Polymorphisms enzyme genes risk factors. Medical search. Frequent questions

Polymorphisms in DNA repair genes and susceptibility to primary intracranial brain gliomas. (cdc.gov)
Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
The aim of this study was to determine distribution of the angiotensin I converting enzyme (ACE) gene polymorphisms and their influence on RAS susceptibility in Czech population. (muni.cz)
Conclusions Our study indicates that while the AGTGD and TGD haplotypes are associated with increased risk of RAS development, CGI haplotype might be one of protective factors against RAS susceptibility in Czech population. (muni.cz)
However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress-related diseases such as vitiligo is unknown. (nih.gov)
This study evaluated the association of the Nrf2 and HO-1 genes polymorphisms with vitiligo susceptibility. (nih.gov)
The polymorphic variants of the IGF genes may serve as a susceptibility factor for pancreatic cancer. (aacrjournals.org)
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)
Significant differences occurred between men and women in some age groups, which could suggest that sex differences in susceptibility to diseases may be caused by genotype differences in detoxifying enzymes such as glutathione S-transferase. (wayne.edu)
C gene polymorphisms to the susceptibility to rheumatoid arthritis (RA). (biomedcentral.com)
Inhibiting the activity of this enzyme increases the susceptibility to mutations, and damage and aberrant DNA methylation, which alters the gene expression of tumor suppressors and proto-oncogenes, potential risk factors for esophageal cancer. (revistaabcd.org.br)
C polymorphisms and susceptibility to esophageal cancer, by assessing the distribution of genotypes and haplotypes between cases and controls, as well as to investigate the association of polymorphisms with clinical and epidemiological characteristics and survival. (revistaabcd.org.br)
C polymorphisms and haplotypes, with esophageal cancer susceptibility. (revistaabcd.org.br)
C polymorphisms and esophageal cancer susceptibility risk. (revistaabcd.org.br)
Carcinogenesis is a multistep process and individual risk to development of cancer depends not only on environmental factors or extrinsic exposure to carcinogens but also on genetic susceptibility of an individual. (bvsalud.org)
Individual's susceptibility to cancer may be partly explained by variability in enzymatic activities of metabolic genes. (bvsalud.org)
Factors that influence the tobacco exposed individuals developing a malignancy may thus include a combination of total tobacco exposure and genetic susceptibility of the individual 12 . (bvsalud.org)
Polymorphic genotypes of these enzymes may serve as genetic biomarkers for susceptibility to certain malignancies and therefore may help predict individual cancer risk 8 . (bvsalud.org)
The results of this study suggest that the investigated G-protein beta3 subunit seems to be a susceptibility factor for major depression and maybe even for bipolar disorder, but not for schizophrenia. (neurotransmitter.net)
Glutamic acid decarboxylase (GAD) enzymes synthesize GABA from glutamate, and, thus, are reasonable candidate susceptibility genes for these conditions. (nature.com)
Subject to confirmation in an independent sample, our study suggests that variations in the GAD1 gene may contribute to individual differences in N and impact susceptibility across a range of anxiety disorders and major depression. (nature.com)
In general, these differences are not readily explained by known risk factors, although the very high incidence of prostate cancer in both black Africans and Caribbeans suggests increased genetic susceptibility. (biomedcentral.com)
No significantly positive associations were found for the CYP1A1 T3801C [ p = 0.71, OR = 1.23 (0.56-2.72)] and GSTM1 - null [ p = 0.26, OR = 1.37 (0.76-2.4)] polymorphisms and prostate cancer susceptibility. (springeropen.com)
Although acceptable been studied in many biomonitoring studies as putative exposure limits have been fixed for the working envi- biomarkers of individual susceptibility to cancer (and ronment, it has become clear that various factors can possibly other diseases), measured alongside markers of affect exposure, including additional skin absorption, exposure and effect. (cdc.gov)
When reported in host susceptibility - the intrinsic and that are not strongly associated with epidemiological studies, these tu- extrinsic factors that have an impact host susceptibility include the follow- mour sites are also noted in some on variable response to carcinogens: ing. (who.int)
There are various limitations in susceptibility, how host susceptibility ies may focus only on specific tumour epidemiological studies (e.g. statis- factors may modulate the impact of outcomes or may not be designed to tical power, exposure assessment, mechanistic events leading to tumour detect some types of tumours). (who.int)
Thus, host susceptibil- of carcinogens: (1) is electrophilic by Hill and Ul rich), as well as other ity may determine how and wheth- or can be metabolical y activated to host susceptibility factors from this er specific individual sites or target electrophiles, (2) is genotoxic, (3) al- large and rich database. (who.int)
Although host susceptibility stress, (6) induces chronic inflam- benzene) that induce not only muta- factors have a modulating role in mation, (7) is immunosuppressive, tions but also a variety of epigenetic carcinogenesis and can affect un- (8) modulates receptor-mediated changes. (who.int)

Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
The enzyme methylene tetrahydrofolate reductase (MTHFR, EC 1.5.1.20) is involved in folate metabolism, catalyzing the reduction of 5 - 10 methyl tetrahydrofolate to 5-me- thyltetrahydrofolate, an essential substrate for the methylation of Hcy to methionine. (scirp.org)
We also investigated the potential effect of the C677T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) to the sUA level in different dementia types. (mdpi.com)
Genetic polymorphism of angiotensinogen (AGT) M235T, AGT T174M, and angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), and methylenetetrahydrofolate reductase (MTHFR) can be a risk factor for MI. (techscience.com)
This study was designed to investigate the association between two single nucleotide polymorphisms (SNP) (rs1801133 [C677T] and rs1801131 [A1298C]) in the MTHFR gene and RSA, in Saudis. (techscience.com)
The highest risk of meningioma was associated with heterozygosity for both MTHFR SNPs (odds ratio 2.11, CI: 1.42-3.12, p=0.002). (snpedia.com)
In general, risks were increased with genotypes associated with reduced MTHFR activity. (snpedia.com)
Failure to confirm influence of methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease. (snpedia.com)
PMID 17301261 ] Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women. (snpedia.com)
We also assessed whether these two MTHFR gene polymorphisms may be implicated in the development of cardiovascular (CV) events and subclinical atherosclerosis manifested by the presence of endothelial dysfunction, in a series of Spanish patients with RA. (biomedcentral.com)
No significant differences in allele or genotype frequencies for the MTHFR gene polymorphisms between RA patients and controls were found. (biomedcentral.com)
One of the pathways contains the enzyme methylenetetrahydrofolate reductase (MTHFR), which catalyzes the remethylation of homocysteine to methionine. (aid-diagnostika.com)
Two frequent polymorphisms in the MTHFR gene are C677T and A1298C resulting in a reduced enzyme and are associated with cardiovascular diseases and deep venous thrombosis. (aid-diagnostika.com)
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, whose role in bipolar disorder is controversial. (cellmolbiol.org)
The aim of the present study was to assess the risk of MTHFR C677T polymorphism for bipolar disorder. (cellmolbiol.org)
Meta-analysis Bipolar disorder MTHFR C677T Genotype Polymorphism. (cellmolbiol.org)

The ACE I/D polymorphism influences individual differences in severity of coronary artery disease and the D allele promotes generation of numerous and critical atherosclerotic lesions. (degruyter.com)
The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis" Clinical Chemistry and Laboratory Medicine , vol. 46, no. 4, 2008, pp. 446-452. (degruyter.com)
Niemiec, P., Zak, I. and Wita, K. (2008) The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis. (degruyter.com)
The low detoxification activity UGT1A7*3 allele is identified as a novel risk factor of pancreatic diseases defining the interaction of genetic predisposition and environmentally induced oxidative injury. (nih.gov)
ApoE-e3 is the most common allele (a variant of the gene) and is found in more than 50% of the general population. (darkdaily.com)
The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. (nih.gov)
These findings indicate that the C allele of rs35652124 located in the promoter region of Nrf2 gene is associated with protective effect on vitiligo in a Han Chinese population. (nih.gov)
C C allele and diabetes on pancreatic cancer risk was observed. (aacrjournals.org)
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)
Furthermore I allele was present in all male patients younger than 55 years, making this allele a likely predisposing factor for NAION in young males. (molvis.org)
GSTT1 null genotype was identified as a risk allele for alcohol toxic hepatitis progression. (rsu.lv)
This mutation determines a temperature-related loss of function, with the T allele having an enzyme activity of approximately 35% of the values observed in individuals carrying the C allele. (biomedcentral.com)
Distribution of ACE gene I/D genotypes and allele frequencies in patients were not significantly different from controls. (ksbu.edu.tr)
These results suggest that the T allele of the C825T polymorphism in the GNB3 gene is associated with MDD. (neurotransmitter.net)
Conclusion: These data suggest that BACE1 polymorphism in exon 5 influences risk for late-onset AD in those carrying the ApoE ε4 allele. (korea.ac.kr)
Although, no significant differences were observed in the -607 C/A polymorphism and allele frequency of IL-18 among BC, CRC patients and healthy individuals, the odds ratio (OR) was 1.75 for both C and A allele in BC patients. (edu.iq)

These two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme, and significantly diverse effects have been reported in relation to the association with RSA. (techscience.com)
Single-nucleotide polymorphisms (SNPs) in regulatory areas of MMP-encoding genes can alter their transcription rate, and therefore the possible effect on pelvic floor supporting structures. (scite.ai)
This study aims to explore the association between the single-nucleotide polymorphisms (SNPs) of genes encoding ECM processing enzymes (a disintegrin and metalloproteinase with thrombospondin motifs [ADAMTSs]), ECM degrading enzymes (matrix metalloproteinases [MMPs]) and their tissue inhibitors of metalloproteinase (TIMPs), and POP. (scite.ai)
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)
Two coding single nucleotide polymorphisms (SNPs) supposedly affect their functions: GSTO1*C419A (rs4925) causing alanine to aspartate substitution (*A140D) and GSTO2*A424G (rs156697) causing asparagine to aspartate substitution (*N142D), and have been associated with several neurodegenerative diseases and cancers. (cancerindex.org)
We ing practice, different workload, and the use of personal are monitoring single nucleotide polymorphisms (SNPs) protection devices. (cdc.gov)

Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state. (techscience.com)

This A1298C polymorphism is known to have a lower effect in reducing enzyme activity, compared with the 677 mutation. (biomedcentral.com)

The mutated genotypes of GT eNOS gene was significantly more frequent in diabetic patients. (scirp.org)
Overall, a significantly decreased risk of vitiligo was found to be associated with Nrf2 rs35652124 CC and combined (CT+CC) genotypes [odds ratio (OR) 0.64, 95% confidence interval (CI) 0.50-0.83 and OR, 0.84, 95% CI 0.71-0.99, respectively], as well as among subgroups: female, onset age ≤20 and never smoker. (nih.gov)
Genotypes were determined by polymerase chain reaction and restriction enzyme analysis. (molvis.org)
A growing number of studies have examined whether these different genotypes are associated with breast cancer risk or interact with environmental exposures (e.g., cigarette smoking). (health.am)
As a result, combined effect of all three variant genotypes exhibited almost 3-fold risk of RCC development. (cancerindex.org)
The risk of developing prostate cancer in Algeria does not appear to be associated with CYP1A1 T3801C genotypes and GSTM1 - null , but GSTT1 - null and GSTM1/GSTT1 -double null genotypes increased the risk of prostate cancer. (springeropen.com)

