Polymorphisms promoter regions genetic. Medical search. Frequent questions

Four tagged single-nucleotide polymorphisms (SNPs) of HMGB1 were detected by a TaqMan-based real-time polymerase chain reaction (PCR) in patients. (jcancer.org)
The aim of this study was to identify any impact of CYP2A13 single-nucleotide polymorphisms (SNPs) on CYP2A13 expression in human lung. (aspetjournals.org)
To date, more than 20 single-nucleotide polymorphisms (SNPs) have been identified in CYP2A13 (Zhang et al. (aspetjournals.org)
Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)
Single nucleotide polymorphisms (SNPs) in the promoter region of FAS and FASLG may alter their transcriptional activity. (duke.edu)
Fourteen loci with known DA-associated single nucleotide polymorphisms (SNPs) were sequenced and compared with data from 238 unexposed subjects. (cdc.gov)
The aim of the present study was to determine the association of -344T/C and -470C/T Single Nucleotide Polymorphisms (SNPs) of the CYP11B2 and their resulted haplotypes with EH and Plasma Aldosterone Concentration (PAC) in southern population of Iran. (ephysician.ir)
The majority of identified genetic polymorphisms are single nucleotide polymorphisms (SNPs). (researchsquare.com)
The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. (blogspot.com)
Out of these, 4 SNPs from 3′ UTR were found to play role in miRNA binding, 7 SNPs from 5′ near and intronic region were predicted to involve in transcription factor binding and expression of MBL2 gene. (springeropen.com)
Several studies have shown MBL2 SNPs of promoter and exonic region regulate the MBL2 serum levels in different autoimmune diseases and infectious diseases, including HIV infection, leishmaniasis, leprosy, malaria, schistosomiasis, tuberculosis and trypanosomiasis (Madsen et al. (springeropen.com)
2007 ). SNPs of MBL2 gene cover both coding and non-coding regions. (springeropen.com)
Single nucleotide polymorphisms (SNPs) associated with decline in lung function in firefighters. (cdc.gov)

