• All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. (scielo.br)
  • Previous genetic risk studies have failed to identify consistently linked regions or genes outside of the major histocompatibility complex on chromosome 6p. (researchgate.net)
  • Different genotypes of several genetic polymorphisms of certain genes, at least in part, might be accounted for susceptibility to COVID-19 infection. (degruyter.com)
  • Present study was designed to explore the genetic diversity of plasmodium vivax genotypes based on Pvmsp-3α and Pvmsp - 3β genes using allelic specific nested PCR and RFLP assays markers from field isolates in district Mardan, Pakistan. (scielo.br)
  • For analysis the genetic diversity of the sub allelic variants of Pvmsp3α and Pvmsp3β genes, Chi-Square test was performed by utilizing Minitab programming software 18. (scielo.br)
  • Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. (snpedia.com)
  • Genetic Polymorphism of Plasmodium Falciparum Merozoite Surface Protein-1 and 2 and Diversity of Drug Resistance Genes in Blood Donors from Bamako, Mali. (rit.edu)
  • The identification of single nucleotide polymorphisms (SNPs) in cytokine/cytokine receptor genes is a common theme in the literature yet only a few of these SNPs have been partially characterized in function. (jhu.edu)
  • 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)
  • Background: As microRNAs play important roles in cancer development and progression by regulating the expressions of oncogenes and tumor suppressor genes though interacting with the 3' untranslated region (UTR) of target genes, we aimed to evaluate the association between genetic variants of miRNAs and their binding sites and prognosis in patients with colorectal cancer (CRC). (iiarjournals.org)
  • For CRC, polymorphisms in the genes involved in tumor progression, apoptosis, and angiogenesis have already been extensively studied for their association with cancer susceptibility and prognosis ( 1 - 7 ). (iiarjournals.org)
  • According to the numbers and types, KIR haplotypes are broadly classified into two groups: group A haplotypes have a fixed KIR gene ( 2DL1 , 2DL3 - 4 , 3DL1 - 3 , 2DS4 , 2DP1 and 3DP1 ), in contrast, group B haplotypes have variations in genetic content which is comprised of several genes and alleles that are not found in A haplotypes. (biomedcentral.com)
  • 2 Several such genetic alterations have been characterized in candidate genes encoding molecules important for pain transmission, which result in impaired function of these gene products to ultimately impact the efficacy and side effect profiles of several analgesics, thus defining the active field of pharmacogenomics in pain medicine. (ahdbonline.com)
  • Several normal variants (polymorphisms) in complement system-related genes are associated with an increased likelihood of developing C3 glomerulopathy. (medlineplus.gov)
  • It is a form of genotyping, which is the measurement of more general genetic variation. (wikipedia.org)
  • SNPs are one of the most common types of genetic variation. (wikipedia.org)
  • Hence, our study demonstrates that clinical practice can be informed by comparing GWAS across common autoimmune diseases and by investigating the functional consequences of the disease-associated genetic variation. (researchgate.net)
  • This article sets out the path that needs to be taken to build a framework to translate gene-nutrient interaction studies into best-practice guidelines, providing tools that health professionals can use to understand whether genetic variation affects nutritional requirements in their daily clinical practice. (mdpi.com)
  • Crossing of selected palms from highly differentiated progenies could generate offsprings with more genetic variation. (academicjournals.org)
  • However, the extent to which standing genetic variation in thermal tolerance alleles influence dynamic stress responses vs. preparatory processes is unknown. (frontiersin.org)
  • To test our hypotheses, we measured the critical thermal minimum (CT min ) and critical thermal maximum (CT max ) of 100 lines of the Drosophila Genetic Reference Panel (DGRP) and used GWAS to identify loci that explain variation in thermal limits. (frontiersin.org)
  • Genetic variation in thermal tolerance is well-documented (e.g. (frontiersin.org)