Hebert-Schuster M, Fabre EE, Nivet-Antoine V. Catalase polymorphisms and metabolic diseases. (medlineplus.gov)
Polymorphisms in genes that code for enzymes, receptors, or other proteins that act in metabolic pathways of potential relevance to breast cancer may influence the function of these proteins and thus create between-person differences in metabolic activity that may alter risk of breast cancer. (health.am)
Metabolic gene polymorphisms might modify the effect of toxins on the outcome of pregnancy and development afterwards. (biomedcentral.com)
Glutathione S - transferases ( GSTs ) involve a superfamily of multifunctional and ubiquitous phase II metabolic enzymes. (springeropen.com)

At least eight known mutations of the EGFR gene have been associated with lung cancer and often appear in drug-resistant cases of the disease. (darkdaily.com)
At least 13 mutations in the CAT gene have been found to cause acatalasemia, a condition characterized by very low catalase activity. (medlineplus.gov)
The mutations that cause acatalasemia occur in both copies of the CAT gene in each cell, and they reduce the activity of catalase to less than 10 percent of normal. (medlineplus.gov)
Goth L, Rass P, Pay A. Catalase enzyme mutations and their association with diseases. (medlineplus.gov)
Less severe elevations of homocysteine levels are more commonly observed as a result of heterozygous mutations of these enzymes, dietary deficits of folate or vitamin B 12 , or in patients with liver disease or decreased renal function [ 6 ]. (biomedcentral.com)
however, only 5% to 10% of breast cancers are estimated to be attributable to the inheritance of rare, highly penetrant, germ-line mutations in genes, although this proportion is higher at younger ages of diagnosis. (health.am)
mutations in the gene for the tumor protein p53 (causing Li-Fraumeni syndrome) and in PTEN (causing Cowden disease) account for a small proportion of inherited breast cancers. (health.am)
Mutations in each of these genes occur in fewer than 1% of the population. (health.am)
Mutations in genes concerned with production of enzymes for metabolism of tobacco products may lead to increased risk of carcinogenesis with respect to oral mucosa. (bvsalud.org)
Germline mutations in the gene AML1 ( RUNX1, CBFA2 ) occur in the familial platelet disorder with predisposition for AML, an autosomal dominant disorder characterized by moderate thrombocytopenia, a defect in platelet function, and propensity to develop AML. (medscape.com)

Concomitance of Polymorphisms in Glutathione Transferase Omega Genes Is Associated with Risk of Clear Cell Renal Cell Carcinoma. (cancerindex.org)

Therefore, we investigated the possible association of ACE gene insertion/deletion (I/D) polymorphism and the severity of atherosclerosis, estimated on the basis of the number of coronary stenoses and critical arterial occlusions observed during coronary angiography. (degruyter.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)
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)
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)
A homozygous inherited deletion of either gene leads to absence of enzyme activity in affected individuals, and those lacking more than one detoxifying gene are at the highest risk for diseases caused by environmental factors. (wayne.edu)
The aim of this study was to investigate the frequency of ACE insertion/deletion (I/D) and AT1R (A1166C) gene polymorphisms in ischemic stroke patients in Trakya region and the relation between these gene polymorphisms and stroke subtypes and vascular risk factors. (balkanmedicaljournal.org)
Because these polymorphisms may be very common (the homozygous deletion in the glutathione-S-transferase mu gene occurs in approximately 50% of whites), their population-attributable risks may be large even if the relative risks are modest. (health.am)
1994). Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin. (geneticsmr.com)
2007). Interaction between the angiotensin-converting enzyme gene insertion/deletion polymorphism and obstructive sleep apnoea as a mechanism for hypertension. (geneticsmr.com)
Deletion polymorphisms in the angiotensin converting enzyme gene are associated with pulmonary hypertension evoked by exercise challenge in patients with chronic obstructive pulmonary disease. (geneticsmr.com)
2010). Insertion/deletion polymorphism and serum activity of the angiotensin-converting enzyme in Turkish patients with obstructive sleep apnea syndrome. (geneticsmr.com)
We have investigated the association among the allelic distribution of the insertion/deletion (I/D) polymorphism of the ACE gene identified by polymerase chain reaction. (ksbu.edu.tr)

Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
In this case-control study of 1136 Han Chinese vitiligo patients and 1200 controls, Nrf2 (rs35652124 and rs6721961) and HO-1 (rs2071746) genes were genotyped by PCR-restriction fragment length polymorphism analysis. (nih.gov)
The ACE I/D polymorphism was investigated using polymerase chain reaction (PCR), and the AT1R (A1166C) polymorphism was identified using PCR and restriction fragment length polymorphism (RFLP) assay. (balkanmedicaljournal.org)
Results were compared by PCR-linked restriction fragment length polymorphism and sequence analysis with those from 35 reference worms from pigs in the United Kingdom, Denmark, Uganda, Guatemala, and the Philippines and from 20 worms from humans in Uganda, Tanzania, and Nepal. (cdc.gov)
We used the PCR-linked restriction fragment length polymorphism method described by Nejsum et al. (cdc.gov)

A diplotype (according to the authors, but perhaps actually a genoset ) of rs1801131 and rs1801133 has been linked to slightly increased risk for several types of brain cancer . (snpedia.com)

1997). Polymorphisms in angiotensin converting enzyme gene and reflux nephropathy: a genetic predisposition to scar formation? (geneticsmr.com)