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)
Furthermore, we found that HMGB1 rs1360485 polymorphisms seemed to be related to susceptibility to developing poorly differentiated cancer linked to tobacco consumption in EGFR mutant patients. (jcancer.org)
So far, the studies which explore the relationship between the E2F1 polymorphisms and ovarian cancer susceptibility are rare. (hindawi.com)
CYP2A13 genetic polymorphisms may be associated with interindividual differences in susceptibility to tobacco-related tumorigenesis, because the resultant variations in CYP2A13 expression and metabolic activity can significantly alter the extent of NNK metabolic activation in human lung. (aspetjournals.org)
The report covers research from the authors' laboratories on the structure and regulation of UDP-glucuronosyltransferase (UGT) genes, glucuronidation of xenobiotics and endobiotics, the toxicological relevance of UGTs, the role of UGT polymorphisms in cancer susceptibility, and gene therapy for UGT deficiencies. (aspetjournals.org)
There is evidence that, although incidence is almost always associated with environmental factors such as smoking or occupational exposure, susceptibility has a genetic component with early onset lung cancer following Mendelian inheritance. (bmj.com)
Genetic association studies aimed at defining susceptibility to POAG may provide important insights into the pathogenesis of POAG. (molvis.org)
To investigate the correlation between the polymorphism of estrogen receptor β gene (ESR2) rs3020450 and cancer susceptibility, and explore the epidemiological significance and the effect of ESR2 expression levels on the prognosis of ovarian cancer. (cancerindex.org)
Based on meta-analysis the association between ESR2 rs3020450 polymorphism and cancer susceptibility was estimated and a case-control design was used to verify this result in ovarian cancer. (cancerindex.org)
The pooled analysis indicated no significant correlation between the ESR2 rs3020450 polymorphism and the cancer susceptibility. (cancerindex.org)
The overall analysis showed an increased susceptibility to cervical cancer with the − 592C/A polymorphism of the IL-10 gene for the recessive model (OR = 1.30, 95% CI = 1.14-1.49), dominant (OR = 1.36, 95% CI = 1.09-1.70) and additive (OR = 1.25, 95% CI = 1.09-1.44). (researchsquare.com)
In addition, stochastic genetic or physiologic events may contribute to the low penetrance of susceptibility genes. (biomedcentral.com)
These results suggest that genetic variations in TNF, TGFB1, PTGS1 and PTGS2 genes contribute to DA susceptibility. (cdc.gov)
Publications regarding the associations of toll-like receptor 2 (TLR2) G2258A and T597C polymorphisms with pulmonary tuberculosis (PTB) susceptibility are inconsistent. (cdc.gov)
A meta-analysis was conducted to investigate the relationship between TLR2 G2258A and T597C polymorphisms with PTB susceptibility. (cdc.gov)
A systematic search was performed for published studies on the relationship between TLR2 polymorphisms and PTB susceptibility. (cdc.gov)
The associations of T597C polymorphism with PTB susceptibility, in the ethnic-specific analyses, were still not significant. (cdc.gov)
TLR2 2258G allele may provide protective effects against PTB susceptibility, particularly among Asians, whereas TLR2 T597C polymorphism might not be associated with PTB susceptibility. (cdc.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)
Our results indicated that the prevalence of the minor allele (T) of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. (nih.gov)
Transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C/T allele was determined in vitro . (frontiersin.org)
We demonstrated that transcriptional activity of 5-HT 1A receptor promoter containing rs198585630 C allele was higher than that of 5-HT 1A receptor promoter containing T allele. (frontiersin.org)
The transcriptional activity of 5-HT 1A receptor promoter was stimulated by 30 mW/cm 2 microwave exposure, and rs198585630 C allele was more sensitive to microwave exposure, as it showed stronger transcriptional activation. (frontiersin.org)
The TNF-α (−863)A allele polymorphism may be a protective factor in the development of POAG. (molvis.org)
Based on meta-analysis and case-control pooled results, ARP and PARP were evaluated respectively in allele (21.95% and7.97%), heterozygote (36.99% and 12.11%) and dominant model (36.84% and 12.97%) of rs3020450 polymorphism in ovarian cancer. (cancerindex.org)
Conclusion: These findings suggest that the PON1-107T allele is independently associated with the risk of AIS, in addition to interacting with and potentiating the risk conferred by the Q192R polymorphism. (johnshopkins.edu)
We find that the IFNGR1-470del allele acts to suppress binding of nuclear proteins to the IFNGR1 promoter region in a manner that is specific for cell type. (ox.ac.uk)
The Q353 allele of the factor VII gene polymorphism is associated with decreased factor VII and could be protective against cardiovascular disease. (who.int)

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)
Patients were genotyped for a panel of 192 tagging polymorphisms in 34 immune-related genes. (frontiersin.org)
Polymorphisms have been previously identified for many of the UGT genes, and several recent studies have examined their potential role in tobacco carcinogenesis and in risk for tobacco-induced cancers. (aspetjournals.org)
Genetic Basis of Olfactory Cognition: Extremely High Level of DNA Sequence Polymorphism in Promoter Regions of the Human Olfactory Receptor Genes Revealed Using the 1000 Genomes Project Dataset. (helix.com)
Genes whose promoters are involved in PAIs are more actively expressed, and gene pairs with promoter-promoter interactions are enriched for co-expression. (ox.ac.uk)
Even the role of MHC genes remains to be fully defined, and may involve interactive genetic effects. (biomedcentral.com)
This situation parallels developing paradigms for other autoimmune disorders, in which many different genes each appear to contribute a small amount to overall risk for disease, and where severity and specific phenotypic subtypes are subject to genetic effects. (biomedcentral.com)
To study the polymorphisms of CYP11A1, CYP17A1, and CYP19A1 genes in women with polycystic ovary syndrome (PCOS) of reproductive age in comparison with women without PCOS.Materials and Methods. (archive.org)
The studied polymorphisms of cytochrome genes did not affect the risk of PCOS in the examined group of women. (archive.org)
Of these mediators, cytokines play a single nucleotide polymorphisms (SNP) in pro-inflammatory cytokine genes and asthma phenotypes (Che et al. (cdc.gov)
F3 contains 770 variants as a validation set including 70 SNVs in 'positive' set in non-coding regions of protein-coding genes newly reported and 700 randomly sampled common human variants, matched per type of region to the 'positive' set. (lu.se)

