence of nematodes and season or altitude. (scielo.br)
Lan X, Li Y, Wu Y, Li X, Xu L. The Association of ERCC1 and ERCC5 Polymorphisms with Lung Cancer Risk in Han Chinese. (jcancer.org)
We investigated the association between this A 1166 C polymorphism and hypertension in hypertense and normotense subjects from San Luis (Argentina) by mismatch PCR-RFLP analysis. (techscience.com)
In this work we study the association between TMD and genetic polymorphisms of folate metabolism, neurotransmission, oxidative and hormonal metabolism. (biomedcentral.com)
To further clarify the association of ApoAI and ApoB genetic polymorphism and osteonecrosis, we designed a larger sample-size case-control study. (biomedcentral.com)
Galecki et al reported the association of a polymorphism of the manganese superoxide dismutase (MnSOD) gene and TD. (medscape.com)
Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans. (medscape.com)

Our findings showed that C588T polymorphism of GABRG2 is a risk variant for IGE in Pakistani population. (hindawi.com)
In this example, the OEM approach has been extended to treat genetic data with the figure presenting OEMs for two states of a single nucleotide polymorphism (SNP) that show a well-defined, high-risk subgroup for one of the SNP states and virtually no risk for the other SNP state. (rochester.edu)
OEM can therefore be used to predict whether patients who have already suffered heart attacks are at higher risk for a repeat occurrence. (rochester.edu)
This study aimed to investigate the role of DNA damage repair gene polymorphisms in the risk of lung cancer. (jcancer.org)
To estimate TMD risk, in those polymorphisms that shown significant differences, odds ratio (OR) with a 95% of confidence interval were calculated. (biomedcentral.com)
The objective of the study is to measure the discriminatory power of ApoE polymorphism in determining cardiovascular risk stratification based on the presence MetS in a cohort of hypertensive patients. (biomedcentral.com)
Identification of genetic markers has clinical relevance in this context, as for risk prediction as for adoption of therapeutic maneuvers. (biomedcentral.com)
Use of potent dopamine antagonists, prolonged exposure to dopamine antagonists, and prior occurrence of acute movement disorders on exposure to dopamine antagonists are also associated with an increased risk for the occurrence of acute movement adverse effects. (medscape.com)

NAION and control groups were compared in regard to the prevalence of renin-angiotensin-aldosterone system polymorphisms, and further stratified by age and gender. (molvis.org)

The DNA to investigate the polymorphisms of osteoprotegerin, obtained through the technique of polymerase chain reaction, was obtained from the blood serum of the participants. (bvsalud.org)

Edossa, F., Kassahun, T. and Endashaw, B. (2007) Genetic diversity and population structure of Ethiopian lentil (Lens culinaris Medikus) landraces as revealed by ISSR marker. (scirp.org)

The present study aimed to determine the frequency of occurrence of anti- T. gondii antibodies from free-range chickens in the South region of Brazil using the Modified Agglutination Test (MAT, titer ≥ 10), to isolate the parasite by mouse bioassay, and genotypically characterize the T. gondii isolates by PCR-Restriction Fragment Length Polymorphism (PCR-RFLP, 11 markers) and Microsatellite analysis (MS, 15 markers). (usp.br)

genetic techniques are necessary to evaluate the long -term effectiveness of these measures. (researchgate.net)
A case-control study was designed to evaluate the impact of genetic polymorphisms above described on TMD. (biomedcentral.com)

Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)

Conclusion Low genetic vitamin D level estimates could not be shown to be associated with previously described adverse outcome in preterm infants. (uni-luebeck.de)

A discontinuous genetic variation divides the individuals of a population into two or more sharply distinct forms. (butterflyspeciesgalleries.com)

The occurrence of acute movement disorders on exposure to dopamine antagonists is increased in female patients and older patients. (medscape.com)

Polymorphism is the appearance of forms or "morphs" differing in color and number of attributes within a single species. (wikipedia.org)
resulting in the occurrence of several different forms or types of individuals among the members of a single species. (butterflyspeciesgalleries.com)

With only a few exceptions, researchers have failed to adequately demonstrate the practical relevance of genetic polymorphism to the health of workers. (cdc.gov)