Angiotensin II is produced primarily by angiotensin I-converting enzyme (ACE) within atherosclerotic lesions and ACE level in plaques correlates with the severity of vessel wall damage. (degruyter.com)

For each DNA repair pathway, multivariate logistic analyses included all polymorphisms in the pathway plus ever/never living on a farm and ever/never smoking, as surrogates for occupational and environmental exposure. (cdc.gov)
The nuclear factor erythroid-derived two-like 2-antioxidant response element (Nrf2-ARE) pathway and its downstream antioxidant enzyme heme oxygenase-1 (HMOX1 or HO-1) play essential roles in H2 O2 -induced oxidative damage in human melanocytes. (nih.gov)
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. (snpedia.com)
The hemostatic pathway: role of factor IX. (medscape.com)
The VKORC1 enzyme helps turn on (activate) clotting proteins in the pathway that forms blood clots . (medlineplus.gov)

Kerpedjiev discovered that the top gene on the list-Tumor protein p53 (TP53)-was mentioned in about 8,500 articles to date, and that it is typically included in about two PubMed papers per day. (darkdaily.com)
The National Library of Medicine describes the TP53 gene as a tumor suppressor that regulates cell division by preventing cells from growing and proliferating too quickly or uncontrolled. (darkdaily.com)
TNF encodes a proinflammatory cytokine that is part of the tumor necrosis factor superfamily. (darkdaily.com)
In head and neck cancer, tobacco exposure and alcohol consumption are predominantly the most significant external factors for tumor formation. (bvsalud.org)
Alteration of the pattern of gene expression by oxidants may function in the stimulation of the initiated cell during tumor promotion. (bvsalud.org)
Furthermore, no statistically significant differences between the studied polymorphisms and tumor parameters (the Gleason score and clinical stages of aggressiveness) at diagnosis of PCa. (springeropen.com)
Introduction: The present study aimed to determine the alterations in the serum levels of tumor markers used to evaluate cardiac, renal and liver function, and detect the interleukin (IL)-18 rs1946518 polymorphism in breast (BC), colorectal (CRC) and prostate cancer (PCa) patients. (edu.iq)
Conclusion: The aforementioned results suggested that tumor markers could be considered as excellent biomarkers for the early detection of BC, CRC and PCa, whereas the concentration of liver enzymes could serve as an alternative indicator for the diagnosis of CRC and PCa. (edu.iq)

Six common polymorphisms in vitamin D metabolism genes were genotyped. (medscape.com)
[ 17 ] With different combinations of common polymorphisms in GC , there were 3 major VDBP isoforms (Gc1F, Gc1S, and Gc2), and their concentrations varied according to measurement methods. (medscape.com)

From analysed genetic markers clinical outcome of chronic viral hepatitis C were influenced by GSTM1 null genotype and polymorphisms in the CCR5 and SERPINA1 genes. (rsu.lv)
Combined Genotype Analysis of GSTM1 and GSTT1 Polymorphisms in a Polish Population " by Christos Kargas, Renata Krupa et al. (wayne.edu)
This study describes the distribution of GSTT1 and GSTM1 polymorphisms in a normal population of central Poland. (wayne.edu)
The prevalence of the "null" genotype of the GSTM1 and GSTT1 genes was determined by using a multiplex polymerase chain reaction methodology in a group of 233 healthy individuals. (wayne.edu)
This non systematic review summarizes current data available on the role of environment gene interaction in form of GSTM1 null polymorphism and oral carcinogenesis. (bvsalud.org)
Relevant data was selected in order to summarize the studies conducted on GSTM1 null polymorphism and oral cancer. (bvsalud.org)
Relationship between GSTM1 null polymorphism in oral cancer needs to be established to confirm the role of environment gene interaction in oral carcinogenesis. (bvsalud.org)
Glutathione S-transferases mu 1 (GSTM1) and theta 1 (GSTT1) are major detoxification phase II enzymes that provide critical defense against xenobiotics. (biomedcentral.com)
Genotyping of CYP1A1 T3801C polymorphisms and GSTM1/GSTT - null was made, respectively, by PCR-RFLP and multiplex PCR. (springeropen.com)

The FZD7 rs2280509 polymorphism (CT) was found to be significantly associated with an increased risk of HCC. (bvsalud.org)
In addition, FZD7 rs2280509 polymorphism is significantly associated with an increased risk of HCC in the Egyptian population. (bvsalud.org)
Major depression disorder (MDD) significantly increases the risk for coronary heart disease (CHD) which is a leading cause of mortality in patients with MDD. (hindawi.com)
Several of the six single-nucleotide polymorphisms tested in the GAD1 region demonstrated significant association in both stages, and a combined analysis in all 1128 subjects indicated that they formed a common high-risk haplotype that was significantly over-represented in cases ( P =0.003) with effect size OR=1.23. (nature.com)