The PON1 C(-107)T polymorphism was determined by single-stranded conformational polymorphism analysis and the G(-824)A substitution by polymerase chain reaction and restriction enzyme digestion. (johnshopkins.edu)
METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
Three polymorphisms (i.e., rs9588884, rs982873 and rs1813389) in the promoter of miR-17-92 were analyzed among 874 cases and 1132 controls using a TaqMan allelic discrimination assay or a polymerase chain reaction-restriction fragment length polymorphism method. (oncotarget.com)
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)

Thus, we selected three widely-studied polymorphism loci (rs3213172, rs3213173, and rs3213176) to find a novel marker for the risk prediction of ovarian cancer. (hindawi.com)
Whenever individuals from around the world are clustered based on a large number of loci, invariably the major races emerge as clusters of genetic similarity. (blogspot.com)

Genetic variation in the presynaptic norepinephrine transporter is associated with blood pressure responses to exercise in healthy humans. (snpedia.com)
Together, these studies implicate UGT1A10 as an important detoxifier of polycyclic aromatic hydrocarbons in humans and that the UGT1A10 codon 139 polymorphism may be an important determinant in risk for tobacco-related cancers. (aspetjournals.org)

Pharmacogenetic studies have been also performed in order to evaluate the role of host genetic variants in the prediction of recurrence risk and response to adjuvant treatment with FLs and OXA. (frontiersin.org)
PMID 33340618 ] Association between genetic variants of the norepinephrine transporter gene (SLC6A2) and bipolar I disorder. (snpedia.com)
In studies examining UGT family 1A variants, the "TATA" box polymorphism in the promoter region of UGT1A1, commonly associated with Gilbert's syndrome, is associated with reduced function in the UGT1A1 transcriptional promoter ( Burchell and Hume, 1999 ) and is associated with decreased formation of the glucuronide conjugate of the important procarcinogenic BaP metabolite, BaP- trans -7,8-dihydrodiol (BPD), in liver microsomes ( Fang and Lazarus, 2004 ). (aspetjournals.org)
It is somewhat unclear how genetic variants affect a person's sense of smell, because olfactory systems are very difficult to recreate in the research lab. (helix.com)
Genetic variants with gene regulatory effects are associated with diisocyanate -induced asthma. (cdc.gov)
Objective: The aim of this study was to identify DA-associated functional genetic variants through next-generation sequencing (NGS), bioinformatics, and functional assays. (cdc.gov)
Results: NGS detected 130 risk variants associated with DA (3.1 × 10-6 to 6.21 × 10-4), 129 of which were located in noncoding regions. (cdc.gov)
These results demonstrate that many DA-associated genetic variants likely act by modulating gene regulation. (cdc.gov)
The NT gene (NTS) was sequenced for potential functional variants, evaluating its entire genomic and potentially regulatory regions, in DNA from 28 individuals, stratified by low and high pro-NT levels. (lu.se)
Replication studies identify several genetic variants in Arabs with obesity- linked diabetes. (who.int)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)
7948 control SNVs used for training and testing, 4044 control SNVs from HepG2, 2693 SNVs of dsQTL, 51 deSNVs and 156 enhancer SNVs in B-cells from NHGRI GWAS Catalog, 56497 GM12878 enhancer SNVs and 2029 variants in training set of dsQTL model within hotspot DHS region of non-blood cell. (lu.se)
ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning. (lu.se)

It is a deletion/insertion polymorphism that is found in Africans but not Europeans or Asians, and has been associated with resistance to severe malaria. (ox.ac.uk)
We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)
FVIIc levels with the 10 bp insertion polymorphism were not significantly different. (who.int)