  • The lack of homogeneity between the EPSPS cassette in resistant biotypes and the genome of sensitive plants may have resulted from non-homologous end joining and genome reshuffling events to induce new genetic variation. (usda.gov)
  • Accordingly, my work addresses the basic mechanisms of IL-10 gene expression and the application of these data to allelic variation. (jhu.edu)
  • Variations in abundance: genome-wide responses to genetic variation. (biomedcentral.com)
  • How do naturally occurring polymorphisms in DNA sequence relate to variation in gene expression? (biomedcentral.com)
  • Recent work to map genetic sources of expression variation has shown a surprising balance between cis and trans effects. (biomedcentral.com)
  • With the advancement of pharmacogenomic technologies, genetic variation has been identified to contribute to individual response to antidepressants. (researchsquare.com)
  • The genetic basis of the variation has not been established. (uhi.ac.uk)
  • Studies of the inheritance of the variation and of liver enzyme levels carried out indicate that the variation, as in rainbow trout Onchorynchus mykiss, reflects co-dominant allelic variation at a cis-acting regulatory locus, designated PGM-1r*, with one allele promoting and the other suppressing expression. (uhi.ac.uk)
  • Constitutional host-related biological features, including genetic variation, have long been suspected to explain why some patients treated for CRC experience relapse while others do not, despite their having similar baseline characteristics. (iiarjournals.org)
  • Killer cell immunoglobulin-like receptors (KIRs) show extensive variation in genetic content and allelic polymorphi sms among different populations. (biomedcentral.com)
  • Tibetans were different from Kazakh and Uyghur groups in KIR genetic content and KIR allelic variation. (biomedcentral.com)
  • Potential association of DRD2 and DAT1 genetic variation with heroin dependence. (cdc.gov)
  • SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. (wikipedia.org)
  • SNPs can also provide a genetic fingerprint for use in identity testing. (wikipedia.org)
  • We want to investigate whether the single nucleotide polymorphisms (SNPs) of the Ang2 gene can predict the risk of rheumatoid arthritis (RA). (medsci.org)
  • Single nucleotide polymorphisms (SNPs) denote the single nucleotide variations occurring at specific sites in the genome with substantial frequency within the population [ 1 , 9 , 10 ]. (medsci.org)
  • We genotyped the two ADIPOQ SNPs in 140 unrelated T2DM patients and 66 nondiabetic controls using the polymerase chain reaction-restriction fragment length polymorphism assay. (who.int)
  • Genotypes of three single nucleotide polymorphisms (SNPs) of LOXL1 (rs1048661, rs3825942, and rs2165241) were analyzed with direct sequencing, and a case-control association study was performed. (molvis.org)
  • The risk alleles of these SNPs were similar to those of other Asian populations, such as Japanese or Chinese, but differed from non-Asian populations, suggesting that still unidentified genetic or environmental factors may contribute to disease expression. (molvis.org)
  • All the possible genotypes for both single nucleotide polymorphisms (SNPs) were identified. (ajol.info)
  • Here we have investigated a single nucleotide polymorphism (SNP) in the TNFRSF1A gene, that encodes tumour necrosis factor receptor 1 (TNFR1), which was discovered through GWAS to be associated with multiple sclerosis (MS), but not with other autoimmune conditions such as rheumatoid arthritis, psoriasis and Crohn's disease. (researchgate.net)
  • Identification of Single Nucleotide Polymorphisms in the Agouti Signaling Protein (ASIP) Gene in Some Goat Breeds in Tropical and Temperate Climates. (rit.edu)
  • 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)
  • 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)
  • The authors reported correlation between the frequency of the Del allele of the ACE Ins/Del polymorphism and prevalence and mortality rates of COVID-19 in 33 countries (25 European, three north-African and five Middle East countries). (degruyter.com)
  • Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. (snpedia.com)
  • This 27 population is ideal for genome-wide association studies (GWAS) due to the accumulated recombinations 28 among well-defined haplotypes, the relatively high allele frequencies, access to a large collection of tissue 29 samples, and the large allelic effect size compared to human studies. (nih.gov)