In patients with a dilated pancreatic duct, a Roux-en-Y side-to-side pancreaticojejunostomy is indicated. (medscape.com)
Diabetes constitutes one of the major independent cardiovascular risk factors, and patients with this disease suffer from premature cardiovascular morbidity and mortality. (scirp.org)
Single nucleotide polymorphisms were investigated using the TaqMan method in 892 patients with pancreatic ductal adenocarcinoma and 783 healthy controls who were recruited from The University of Texas M. D. Anderson Cancer Center from 2000 to 2007. (aacrjournals.org)
Forty-seven patients with NAION and 76 controls, age- and gender-matched, were recruited and genotyped for renin-angiotensin-aldosterone system (RAAS) genes. (molvis.org)
For patients who died of toxic liver damage more frequent slow acetylation encoding alleles (NAT2 gene) were found, that were associated also with higher levels of GGT and alkaline phosphatase. (rsu.lv)
C gene polymorphism confers an increased risk for subclinical atherosclerosis and CV events in patients with RA. (biomedcentral.com)
Patients with rheumatoid arthritis (RA) have increased risk of cardiovascular (CV) disease due to accelerated atherosclerosis [ 1 ]. (biomedcentral.com)
Esophageal cancer patients carrying methylenetetrahydrofolate reductase 677TT polymorphism had higher risk of death from the disease. (revistaabcd.org.br)
2001). Angiotensin converting enzyme in patients with sleep apnoea syndrome: plasma activity and gene polymorphisms. (geneticsmr.com)
Study on the polymorphism of angiotensin converting enzyme genes and serum angiotensin II level in patients with obstructive sleep apnea hypopnea syndrome accompanied hypertension. (geneticsmr.com)
2006). Investigation of the angiotensin-converting enzyme gene polymorphism in obstructive sleep apnea hypopnea syndrome patients with XU YU ZHENG. (geneticsmr.com)
Despite the risk of tobacco and alcohol exposure, the majority of patients who smoke or drink alcohol do not develop oral cancer. (bvsalud.org)
This study was carried out to determine angiotensin-converting enzyme (ACE) gene polymorphism in Turkish acute stroke patients and to establish whether there is an association of angiotensin-converting enzyme gene I/D polymorphism with clinical parameters. (ksbu.edu.tr)
Our results suggest that the ACE gene polymorphism is not associated with the pathogenesis of stroke in Turkish stroke patients. (ksbu.edu.tr)
Therefore, we investigated whether this Gbeta3 polymorphism is associated with affective disorders or with the response to antidepressant treatment in 88 depressive patients (10 bipolar disorder, 78 major depression) compared with 68 schizophrenic patients and 111 healthy controls. (neurotransmitter.net)
Methods: We genotyped a synonymous C/G polymorphism of BACE1 located in exon 5 and apolipoprotein E (ApoE) in 248 AD patients and 224 healthy persons. (korea.ac.kr)
Moreover, depression is frequently observed in a subset of patients following acute coronary syndrome (ACS) and increases risk for mortality. (hindawi.com)
Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. (hindawi.com)
This case-control study was conducted to determine the frequency of polymorphisms in two DNA repair enzyme genes, xeroderma pigmentosum complementation group D (XPD), codons 312 and 751, and x-ray cross-complementing group 1 (XRCC1), codons 194 and 399, in patients with AMD and in disease-free control subjects. (istanbul.edu.tr)
Genotype variation of ACE and ACE2 genes affects the severity of COVID-19 patients. (cdc.gov)
Older patients who received unpurified plasma‐derived clotting factor concentrates may have signs and symptoms of infectious disease (eg, hepatitis, HIV infection). (medscape.com)
During 2014-2016, NDM-producing CRE were isolated from patients in Colorado without known health care risk factors. (cdc.gov)
In six patients, the isolate was detected from cultures collected in outpatient settings and lacked the known CRE risk factors of overnight stays in health care settings, dialysis, or surgery in the preceding 12 months, and had no invasive devices in the preceding 2 days (i.e., the isolates were community-associated). (cdc.gov)
However, most patients who present with de novo AML have no identifiable risk factor. (medscape.com)
Patients with low-risk MDS (eg, refractory anemia with normal cytogenetics findings) generally do not develop AML, whereas patients with high-risk MDS (eg, refractory anemia with excess blasts-type 2) frequently do. (medscape.com)
More subtle genetic disorders, including polymorphisms of enzymes that metabolize carcinogens, also predispose patients to AML. (medscape.com)

Risk factors for ovarian cancer are related to hormonal exposure and reproduction, and polymorphisms within genes involved in metabolism of oestrogen and certain xenobiotics may influence the risk of developing ovarian cancer. (lancs.ac.uk)
Interindividual differences observed in the metabolism of xenobiotics may be due to polymorphisms of genes encoding the detoxification enzymes. (springeropen.com)
Xenobiotic-metabolizing enzymes ( XME ), coded by a family of xenobiotic-metabolizing genes ( XMG ), have a major role in elimination of many xenobiotics or environmental chemical compounds from the body. (springeropen.com)

Uridine 5'-diphosphate glucuronosyltransferases are phase II detoxifying enzymes capable of tobacco-borne toxicant inactivation and cellular protection. (nih.gov)

Variants of the VEGFA gene have been affiliated with microvascular complications of diabetes mellitus and atherosclerosis . (darkdaily.com)
Alternatively spliced transcript variants have been found for this gene. (nih.gov)
A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants. (techscience.com)
Four transcript variants encoding different isoforms have been found for this gene. (cancerindex.org)
Therefore, we aimed to assess the effect of specific GSTO1 and GSTO2 gene variants, independently and in interaction with established risk factors (smoking, obesity and hypertension) on the risk for the most aggressive RCC subtype, the clear cell RCC (ccRCC). (cancerindex.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)
This facilitates the quantification of differences in individual uptake, the degree of work- potential risk of exposure at the level of individuals. (cdc.gov)

Materials and methods: Quantification of FZD7 and GPC3 gene expression by real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) assay, and genotyping FZD 7 (rs2280509 SNP) gene polymorphism using RT-PCR. (bvsalud.org)
CRE isolates that are resistant to two or more carbapenems are tested for the KPC and NDM genes by polymerase-chain reaction at the CDPHE laboratory. (cdc.gov)

In this work we study the association between TMD and genetic polymorphisms of folate metabolism, neurotransmission, oxidative and hormonal metabolism. (biomedcentral.com)
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 enzyme methylenetetrahydrofolate reductase is engaged in DNA synthesis through folate metabolism. (revistaabcd.org.br)