Conclusion No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)

This review examined the relationship between clinical response to selective serotonin re-uptake inhibitors in patients with depression and genetic polymorphisms (SERTPR and STin2) in the serotonin transporter gene. (york.ac.uk)
Studies that assessed the relationship between treatment response and genetic polymorphism of the serotonin transporter gene were eligible for inclusion. (york.ac.uk)
We and others have previously shown that the dopamine D4 exon III repeat (D4DR) and the serotonin-transporter promoter region (5-HTTLPR) polymorphisms are not only associated with adult personality traits but also with temperament in 2-week-old neonates. (biu.ac.il)
Two years later, saliva samples were collected to look for a polymorphism in the promoter region of the serotonin transporter. (dericbownds.net)

G variation, located in the 3′-untranslated region, could be associated with low transcript abundance. (aspetjournals.org)
Large scale genetic studies have offered up some interesting insights into how our sense of smell works, though, including evidence that genetic variation in the OR2M7 gene can help determine if a person noticed an unpleasant smell in their urine after eating asparagus 3 . (helix.com)
A single-nucleotide polymorphism (SNP) is the most common type of genetic variation. (springeropen.com)
Molecular genetic tests for detecting drug-resistance are, in general, just a variation of nucleic acid amplification (NAA) tests and can reliably provide information on the presence of mutations associated with drug resistance in 1 to 2 days. (cdc.gov)

DNA constructs were cloned into a pGL3 promoter vector for luciferase gene reporter assays. (cdc.gov)
Analyses of the human AHR proximal promoter in MCF-7 human breast cancer cells using luciferase assays and electrophoretic mobility shift assays revealed multiple specificity protein (Sp) 1 binding sequences that are transcriptional activators in vitro. (umn.edu)
The AHR promoter-luciferase reporter plasmid pGL3-hAhRP was a kind gift from Drs. Sandra Wolff and Josef Abel of the Medical Institute of Environmental Hygiene at the Heinrich-Heine-University, Düsseldorf, Germany. (umn.edu)

The present study is aimed at exploring whether rs3213172, rs3213173, and rs3213176 polymorphisms of the E2F1 gene confer risk for ovarian cancer. (hindawi.com)
E2F1 gene rs3213173 and rs3213176 polymorphisms confer no risk to ovarian cancer risk. (hindawi.com)
The CT genotype of E2F1 gene rs3213172 polymorphism is associated with an increased risk of ovarian cancer, and E2F1 gene rs3213172 polymorphism may be a novel marker for the risk prediction of ovarian cancer. (hindawi.com)
The present study is to explore whether E2F1 gene polymorphisms confer risk for ovarian cancer. (hindawi.com)
Evaluation of the epidemiological and prognosis significance of ESR2 rs3020450 polymorphism in ovarian cancer. (cancerindex.org)

Genetic factors significantly influence risk for many anxiety disorders. (health.am)
Genotype distribution of the indicated polymorphisms did not differ significantly between the groups. (archive.org)
The CCR5 promoter polymorphisms were significantly associated with cervical intraepithelial neoplasia by altering the expression of CCR5 on the cell surface in a Chinese Han population. (biomedcentral.com)
Genetic factors levels vary significantly in the general pop- contribute significantly to the development ulation and are influenced by environmental of these diseases. (who.int)

To better assess the potential role of UGT1A10 in risk for tobacco-related cancers, the glucuronidation activity of UGT1A10 was compared with that of other known UGT enzymes against selected polycyclic aromatic hydrocarbons, and the effects of the codon 139 polymorphism on UGT1A10 function were examined in vitro. (aspetjournals.org)
Nous avons donc étudié l'association de deux polymorphismes - R353Q au niveau du codon 353 intervenant sur la région catalytique et le polymorphisme d'insertion de 10 paires de bases (pb) impliquant la région du promoteur - avec les taux de FVIIc chez 176 Tunisiens en bonne santé. (who.int)