This species, and others in its genus, have been extensively studied for understanding the genetic basis for polymorphism and Batesian mimicry. (wikipedia.org)
Geographical polymorphism is where geographical isolation causes a divergence of a species into different morphs. (wikipedia.org)
The progression and outcome of Leishmania infection are influenced by various factors, including the cytokine milieu, the skin microbiota at the infection site, the specific Leishmania species involved, the genetic background of the host, and the parasite load. (bvsalud.org)

We detected changes in the amount of each methylation pattern (unmethylated, hemimethylated and internally methylated) among the different years analyzed while 82.47 and 19.61% of the genetic and epigenetical loci were stable during the time of culture. (conicet.gov.ar)

Six of the polymorphisms showed statistical associations with TMD. (biomedcentral.com)

The authors found C7623T polymorphism of ApoB gene was associated with osteonecrosis. (biomedcentral.com)
No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)

26 An even more dramatic showcase of geographical polymorphism is the Apollo butterfly (Parnassius apollo). (wikipedia.org)
HRJUDSKLF YDULDWLRQV LQ FDQFHU RFFXUUHQFH In many parts of the world a dramatic shift in cancer occurrence is observed. (who.int)

The interplay of genetic and environmental factors causes the majority of epilepsy manifestations [ 3 ]. (hindawi.com)
In recent years, in addition to environmental factors, genetic factors have become a hot spot in the etiology of lung cancer. (jcancer.org)
Among those individuals with MetS, dislipidemia and its consequences (coronary artery disease, stroke and others) are attributed to a conjunct and integrative action between genetic and environmental factors. (biomedcentral.com)

Brazil has one of the highest seroprevalence rates of Toxoplasma gondii in humans in the world, and one of the highest genetic diversities of the agent. (usp.br)

For this purpose, we genotyped exon2, exon5 ( C540T and C588T ), exon7 ( T813C ), exon8 ( K289M ), and exon9 of GABRG2 gene by restriction fragment length polymorphism and Sanger's sequencing in 87 drug-responsive idiopathic generalized epilepsy patients, 55 drug-resistant epilepsy patients, and 83 healthy controls. (hindawi.com)
It has a strong genetic component, as ET patients often have a family history of tremor, and twins with ET are highly concordant for disease status. (essentialtremor.org)
The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)

Data is available from 1939 to the present day, acquired by the usual field method of capture-mark-release-recapture and by genetic analysis from breeding in captivity. (wikipedia.org)
The team's analysis was complicated by the influx into the hemisphere of European and African immigrants since 1492 and the 500 years of genetic mixing that followed. (ucl.ac.uk)

Restriction fragment length polymorphism (RFLP) and sequencing results indicated only C588T polymorphism in the studied subjects. (hindawi.com)

Genetic monitoring of workers would search for cytogenetic indicators, effects of exposures on sperm, the presence of oncogenes, and noncytogenetic indicators. (cdc.gov)

ρ/θ estimates the relative frequency of occurrence of recombination and mutation in the history of the clade. (cdc.gov)
Low genetic vitamin D level estimates could not be shown to be associated with any adverse outcome measures examined. (uni-luebeck.de)

It is estimated that ADHD symptoms are up to 80% to genetic. (nel.edu)

Seasonal polyphenism in Eurema hecabe Environmental polymorphism, where genetic heritability plays no role, is often termed polyphenism. (wikipedia.org)

Anatomy2

Organisms2

Diseases20

Chemicals and Drugs71

Analytical, Diagnostic and Therapeutic Techniques and Equipment57

Psychiatry and Psychology1

Phenomena and Processes78

Disciplines and Occupations6

Anthropology, Education, Sociology and Social Phenomena2

Information Science10

Named Groups5

Health Care35

Geographicals22

SNPs8

Genes12

Angiotensin II type 1 receptor2

Genotype4

Mutations5

MTHFR2

Predisposition4

Susceptibility7

Lipid metabolism1

Traits5

Alleles2

Epigenetic4

Variations3

Receptor3

Familial3

Variants2

Mitochondrial1

Trisomy 211

Sexual dimorphism4

Phenotype3

Variability2

Environmental and genetic factors3

Association8

Risk8

Prevalence1

Polymerase1

Diversity1

Markers1

Evaluate2

Significance1

Conclusion1

Variation1

Disorders1

Single species2

Relevance1

Species3

Stable1

Statistical1

Found2

Dramatic2

Factors3

Brazil1

Patients3

Analysis2

Results1

Effects1

Estimates2

Symptoms1

Role1