Coronary artery ectasia occurs 4 times more frequently in males than in females and in people who have risk factors for heart disease such as smokers. (wikipedia.org)
Coronary calcification and risk of cardiovascular disease. (erasmus-epidemiology.nl)
[ 6-9 ] For instance, low 25(OH)D was associated with a high risk of coronary heart disease or reduced bone mineral density in whites, but not in blacks. (medscape.com)

In an elderly population with cognitive impairment, we investigated the association between serum uric acid (sUA) and serum homocysteine (sHcy), known risk factors for cerebrovascular disease. (mdpi.com)
Insulin-like growth factors (IGF) have been associated with risk of common human cancers, but the association between IGFs and pancreatic cancer risk is unclear. (aacrjournals.org)
Results of published studies of the association between the factor V Leiden mutation and ischemic stroke. (jamanetwork.com)
Results of published studies of the association between the methylenetetrahydrofolate reductase C677T polymorphism and ischemic stroke. (jamanetwork.com)
The aim of the present study was to evaluate the validity of frizzled-7 (FZD7) and glypican-3 (GPC3) gene expression as potential biomarkers for HCC early diagnosis, and to investigate the association between FZD7 rs2280509 polymorphism and HCC risk. (bvsalud.org)
The author performed a meta-analysis and pooled data from individual case-control studies that examined the association between C677T polymorphism and bipolar disorder (meta-analysis: 8 studies, 1457 cases and 2169 controls).The pooled Odd Ratios (OR) were estimated by both fixed effects and random effects models. (cellmolbiol.org)
Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment. (neurotransmitter.net)
Association between a G-protein beta3 subunit gene polymorphism and the symptomatology and treatment responses of major depressive disorders. (neurotransmitter.net)
The genes involved in signal transduction are major candidates in association studies on affective disorders and responses to antidepressants. (neurotransmitter.net)
Previous genetic association studies of BACE1 gene have yielded conflicting results. (korea.ac.kr)
We explored the association between prenatal exposure to SHS and neurodevelopment at 24 months of age considering genetic polymorphism and breastfeeding in 720 mothers and their offspring enrolled in the Korean multicenter birth cohort study (Mothers and Children Environmental Health, MOCEH). (biomedcentral.com)
In this study, we examined the GAD1 and GAD2 genes for their association with genetic risk across a range of internalizing disorders. (nature.com)
Current meta-analysis evaluated four CYP1B1 polymorphisms (Leu432Val, Arg48Gly, Ala119Ser and Asn453Ser) for their association with ovarian cancer risk. (lancs.ac.uk)
Association between cyclin-dependent kinase inhibitor 2B antisense RNA 1 and zinc finger homeobox 3 gene polymorphisms and COVID-19 severity. (cdc.gov)
Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19. (cdc.gov)

However, it is important to study the prevalence of genetic polymorphisms of these genes among different populations. (techscience.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)

Our results show that ACE I/D and AT1R (A1166C) gene polymorphisms were not genetic risk factors for ischemic stroke in subjects in Trakya region. (balkanmedicaljournal.org)

In order to understand the biology, etiology and to develop new interventions of PCa, complete analysis of different risk factors along with their comparison with genetics is essential [ 4 ]. (springeropen.com)
5 ]. Smoking, dietary habits, lifestyle factors, environmental factors, as well as geographical/racial factors and genetics factors may be involved in PCa development. (springeropen.com)
Overview of Genetics A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)

Future analyses of our data will include assessing risk of DNA repair polymorphisms under specific exposure conditions, such as exposures to pesticides, solvents, and UV light. (cdc.gov)
ABSTRACT In view of the widespread use of pesticides in Egypt and the increasing incidence of leukaemia and lymphoma we aimed to assess pesticide exposure and other selected variables as risk factors for lymphoproliferative disorders (leukaemia and non-Hodgkin lymphoma). (who.int)
Family history of cancer, exposure to X-rays, smoking and use of hair dyes were not risk factors for lymphoproliferative disorders in univariate analysis. (who.int)
If these polymorphisms cause only modest increases in risk, or confer risk only in conjunction with exposure to carcinogens, they would not cause noticeable familial aggregation. (health.am)
Cigarette smoking is a route of exposure to aryl aromatic amine carcinogens that can be activated by the cytochrome P450 1A2 (CYP1A2) and NAT1 and NAT2 (N-acetyltransferase 1 and 2) genes. (health.am)
Cholesterol lowering drugs and risk of age related maculopathy: prospective cohort study with cumulative exposure measurement. (erasmus-epidemiology.nl)
To test this hypothesis, a nested case-control study was conducted with pharmacogenetic polymorphism as an exposure and hospitalization rate as an outcome. (mssm.edu)
Therefore variations in the expression of these genes due to heritable genetic polymorphisms might modulate the process of carcinogenesis by altering the exposure levels of tobacco derived carcinogens. (bvsalud.org)
Harmful exposure to these environmental risks could begin in the mother's womb and affect fetal development. (biomedcentral.com)
Therefore, SHS exposure should be considered a modifiable risk factor for delayed neurodevelopment and cognitive impairment in children. (biomedcentral.com)
Due to its risk factor exposure, low cure rate and high mortality, OSCC represents a global public health problem, with a great individual and socioeconomic burden. (biomedcentral.com)
As to assess the potential risk of environmental exposure compared to ambient monitoring, BM is more expen- and other factors at the level of individuals. (cdc.gov)
humoral and cellular immune markers, exposure and prompted the research to the develop- growth factors and proinflammatory mediators. (cdc.gov)