In sickle cell disease patients, Genetic polymorphisms in HBS1L-MYB (rs9376090 & rs4895441) affect the level of Hb F which could improve the prognosis of these patients. (scirp.org)
This analysis indicates that the genetic background can modulate plasma levels of IL-10, and ultimately prognosis in HL. (unicatt.it)

The aim of this study was to investigate the association of polymorphisms in the promoter region of miR-17-92 cluster with the risk of colorectal cancer (CRC). (oncotarget.com)

We studied plasma levels of IL-10 and five single nucleotide polymorphisms in the interleukin-10 (IL-10) gene promoter in patients with Hodgkin lymphoma (HL) to address potential genotype-phenotype correlations. (unicatt.it)
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)

The strongest effects occurred in those infants with the s/s 5-HTTLPR polymorphism who also were lacking long D4DR alleles which in some studies has been linked to adult novelty seeking. (biu.ac.il)
Homozygous carriers of the variant alleles at position -592 (AA) and -1082 (GG) of the IL-10 promoter had higher IL-10 plasma levels, independent of male gender and advanced stage of disease which also determined increased IL-10 production. (unicatt.it)
However, for CYP11A1 (tttta)n polymorphism, a trend to the accumulation of the alleles with a large number of (tttta)n-repeats was observed in women with polycystic ovary syndrome as compared to healthy women. (archive.org)

T in the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) in Caucasians, but no information is available regarding this variant in the Chinese population. (nih.gov)
The relationships between the Arterial and venous thrombosis, which clinical presentation and FVII levels and the clinically manifest as stroke, myocardial in- associated molecular genetic defects lack farction or pulmonary embolism are a ma- apparent consistency [ 7,10 ]. (who.int)

In this study, we evaluated whether the single-nucleotide polymorphism (SNP) rs198585630 of 5-HT 1A receptor is associated with cognitive alterations in rats after microwave exposure with a frequency of 2.856 GHz and an average power density of 30 mW/cm 2 . (frontiersin.org)
Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. (snpedia.com)
Our findings indicated that TT, as the two-single-nucleotide polymorphism haplotype in promoter region of CYP11B2 gene, is associated with plasma aldosterone concentration in the southern population of Iran. (ephysician.ir)
These findings suggest a mechanism by which a single genetic variant may cause a broad range of phenotypic consequences. (ox.ac.uk)
Of these, 13 were initiated by a single genetic variant and generated reliable estimates of time since infection (median=47 [IQR=35] days). (cdc.gov)

Interindividual variability in PON1 levels is determined by the Q192R and L55M coding region polymorphisms and by 2 recently described polymorphisms in the promoter of the PON1 gene, C(-107)T and G(-824)A. Objectives: To determine the association of the PON1 promoter polymorphisms with arterial ischemic stroke (AIS) in the young. (johnshopkins.edu)
furthermore, by studying different biogeographical populations, conservation of the coding region of the MRP3 gene and variability (polymorphism) in its promoter region were found (Russo et al. (szn.it)
Variability of the promoter region of CCR5 gene might be the reason for differing CCR5 expression levels. (biomedcentral.com)

The aim of this study was to explore potential associations between genetic polymorphisms of HMGB1 and EGFR mutations in a cohort that included 280 patients with NSCLC, some of whom were smokers and others who never smoked. (jcancer.org)
For example, approximately 95% of rifampin-resistant M. tuberculosis strains carry mutations within the rifampin-resistance determining region (RRDR), an 81-bp region encoding codons 507 through 533 of the rpoB gene. (cdc.gov)

The genetic basis for rheumatoid arthritis (RA) is likely to be extremely complex. (biomedcentral.com)

deletion) located approximately 400Kb upstream to IGFBP5, which overlaps an intergenic ERα-bound enhancer that loops to the IGFBP5 promoter. (duke.edu)

Context-specific functional effects of IFNGR1 promoter polymorphism. (ox.ac.uk)
We report evidence of a polymorphism in the promoter region of IFNGR1 (encoding interferon-gamma receptor 1) that has opposite functional effects in different cellular contexts. (ox.ac.uk)
4462 functional sequence variations in regulatory DNA regions in training dataset F1 and 1116 functional SNVs in test datasets F2. (lu.se)