  • Moreover, some population genetic indexes, namely: gene heterozygosity (He), gene homozygosity (Ho), effective allele numbers (N e ), fixation index (F IS ) and polymorphism information content (PIC) were calculated. (ajol.info)
  • In order to assess the involvement of the HMGCR polymorphism in the risk of late-onset AD (LOAD) in northern Han Chinese, we performed a case-control study of 2334 unrelated subjects (984 cases and 1350 age- and gender-matched controls) to evaluate the genotype and allele distributions of the HMGCR rs3846662 with LOAD. (oncotarget.com)
  • Until now, only the ε4 allele of apolipoprotein E ( APOE ) gene has been identified unequivocally as a major genetic factor to LOAD. (oncotarget.com)
  • Groups were compared on clinical and laboratory characteristics as well as allele and genotype distribution towards ApoE polymorphism. (biomedcentral.com)
  • Post-PCR genomic DNA sequencing revealed MTHFR C677T and MTHFR A1298C genotypes and TS polymorphisms. (medscimonit.com)
  • genotypes from these divergent haplotypes can be used in pea resistance breeding to avoid genetic homogeneity and genetic vulnerability. (nature.com)
  • Estimation of the level of genetic susceptibility showed that the individual calculated risk value (iCRV) ranged from 1 to 16, with a higher iCRV indicating a greater genetic susceptibility to lung cancer. (scielo.br)
  • This study aimed to explore the associations between MTHFR or TS genetic polymorphisms and susceptibility to acute lymphocytic leukemia (ALL) in children. (medscimonit.com)
  • This paper provides a brief presentation on the genetics of multiple sclerosis susceptibility and on current work that uncovers the cellular effects, immunological and non-immunological, associated with genetic risk variants. (researchgate.net)
  • The fact that genetic factors account for about 60% of the overall susceptibility to RA highlights the importance of research into genetic aberrations of this disease [ 3 , 6 - 8 ]. (medsci.org)
  • Thomas, Bolaji N. "Genetic Diversity of CD14 Promoter Gene Polymorphism (rs2569190) is Associated With Regulation of Malaria Parasitemia and Susceptibility to Plasmodium falciparum Infection. (rit.edu)
  • Further complicating the issue is the exciting prospect that allelic variants in the genome are likely to regulate disease susceptibility and resistance by influencing the level of expression of a particular gene or gene cluster. (jhu.edu)
  • The identification of genetic variants may serve as both markers for disease susceptibility and ultimately as targets for therapeutic intervention. (jhu.edu)
  • Conclusion s : The present study suggests that the SLC6A4 rs140701 polymorphism variant may be associated with susceptibility to PD, and 5-HTTLPR polymorphism may be a predictor of response to sertraline in the treatment of PD. (researchsquare.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)
  • If there is an inverse relationship between the allelic frequency of Del and the prevalence of COVID-19, the prevalence and mortality of the disease in Eastern Asians are expected to be higher than in European populations. (degruyter.com)
  • If data of Asian and European countries were used for analysis, it seems that we would observe no correlation between the ACE Ins/Del polymorphism and the prevalence of COVID-19 infection or the mortality due to COVID-19. (degruyter.com)
  • The prevalence of VDR polymorphisms in 4 restriction fragment length polymorphism sites including Bsm I, Fok I, Apa I and Taq I were analysed in patients and controls. (who.int)
  • Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. (snpedia.com)
  • Interpreting the functional significance of genetic polymorphisms in natural populations poses a major challenge. (biomedcentral.com)
  • However, assigning functional significance to individual polymorphisms at the level of either sequence or expression is a different problem. (biomedcentral.com)
  • The purpose of this study was to evaluate functional genetic polymorphisms of physiologic pathways related to the regulation of the cardiovascular function (alpha-adrenergic receptors, endothelial nitric oxide synthase and bradykinin B2 receptor) and exercise muscle vasodilatation in apparently healthy men and women. (scipedia.com)