Most exogenous carcinogens are metabolized by enzymes, which may change them to more DNA-damaging forms ordetoxify them, often by attaching glutathione or other groups that promote excretion of the modified compounds. (health.am)
Environmental carcinogens and certain other endogenous factor (genetic alteration and mutation) interacting in a complex manner can give rise to development of cancer. (bvsalud.org)
Various products of these genes are enzymes involved in the activation or degradation of carcinogens/pro-carcinogens. (bvsalud.org)
These are termed xenobiotic-metabolizing enzymes (XMEs) found especially in the liver but also in the mucosa of the upper aerodigestive tract, and several are polymorphic and strongly influence individual biological responses to carcinogens. (bvsalud.org)

As a result, twin studies of psychiatric disorders are greatly contributing to the elucidation of genetic and environmental factors in the etiology of psychiatric conditions. (springer.com)
Prostate cancer is the most common cancer in the world, and its etiology involves the interaction of genetic and environmental factors. (springeropen.com)

CYP1B1 is a key P450 enzyme involved in the metabolism of exogenous and endogenous substrates and plays a key role in hormone-induced carcinogenesis. (lancs.ac.uk)
Many genes are involved in the metabolism of warfarin and in determining the drug's effects in the body. (medlineplus.gov)

A significant proportion of medications that are widely prescribed for older adults are metabolized by enzymes that are encoded by highly polymorphic genes. (mssm.edu)
The polymorphic genes have subtle effect on cancer risk at individual level but may have a large population impact because the relevant polymorphism may be highly prevalent in a population. (bvsalud.org)

The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. (nih.gov)
There were no significant effects on oxidative stress, antioxidant status and other CVD risk factors. (cambridge.org)
Oxidative stress seems to be an important factor in the development of age-related macular degeneration (AMD). (istanbul.edu.tr)
Moreover, myeloperoxidase (MPO), an abundant enzyme of inflammatory cells (neutrophils), - involved in the principal defense mechanisms of innate immunity -was also effective in oxidative biodegradation of CNT in biochemical models and in cells yielding the products that did not cause pulmonary inflammation in mice [14] . (cdc.gov)

Vascular Endothelial Growth Factor A (VEGFA) contains a heparin-binding protein that promotes the growth of blood vessels and is critical for physiological and pathological angiogenesis . (darkdaily.com)
T polymorphism and CV events or endothelial dysfunction was observed. (biomedcentral.com)

Additionally, the rs1946518 polymorphism in the IL-18 gene could be considered as a risk factor for the occurrence of BC, CRC and PCa. (edu.iq)
Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin sensitivity have a lower tolerance for the drug's effect or take even longer to clear the drug from their body. (medlineplus.gov)

Glutathione S-transferases (GSTs), a superfamily of multifunctional enzymes, play an important role in the onset and progression of renal cell carcinoma (RCC). (cancerindex.org)

No statistically significant difference in sociodemographic, clinical, and behavioral characteristics that are known to affect hospitalization risk was found between the cases and controls. (mssm.edu)

However, as most pathologists know, there are more than 20,000 protein-coding genes in the human genome . (darkdaily.com)
EGFR makes a protein known as the epidermal growth factor receptor, which positions the cell membrane to bind to other proteins outside the cell to help it receive signals to trigger cell growth, division, and survival. (darkdaily.com)
The value of C-reactive protein in cardiovascular risk prediction: the Rotterdam Study. (erasmus-epidemiology.nl)
A recently identified polymorphism of a G-protein beta3 subunit (C825T) has been shown to be associated with increased signal transduction and ion transport activity. (neurotransmitter.net)
The aim of the present study was to test a possible effect of the G-protein beta3-subunit (Gbeta3) C825T gene variant on the antidepressant activity of selective serotonin reuptake inhibitors (SSRIs) in a sample of major and bipolar depressives, with or without psychotic features. (neurotransmitter.net)
Background: β-Site amyloid precursor protein cleaving enzyme (BACE) is a candidate risk factor for Alzheimer's disease (AD) from its key role in β-amyloid generation. (korea.ac.kr)
The protein encoded by this gene is an omega class glutathione S-transferase (GST). (cancerindex.org)
What does this gene/protein do? (cancerindex.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Vitamin D-binding protein (VDBP), encoded by the GC gene, binds to 85% to 90% circulating 25(OH)D and thereby regulates the vitamin D bioavailability. (medscape.com)

When exogenous pancreatic enzymes are taken with a meal, CCK-releasing factors are degraded and CCK release in response to a meal is reduced. (medscape.com)

PMID 19336565 ] Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmo Diet and Cancer Cohort. (snpedia.com)
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. (snpedia.com)
Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma. (snpedia.com)
Polymorphic homozygote genotype methylenetetrahydrofolate reductase 677TT was associated with higher risk of death after surgical treatment for esophageal cancer. (revistaabcd.org.br)
The VKORC1 gene provides instructions for making a vitamin K epoxide reductase enzyme. (medlineplus.gov)

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)
There was also no difference among the stroke subgroups regarding the distribution of ACE I/D and AT1R (A1166C) polymorphisms. (balkanmedicaljournal.org)

However, it is unclear how polymorphisms in the CAT gene impact catalase activity, and how changes in the activity of this enzyme might influence a person's risk of developing these diseases. (medlineplus.gov)

Polymorphisms of the DNA Repair Genes XP. (istanbul.edu.tr)