Promoter-anchored chromatin interactions (PAIs) play a pivotal role in transcriptional regulation. (ox.ac.uk)
These findings indicate that the rs9588884 GG and the rs982873 CC in the promoter of miR-17-92 may protect against CRC, possibly by decreasing transcriptional activity and eventually resulting in lower levels of miR-20a and miR-17. (oncotarget.com)

Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)

On the other hand, although -344T/C and -470C/T polymorphisms showed no association with PAC (p=0.97, OR=1.00 and p=0.70, OR=0.98, respectively), a significant relationship was found between the H3 haplotype (TT) and PAC (p=0.039, OR=1.29). (ephysician.ir)

A decade later, molecular genetic tools have improved methods for protein identification. (wikipedia.org)
METHODS: HIV genetic diversity was investigated in all 17 PrEP breakthrough infections and in 16 placebo recipients. (cdc.gov)

Our aim was to integrate our previously reported clinical-genetic prognostic score with new immunogenetic markers of 5-year disease-free survival (DFS) to evaluate the recurrence risk stratification before fluoropyrimidine (FL)-based adjuvant therapy. (frontiersin.org)
The integration of IFNG -rs1861494 in our previous clinical genetic multiparametric score of DFS improved the patients' risk stratification (Log-rank P = 0.0026 in the pooled population). (frontiersin.org)
PMID 17630229 ] Norepinephrine transporter polymorphisms T-182C and G1287A are not associated with alcohol dependence and its clinical subgroups. (snpedia.com)
Recent clinical and genetic evidence suggests that it can be classified into 4 subtypes, which may have distinct clinical profiles. (psychiatrist.com)
[ 16 ] Coupled with this genetic heterogeneity is considerable clinical heterogeneity, as illustrated by substantial differences in the extent and quality of symptoms. (medscape.com)
The difficulty of precisely defining the clinical phenotype, as well as underlying genetic heterogeneity, complicates the problem. (biomedcentral.com)

None of the immunogenetic polymorphisms studied was predictive of response to immunosupressive therapy. (haematologica.org)

It might have an important polymorphic association at the promoter regions of several MMPs such as MMP-1 (-1607 1G/2G), MMP-2 (-1306 C/T), MMP-3 (-1171 5A/6A), MMP-9 (-1562 C/T) and TIMP-2 (-418 G/C or C/C). Tissue inhibitors of metalloproteinases (TIMPs) are naturally occurring inhibitors of MMPs, which inhibit the activity of MMPs and control the breakdown of ECM. (biomedcentral.com)
Upon further examination of the GC-rich Sp1-binding region, we confirmed that it contains a polymorphic (GGGGC) n repeat. (umn.edu)
Only the control group showed significant results for the probing depth according to the polymorphic region. (bvsalud.org)

citation needed] VMAT gene sequence analysis demonstrates that four aspartic acid residues in the middle region of TMDs I, VI, X, and XI and one lysine residue in TMD II have highly conserved gene sequences, suggesting these residues play a critical role in transporter structure and function. (wikipedia.org)
PMID 15722184 ] Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panic disorder. (snpedia.com)
Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depression. (snpedia.com)
PMID 23648227 ] Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182C and G1287A: a meta-analysis. (snpedia.com)
Promoter-anchored chromatin interactions predicted from genetic analysis of epigenomic data. (ox.ac.uk)
Analysis of the AHR proximal promoter region using chromatin immunoprecipitation confirmed that enhanced expression of AhR in LTEE cells involves changes in histone modifications, notably decreased trimethylation of histone 3, lysine 27. (umn.edu)
The project aims to study the genetic controls and the molecular mechanisms involved in sex regulation in different species belonging to the genus Pseudo-nitzschia, by studying the genome and transcriptome of strains with different MT, also using genetic transformation, protein analysis and epigenetic analysis tools. (szn.it)