  • There is however, a bottleneck between genetic haplotypes and the characterization of physiological/immunological mechanisms that mediate complex disease phenotypes. (jhu.edu)
  • The allelic frequencies at Pit-1/TaqI locus were 0.76 (G) and 0.24 (A), while those at Pit-1/HinfI locus were 0.70 (B) and 0.30 (A). Combined genotypic frequencies and possible haplotypes frequencies were also reported. (ajol.info)
  • Contribution of Genetic Polymorphisms and Haplotypes in DRD2, BDNF, and Opioid Receptors to Heroin Dependence and Endophenotypes Among the Han Chinese. (cdc.gov)
  • The genetic variability of this population was distributed in six clusters that were defined based on their genetic characteristics. (scielo.br)
  • The genetic structure and variability was described among 52 oil palm inter-population crosses after two selection cycles using simple sequence repeats markers (SRR). (academicjournals.org)
  • On the basis of allelic variability indices, three genetically diverse progenies (P1, P2 and P5) with estimates higher than the overall mean values were identified. (academicjournals.org)
  • It is possible that genetic polymorphisms in CBR1 and CBR3 are key for the wide interindividual variability in the disposition of CBR drug substrates. (aspetjournals.org)
  • Muscle vasodilatation during exercise has been associated with cardiovascular health and may be influenced by genetic variability. (scipedia.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)
  • The implications of genetic variations in shaping individual nutritional requirements have been recognised and conclusively proven, yet routine use of genetic information in nutrition and dietetics practice is still far from being implemented. (mdpi.com)
  • Five identified allelic polymorphisms also affect plasma levels of factor VII and factor VIIa, with variations of as much as 25-30% in levels of activity and antigen. (medscape.com)
  • A synthetic view from these experiments would suggest that gene expression is not randomly distributed along chromosomes, that variations in mRNA and protein expression within a single species result from a surprising balance between polymorphisms acting in cis and polymorphisms acting in trans to the regulated gene, and consequently that relatively few adaptive changes could have major impacts in remodeling gene expression patterns over the course of evolution. (biomedcentral.com)
  • 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)
  • In addition to interindividual differences, interethnic differences that are attributable to genetic variations have also been documented. (ahdbonline.com)
  • Multilocus sequence typing (MLST) is the use of DNA sequences at multiple housekeeping loci to characterize genetic variations of natural populations of a bacterial pathogen ( 1 , 2 ). (cdc.gov)
  • We examined genetic and metabolic markers of altered oestrogen metabolism in subjects with a BMPR2 mutation. (ersjournals.com)
  • To test this, we studied the relationship between the CYP1B1 Asn453Ser ( N453S ) genetic polymorphism and FPAH penetrance in BMPR2 mutation carriers 19 . (ersjournals.com)
  • The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP) methods. (researchgate.net)
  • Genetic diversity in nested PCR products was determined by Restriction Fragment Length Polymorphism (RFLP) utilizing Alu1 and PstI restriction enzymes for alpha and beta gene products digestion, respectively. (scielo.br)
  • DNA was extracted from fresh-frozen tissues of 344 patients with CRC who underwent curative surgery and genotyping analyses were performed using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. (iiarjournals.org)
  • Screening of genetic variants was done employing the restriction fragment length polymorphism-polymerase chain reaction method. (hindawi.com)
  • C (rs2070744), eNOS Glu298Asp (rs1799983) and BDKRB2 (rs5810761) polymorphisms were assessed by polymerase chain reaction followed by high resolution melting analysis. (scipedia.com)
  • T polymorphism was analyzed by PCR-restriction fragment length polymorphism. (biomedcentral.com)
  • Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)
  • It should be noted that based on previous studies the Del allelic frequencies in eastern Asian populations, such as in Chinese, Korean, Taiwanese and Japanese, are lower than in European populations [ 6 ]. (degruyter.com)
  • The frequency of these polymorphisms differs among ethnic populations (8). (123dok.net)