1987. Physiologically based pharmacokinetics and the risk assessment process for methylene chloride. (cdc.gov)

This study analyzes UGT1A7 gene polymorphisms in pancreatic diseases. (nih.gov)
Pancreatic expression of UGT1A genes was identified by duplex reverse-transcription PCR. (nih.gov)
Predominant expression of the UGT1A7 gene was identified in human pancreatic tissue. (nih.gov)
Pancreatic enzyme supplementation may be helpful in reducing pain. (medscape.com)
To determine whether genetic variations of IGF modify pancreatic cancer risk, we compared the frequency of six single nucleotide polymorphisms of IGF1 and IGF2 in a large-scale case control study. (aacrjournals.org)
The known and suspected risk factors for pancreatic cancer include cigarette smoking, type II diabetes, obesity, family history of pancreatic cancer, and diet ( 2 ). (aacrjournals.org)
The risk of malignant transformation of pancreatic cysts is approximately 0.24% per year, and the risk of cancer in cysts without a significant change over a 5-year period is likely to be lower. (medscape.com)

Abstract Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI). (techscience.com)

Polymorphisms are usually defined as a sequence variant in a gene that occurs in more than 1% of alleles. (health.am)
0·05) of acute FVPD consumption in individuals with the GG variant of the eNOS gene. (cambridge.org)

The inflammation response will also trigger platelet activation which increases the risk of blood clots. (wikipedia.org)

While changes in specific genes, particularly CYP2C9 and VKORC1 , affect how the body reacts to warfarin, many other factors, including sex, age, weight, diet, and other medications, also play a role in the body's interaction with this drug. (medlineplus.gov)

Polymorphisms in many of the genes encoding these enzymes have been identified as risk factors for environmentally and occupationally caused cancers. (cdc.gov)
The aetiology of urological cancers is poorly understood and variations in incidence by ethnic group may provide insights into the relative importance of genetic and environmental risk factors. (biomedcentral.com)
The risk of urological cancers in England varies greatly by ethnicity, including within groups that have traditionally been analysed together (South Asians and Blacks). (biomedcentral.com)
South Asians, however, are a heterogeneous group with varied socio-cultural practices and the risk of urological cancers within each individual ethnic group is unknown. (biomedcentral.com)
a sole catabolic enzyme of 5-FU) activity, which in turn lead to oral cancers. (biomedcentral.com)
Screening may be appropriate for people with a family history of a dominantly inherited disorder that manifests later in life, such as Huntington disease or cancers associated with abnormalities of the BRCA1 and BRCA2 genes. (msdmanuals.com)

The role of atherosclerosis, hormones, and genes in stroke. (erasmus-epidemiology.nl)
Risk factors for progression of atherosclerosis measured at multiple sites in the arterial tree. (erasmus-epidemiology.nl)

Some studies have also suggested the use of angiotensin converting enzyme inhibitors, as ACE gene polymorphisms have been implicated in disease progression. (wikipedia.org)
Some systemic diseases, such as uncontrolled diabetes, can increase their risk of development and progression. (mdpi.com)
The small risk of malignant progression in stable cysts is likely outweighed by the costs of surveillance and the risks of surgery. (medscape.com)
New sequencing technologies have shown that a large number of aberrantly expressed lncRNAs are associated with multiple cancer types and indicated they have emerged as an important class of pervasive genes during the development and progression of cancer. (biomedcentral.com)

CAT gene polymorphisms may also be associated with high blood pressure ( hypertension ), a skin condition called vitiligo , thinning of the bones (osteoporosis), and elevated levels of cholesterol and other fats (lipids) in the blood, which increase the risk of heart attack and stroke. (medlineplus.gov)
Hypertension (HTN) and smoking are established risk factors for cardiovascular disease ( U.S. Department of Health and Human Services 2000 ), the leading cause of death worldwide ( World Health Organization 2009 ). (nih.gov)
2009). Reciprocal interactions of obstructive sleep apnea and hypertension associated with ACE I/D polymorphism in males. (geneticsmr.com)
2004). Angiotensin-converting enzyme, sleep-disordered breathing, and hypertension. (geneticsmr.com)

Enzymes in base excision (BER), nucleotide excision (NER), double strand break/recombination (DSB/RR), mismatch (MMR), and direct-damage DNA repair pathways are important in the repair of diverse types of DNA damage. (cdc.gov)
Proteins involved in these pathways are including many proteins starting with the enzymes, which direct substrate are endo- or xenobiotic, followed by proteins, that regulates enzyme and their coding gene activity and proteins involved in the transport of these substances in the cell and the body (transport proteins receptors). (rsu.lv)

Anatomy1

Organisms3

Diseases27

Chemicals and Drugs66

Analytical, Diagnostic and Therapeutic Techniques and Equipment59

Psychiatry and Psychology3

Phenomena and Processes66

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena5

Information Science9

Named Groups6

Health Care45

Geographicals21

Susceptibility28

MTHFR16

Allele16

SNPs7

Single-nucleotide p1

A1298C1

Genotypes6

Metabolic4

Mutations10

Glutathione Transferase1

Deletion12

Restriction fragment len5

Rs18011331

Genetic predisposition1

Angiotensin I-conver1

Pathway5

Tumor8

Common polymorphisms2

GSTM19

Significantly4

Patients26

Xenobiotics3

Phase II detoxif1

Variants5

Differences2

Polymerase2

Folate metabolism3

Coronary3

Association15

Prevalence2

Ischemic stroke1

Genetics3

Exposure13

Carcinogens4

Etiology2

Involved in the metabolism2

Polymorphic genes2

Oxidative4

Endothelial2

Additionally2

Superfamily of multifunctional1

Clinical1

Protein10

Exogenous1

Reductase5

A1166C2

Activity of this enzyme1

Repair genes1

Methylene1

Pancreatic7

Abstract1

Variant2

Platelet1

Interaction1

Cancers6

Atherosclerosis2

Progression4

Hypertension4

Pathways2