For the hybridization assays, the region of the target gene associated with resistance is PCR amplified, and the labeled PCR products hybridized to oligonucleotide probes immobilized on a nitrocellulose strip or in a microarray. (cdc.gov)

Previously, classical genetic studies involving cross breeding of mouse strains with differing susceptibilities have identified chromosomal areas associated with predisposition to developing spontaneous and chemically induced lung adenomas. (bmj.com)
Our study objectives were to assess the evidence for genetic involvement in the rate of lung function decline in a population of firefighters. (cdc.gov)
Future studies in firefighters have been proposed to evaluate the interaction between exposure to products of combustion and genetic polymorphisms in relation to decline in lung function. (cdc.gov)
We analyzed the harmonized database of the Lung Cancer Cohort Consortium (LC3) to assess the relationship between socioeconomic status and lung cancer incidence across different world regions. (who.int)

Both genetic and environmental factors are thought to contribute to the pathophysiology of the disease. (molvis.org)
2017 ). It appears from their investigations that genetic factors seem to exert a significant influence on the carcinogenesis of the cervix. (researchsquare.com)
Anxiety disorders appear to be caused by an interaction of biopsychosocial factors, including genetic vulnerability, which interact with situations, stress, or trauma to produce clinically significant syndromes. (health.am)
10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)
The host genetic factors are assumed to play a critical role in tuberculosis pathogenesis, through impact on the gene expression of cytokines and chemokines, which are implicated in the host immune response. (cdc.gov)
This review summarizes the major pathological factors linking obesity to diabetes, focussing on current epidemiological data related to obese diabetic patients in the Arab world, the etiology of the disease and the genetic determinants of diabetes and obesity. (who.int)

Association of Common Genetic Polymorphisms with Melanoma Patient IL-12p40 Blood Levels, Risk, and Outcomes. (duke.edu)
Lys) polymorphism was previously implicated in risk for orolaryngeal cancer by Elahi et al. (aspetjournals.org)
The epidemiological effect of ESR2 rs3020450 polymorphism was assessed by attributable risk percentage (ARP) and population attributable risk percentage (PARP). (cancerindex.org)
Eleven available studies, including 4187 cases and 3311 controls were included in this study investigating the relationship between the − 592C/A polymorphism of IL-10 and cervical cancer risk. (researchsquare.com)
-592C/A polymorphism of IL-10 gene may be considered a risk factor for cervical cancer. (researchsquare.com)
Genome-wide association studies (GWAS) have implicated the region on chromosome 5p14.1 between CDH9 and CDH10 as the first potential common genetic risk factor in Caucasian populations. (medscape.com)
A comparison of disease prevalence rates in populations of individuals with different degrees of genetic relatedness can be used to calculate risk ratios, or λ. (biomedcentral.com)
ABSTRACT Factor VII gene polymorphisms may contribute to elevations in factor VII coagulant (FVIIc) levels that have been associated with cardiovascular risk. (who.int)

Also, a significant association was detected between polymorphisms and disease severity. (scirp.org)
PMID 32339102 ] Age-dependent association of polymorphisms in the promoter and 5'-untranslated region of the norepinephrine transporter gene with generalized anxiety disorder. (snpedia.com)
In this study we investigated the possible association between the TNF-α (−863) polymorphism and the development of POAG. (molvis.org)
The association of PAC with each one of the polymorphisms and haplotypes was also analyzed by multinomial logistic regression. (ephysician.ir)
The aim of this study was to illustrate the association between the polymorphisms of the CCR5 promoter and the development of cervical cancer. (biomedcentral.com)
Recently several reports have cleotide (designated as 0/10 bp) in the pro- focused on the association between the moter region of the gene at position -323 factor VII of the cascade coagulation and [ 13,14 ]. (who.int)