  • Remaining to be tested are how such factors as natural selection, low recombination rate, and genetic drift due to geographic structuring contribute to the formation and maintenance of these clonal complexes in natural bacterial populations ( 3 , 4 ). (cdc.gov)
  • We pinpointed a single nucleotide polymorphism in CBR3 ( CBR3 V244M) that encodes for a V244 to M244 change. (aspetjournals.org)
  • These studies demonstrate that the common CBR3 V244M polymorphism encodes for CBR3 isoforms with distinctive enzymatic properties. (aspetjournals.org)
  • The Angiopoietin-2 (Ang2) gene encodes angiogenic factor, and the polymorphisms of Ang2 gene predict risk of various human diseases. (medsci.org)
  • Genetic Diversity and Allelic Frequency of Glutamate-Rich Protein (GLURP) in Plasmodium Falciparum Isolates from Sub-Saharan Africa. (rit.edu)
  • these individuals show an increased frequency of CYP2D6*3, CYP2D6*4, CYP2D6*5, or CYP2D6*6 genetic alterations. (ahdbonline.com)
  • Materials and Methods: Three miRNA variants and four variants in the miRNA binding sites were selected based on allelic frequencies, while their potential impact has been described in previous studies. (iiarjournals.org)
  • Due to its 24 complex, multifactorial nature, genetic predisposition is not completely understood thus, there is an urgent 25 need for additional investigations into the genetic regulation of IOP. (nih.gov)
  • PMID 21258267 ] Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage. (snpedia.com)
  • Genotyping-by-sequencing was used to obtain ~3.5M single nucleotide polymorphisms from each 32 individual. (nih.gov)
  • Additional evaluation of HLA-A promoter and exon 1 sequences did not detect any unexpected single nucleotide polymorphisms that could suggest differential allelic expression. (cdc.gov)
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
  • No significant differences in the allelic or genotypic distribution between schizophrenics and controls were observed. (nature.com)
  • Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study. (cdc.gov)
  • Genetic factors significantly influence risk for many anxiety disorders. (health.am)
  • The eNOS rs2070744 polymorphism was significantly associated with forearm vascular conductance during exercise in women. (scipedia.com)
  • The ADRA2A rs553668 polymorphism was significantly associated with forearm vascular conductance during exercise in men. (scipedia.com)
  • Furthermore, very few polymorphisms were identified among the resistant individuals suggesting allelic imbalance. (usda.gov)
  • Extensive Ethnogenomic Diversity of Endothelial Nitric Oxide Synthase (eNOS) Polymorphisms. (rit.edu)
  • eNOS rs207074 polymorphism in women and ADRA2A rs553668 polymorphism in men were associated with the increase of forearm vascular conductance during handgrip exercise. (scipedia.com)
  • These findings suggest that eNOS and ADRA2A genetic polymorphisms may be potential markers of exercise muscle vasodilatation. (scipedia.com)
  • R. Nunes, L. Barroso, A. Pereira, M. Rondon, C. Negrão, J. Krieger and A. Mansur, Alpha2A-adrenergic receptor and eNOS genetic polymorphisms are associated with exercise muscle vasodilatation in apparently healthy individuals, IJC Heart & Vasculature (2016). (scipedia.com)
  • Perhaps the best documented correlation of a linked SNP to the presence or absence of the Alu insertion represented by the I/D ACE polymorphism is rs4343 . (snpedia.com)
  • Then, we analyzed the correlation between these gene polymorphisms and response to sertraline drug. (researchsquare.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)
  • Conclusions/Significance: HLA-A allelic product encoded by A*3201 is likely to be functionally important to GBM. (cdc.gov)
  • The analysis of genetic factors other than CFTR may help our understanding of genotype-phenotype relationships in CF. As human leukocyte antigen (HLA) class II polymorphism has been associated with a number of diseases including autoimmune and inflammatory diseases, asthma, and allergy, we investigated the possibility that HLA polymorphism contributes to CF-associated pulmonary inflammation. (nih.gov)
  • A few studies have investigated the association between the 5-HTT linked polymorphic region (5-HTTLPR), 5-HTR1A rs6295, 5-HTR2A rs6313, COMT rs4680 polymorphisms and PD[8-16]. (researchsquare.com)