In regions of the world such as Central Asia, East Africa, or Latin America where traditional physical anthropology has believed that intermixture of races has created mixed-race populations, genetics has invariably shown the hybridity of these populations. (blogspot.com)
However, it is recognized that the sample size is at present too small to exclude any competing hypothesis about a possible North African genetic contribution to the genesis of the Iberian peninsula populations. (blogspot.com)
Phylogeographic analyses show that the haplogroup composition of the ancient Iberians was very similar to that found in modern Iberian Peninsula populations, suggesting a long-term genetic continuity since pre-Roman times. (blogspot.com)

The review assessed treatment response using the Hamilton Rating Scale for Depression (21 and 24-item HAM-D) or the Montgomery Asberg Depression Rating Scale (MADRS), and response rates in relation to SERTPR (s/s, s/l and l/l genotypes) and STin2 (10/10 and 10/12 genotypes) polymorphisms. (york.ac.uk)

Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with β -thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. (scirp.org)
The aim of this study is to evaluate endothelial function in patients with primary hyperparathyroidism (pHT) during the preoperative hypercalcemic and postoperative normocalcemic periods and to determine whether intron 4a/b polymorphism of eNOS gene influences endothelial function. (endocrine-abstracts.org)
Patients and controls were genotyped for the A/C polymorphism at position −863 of the TNF-α gene promoter region. (molvis.org)
Polymorphisms in the promoter region of the apolipoprotein E gene (APOE) affect the amount of amyloid peptide (A beta) in the brains of patients with Alzheimer's disease. (birmingham.ac.uk)
Objective 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)
La présente analyse récapitule les facteurs pathologiques majeurs liant l'obésité au diabète, en se concentrant sur les données épidémiologiques actuelles relatives aux patients diabétiques obèses dans le monde arabe, l'étiologie de la maladie et les déterminants génétiques du diabète et de l'obésité. (who.int)

Se analizaron los expedientes de 6207 mujeres atendidas en el HGSZ/UMF No. 8, en Tlaxcala, con citologías vaginales de primera vez, durante 2019-2021. (bvsalud.org)

Mendelian regulatory variations including 42 enhancer, 142 promoter, 153 5' UTR, 43 3' UTR, 65 RNA gene, 3 imprinting control region, and 5 microRNA gene variations. (lu.se)

We measured A beta load immunohistochemically in regions 8 and 9 of Brodman's area in 74 people with Alzheimer's disease. (birmingham.ac.uk)

2015 ). The significance of the IL-10 gene in the control of immune-mediated illness responses has resulted in the discovery of numerous polymorphisms in different portions of the gene, including the promoter region (Eskdale et al. (researchsquare.com)
Results Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)

No significant difference between groups was found regarding the G(-824)A polymorphism. (johnshopkins.edu)

The aim of this study was to determine the possible genetic regulation of plasma pro-NT. (lu.se)
Our study may be useful for the further meta-analyses related to the genetic predisposition to PCOS. (archive.org)

Circular dichroism spectroscopy revealed the ability of sequences of this GC-rich region to form guanine-quadruplex structures in vitro. (umn.edu)

Moreover, analyses on conserved non-coding region have shown that non-coding DNA is involved in biological functions (Alexander et al. (springeropen.com)

Anatomy10

Organisms8

Diseases4

Chemicals and Drugs91

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Phenomena and Processes110

Disciplines and Occupations4

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups2

Health Care7

Geographicals3

SNPs13

Susceptibility19

Allele10

Genes11

Polymerase chain re4

Loci2

Humans2

Variants13

Insertion polymorphism3

Conclusion1

Serotonin4

Variation4

Luciferase3

Ovarian cancer5

Significantly4

Codon2

Prognosis2

Colorectal Cancer1

Genotype2

Alleles3

Pulmonary2

Single6

Variability3

Mutations2

Rheumatoid arthritis1

Deletion1

Functional3

Transcriptional2

Intergenic1

Haplotype1

Methods2

Clinical6

Immunogenetic1

Polymorphic3

Analysis7

Assays1

Lung4

Factors6

Risk8

Association6

Populations3

Genotypes1

Patients6

20191

Enhancer1

Disease1

Significance2

Found1

Study2

Vitro1

Analyses1