  • RAS gene polymorphisms, classical risk factors and the advent of coronary artery disease in the Portuguese population. (snpedia.com)
  • Investigations to determine the contribution by factor VII polymorphisms, other hemostatic proteins, and environmental factors have not yielded specific predictors of bleeding risk. (medscape.com)
  • The aim of the present study was to examine the association of serotonin-related gene polymorphisms with PD risk. (researchsquare.com)
  • Lys) polymorphism was previously implicated in risk for orolaryngeal cancer by Elahi et al. (aspetjournals.org)
  • 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)
  • 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)
  • No clear link between VKORC1 genetic polymorphism and the risk of venous thrombosis or peripheral arterial disease. (123dok.net)
  • 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)
  • Association between dopamine D2 receptor gene polymorphisms and the risk of heroin dependence. (cdc.gov)
  • immune destruction of insulin-pro- vestigate the relationship of VDR gene ducing beta cells by T-cell infiltration polymorphism to the risk of type 1 DM DNA isolation and PCR experiments of the pancreatic islets [1]. (who.int)
  • While these polymorphisms increase the risk of C3 glomerulopathy, many people who inherit these genetic changes will never develop the condition. (medlineplus.gov)
  • However, APOE alone can only explain less than 50% of the genetic component of LOAD [ 3 ]. (oncotarget.com)
  • Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
  • 40(80%) of type A (1.5-2.5 kb), 9 (18%) of type B (1.0-1.5kb) and 1(2%) of type C (0.65 kb) which could be characterized into 6 allelic patterns (A1-A3, B1-B2, and C1). (scielo.br)
  • Genetic epidemiology of glioblastoma multiforme: confirmatory and new findings from analyses of human leukocyte antigen alleles and motifs. (cdc.gov)
  • Gamma-carboxylation is essential for the biological activity of clotting factors (factors II, VII, IX and X, and proteins C, S, and Z). Genetic and acquired disorders of some of these factors are linked to venous thromboembolism (VTE). (123dok.net)
  • Our genetic and biochemical results suggest that imbalanced oestrogen metabolism may contribute to the pathogenesis of FPAH, and that further analysis of this pathway may lead to new biological markers and therapeutic treatments for all forms of PAH. (ersjournals.com)
  • To date, the main prognostic factor used in clinical practice is the tumor stage, yet several molecules and genetic alterations have also been introduced as potential markers. (iiarjournals.org)
  • Factor VII plasma levels are influenced by both environmental and genetic factors. (medscape.com)
  • Elevated intraocular pressure (IOP) is influenced by environmental and genetic factors. (nih.gov)
  • however, it University of Medical Sciences and in environmental and genetic factors. (who.int)
  • Although there has been much success in identifying genetic variants associated with common diseases using genome-wide association studies (GWAS), it has been difficult to demonstrate which variants are causal and what role they have in disease. (researchgate.net)
  • ABSTRACT Reported associations between vitamin D receptor (VDR) polymorphism and type 1 diabetes mellitus vary across ethnic groups. (who.int)
  • Hybridization and introgression have important consequences in evolution, such as increasing the genetic diversity and adaptive potential of a species. (unboundmedicine.com)
  • In this article, an overview of prominent genetic alterations underlying interpatient diversity and their clinical relevance in pain management is presented. (ahdbonline.com)
  • PMID 23065222 ] Association of angiotensin-converting enzyme gene 2350 G/A polymorphism with diabetic retinopathy in Chinese Han population. (snpedia.com)
  • The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 ( LOXL1 ) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. (molvis.org)
  • The SLC6A4(rs140701, rs3813034, 5-HTTLPR and STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 gene polymorphisms were genotyped and assessed for the potential association. (researchsquare.com)
  • The results of this study will contribute in future studies about the genetic structure of parasite and vaccine development against the malaria. (scielo.br)
  • Verspoor, E & Moyes, CD 2005, ' Evidence for co-dominant allelic expression of a phosphoglucomutase regulatory locus polymorphism in the Atlantic salmon ', Journal of Fish Biology , vol. 67, no. s1, pp. 213-218. (uhi.ac.uk)
  • An ectotherm's thermal tolerance is determined by both fixed genetic factors and plastic changes in behavior, morphology, physiology, and gene expression. (frontiersin.org)
  • Clinical, genetic, and biochemical findings in two siblings with Papillon-Lef vre Syndrome. (lu.se)
  • In comparison with a species tree based on 20 unlinked nuclear loci, we determined that mtDNA divergences were too recent to be explained by ancestral polymorphism. (unboundmedicine.com)
  • The purpose of this study was to identify 30 genetic loci underlying elevated IOP using HS rats. (nih.gov)
  • The genetic homogeneity of ospC -A isolates was confirmed by sequences at 6 additional chromosomal housekeeping loci ( gap, alr, glpA, xylB, ackA, and tgt ). (cdc.gov)
  • The 3-hydroxy-3-methylglutaryl-CoA reductase ( HMGCR ) acts as a potential genetic modifier for Alzheimer's disease (AD). (oncotarget.com)
  • PMID 17460369 ] Angiotensin-converting enzyme gene 2350 G/A polymorphism is associated with left ventricular hypertrophy but not essential hypertension. (snpedia.com)
  • Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure. (snpedia.com)
  • Previous reports identified that HMGCR rs3846662 polymorphism is associated with biosynthesis of cholesterol in AD pathology. (oncotarget.com)
  • Alzheimer's disease (AD), as the most common type of dementia for the aged people, is a multifactorial disease with complex etiology over genetic and environmental factors [ 1 , 2 ]. (oncotarget.com)
  • My research is aimed at bridging the gap between genetic polymorphism and biological function. (jhu.edu)
  • We also determined the urinary 2-OHE/16α-OHE 1 ratio, one biological measure of CYP1B1 activity, among a group of females nested from our polymorphism study. (ersjournals.com)
  • The effect of dopamine D2, D5 receptor and transporter (SLC6A3) polymorphisms on the cue-elicited heroin craving in Chinese. (cdc.gov)
  • In the past decade, there has been an increase in the number of lung cancer cases in young people, which suggests an important role for genetic background in the etiology of this disease. (scielo.br)
  • Background: A number of studies have shown that genetic factor plays an important role in etiology of panic disorder (PD). (researchsquare.com)
  • I read with great interest the study by Delanghe and his colleagues entitled "COVID-19 infections are also affected by human ACE1 D/I polymorphism" that was published in Clinical Chemistry and Laboratory Medicine [ 1 ]. (degruyter.com)
  • Coinheritance of two rare genodermatoses (Papillon-Lef vre syndrome and oculocutaneous albinism type 1) in two families: a genetic study. (lu.se)
  • A genetic study of cathepsin C gene in two families with Papillon-Lef vre syndrome. (lu.se)
  • A meta-analysis showed genetic factors explain approximately 43% of the variance in the PD[4], indicating an important role in the pathological PD. (researchsquare.com)
  • However, most studies that report introgression fail to disprove the null hypothesis that genetic incongruence may result from stochastic sorting of ancestral allelic polymorphisms. (unboundmedicine.com)
  • Genetic studies, including genotyping, may be warranted for counseling and prenatal diagnosis. (medscape.com)
  • It is important to note that previous studies have been conducted in different ethnic groups, few of them have examined the relationship between these gene polymorphisms and PD in Chinese population. (researchsquare.com)
  • Pharmacogenomic studies focusing on candidate gene polymorphisms implicated in antidepressant response, especially in the serotonergic pathway. (researchsquare.com)
  • For example, a few studies investigated that 5-HTTLPR, intron 2 (STin2), 5-HTR1A rs6295, 5-HTR2A rs6313 and COMT rs4680 polymorphisms associated with antidepressant response[17-26]. (researchsquare.com)
  • The historical approach to setting OELs has in- genetic information extensively, but to date such factors have not volved investigators observing workers as well transmitted between been used to protect workers by incorpora- as conducting laboratory and animal studies. (cdc.gov)
  • Our results differ from previous polymorphism studies in other regions. (who.int)