Read by QxMD icon Read

Gene polymorphysm

Zuo-Hua Chi, Ping Zhu
Severe congenital neutropenia (SCN) is a rare disease of bone marrow failure. Absolute value of peripheral blood neutrophil of SCN significantly reduced. SCN has a high risk of transformation to myelodysplastic syndromes (MDS) / acute myeloid leukemia (AML). At present, there are 14 abnormal genes related to SCN, ELANE is the most common pathogenic gene, the main therapy of SCN is the application of granulocyte colony stimulating factor (G-CSF). CSF3R gene mutation often occurs in the treatment process, and can lead to acute myeloid leukemia...
October 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
L Azzi, S Rania, F Spadari, R Vinci, M Manfredini, F Croveri, A Boggio, L Tettamanti, A Tagliabue, J Silvestre-Rangil, C Bellintani
The chronic stimulation of the immune system due to the presence of bacterial antigens within periodontal tissues has been associated with several autoimmune diseases, like diabetes mellitus, infective endocarditis or cardiovascular atherosclerosis. The current study aims at evaluating the correlation between Rheumatoid Arthritis (RA) and Periodontal Disease (PD) with special attention to genetic polymorphisms in cytokine expression. A total number of 34 patients affected by RA were recruited. Each of them underwent haematochemical analysis and data were collected for Rheumatoid Factor (RF), Anti-Citrullinated Protein’s Antibody (CCP) and HLA-BDR1...
April 2017: Journal of Biological Regulators and Homeostatic Agents
A V Sekridova, A M Varizhuk, O N Tatarinova, V V Severov, N A Barinov, I P Smirnov, V N Lazarev, D V Klinov, G E Pozmogova
In this paper, we report results of systematic studies of conformational polymorphism of G-rich DNA fragments from Alu repeats. Alu retrotransposones are primate-specific short interspersed elements. Using the Alu sequence from the prooncogen bcl2 intron and the consensus AluSx sequence as representative examples, we determined characteristic Alu sites that are capable of adopting G-quadruplex (GQ) conformations (i.e., potential quadruplex sites - PQSAlu), and demonstrated by bioinformatics methods that those sites are Alu-specific in the human genome...
July 2016: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
Danka Savic, Goran Knezevic, Svetozar Damjanovic, Jadranka Antic, Gordana Matic
BACKGROUND: The hypothalamo-pituitary-adrenocortical (HPA) axis self-regulation is achieved via cortisol binding to mineralocorticoid (MR) and glucocorticoid receptors (GR). It is often disturbed in mental disorders, particularly in those where traumatic stress has been implicated, such as posttraumatic stress disorder and depression. Although dexamethasone suppression test (DST) is often used as diagnostic aid, the findings still vary. In search of the factors influencing the DST outcome, we examined the glucocorticoid receptor (GR) gene BclI polymorphism...
October 2014: Journal of Affective Disorders
L A Ivanova, L V Mykaliuk, O H Hryhola
With a view to study the effect of genes GSTT1 and GSTM1 deletion on the non-specific bronchial hyperresponsiveness in children with neutrophilic bronchial asthma (BA) 46 school age children having neutrophilic BA (1st clinical group) and their 48 coevals with eosinophilic phenotype of the disease (2nd clinical group) were subjected to a complex examination at the pulmo-allergologic department of the regional child clinical hospital of Chernivtsi. The study proved that genotype T1+M1del was more frequently registered in patients with the neutrophilic phenotype of the disease, and genotype T1delM1del was equifrequent in patients with different types of the inflammation of the respiratory ways...
January 2014: Likars'ka Sprava
Silvano Presciuttini, Alessandro Gialluisi, Serena Barbuti, Michele Curcio, Fabrizio Scatena, Giancarlo Carli, Enrica L Santarcangelo
Higher brain dopamine content depending on lower activity of Catechol-O-Methyltransferase (COMT) in subjects with high hypnotizability scores (highs) has been considered responsible for their attentional characteristics. However, the results of the previous genetic studies on association between hypnotizability and the COMT single nucleotide polymorphism (SNP) rs4680 (Val(158)Met) were inconsistent. Here, we used a selective genotyping approach to re-evaluate the association between hypnotizability and COMT in the context of a two-SNP haplotype analysis, considering not only the Val(158)Met polymorphism, but also the closely located rs4818 SNP...
January 6, 2014: Frontiers in Human Neuroscience
N V Aksiutina, S Iu Nikulina, V A Shul'man, B V Nazarov, K V Dudkina, G V Bezruk, A I Balog, Iu V Kotlovskiĭ, O Ia Osedko, O A Kovaleva, S V Shteĭnerdt, A A Chernova
In the present work we for the first time on the clinic-genetic material revealed genetic predictors of development of acute disturbance of brain circulation (ADBC) in families of patients with atrial fibrillation (AF) namely polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene. Genotype CC was significantly more often found among patients with AF and ADBC compared with controls (58.1 and 35.2%, respectively, p=0.02) as well as in relatives of probands compared with the control group (59.3 and 35...
2013: Kardiologiia
Mirna Krajina-Andricević, Lada Zibar, Ljubica Glavas-Obrovac-, Mario Stefanić, Monika Avdicević, Jerko Barbić
INTRODUCTION: The renin-angiotensin system (RAS) has been shown to have important role in blood pressure regulation. Inconsistent results have been reported regarding the association of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism (NCBI ref. SNP ID: rs1799752) and hypertension as well as a contributing factor in the development of diabetic nephropathy. Aim of the study was to investigate the significance of insertion/deletion polymorphism of angiotensin-converting enzyme as contributing factor to blood pressure regulation in type 2 diabetic patients with diabetic nephropathy and those with preserved renal function...
October 2011: Acta Medica Croatica: C̆asopis Hravatske Akademije Medicinskih Znanosti
Dounya Schoormans, Teodora Radonic, Piet de Witte, Maarten Groenink, Donija Azim, Rene Lutter, Barbara J M Mulder, Mirjam A G Sprangers, Aeilko H Zwinderman
BACKGROUND: Quality of life (QoL) in patients with chronic disease is impaired and cannot be solely explained by disease severity. We explored whether genetic variability and activity contributes to QoL in patients with Marfan syndrome (MFS), a genetic connective tissue disorder. METHODOLOGY/PRINCIPAL FINDINGS: In 121 MFS patients, patient characteristics (i.e. demographics and MFS-related symptoms) were assessed. Patients completed the SF-36 to measure QoL. In addition, transcriptome wide gene expression and 484 Single Nucleotide Polymorphysms (SNPs) in cytokine genes were available...
2012: PloS One
Francesca Ingegnoli, Ennio Giulio Favalli, Pier Luigi Meroni
Tumor necrosis factor-α (TNF-α) has a key role in the pathogenesis of rheumatoid arthritis (RA) and the introduction of anti-TNFα biological therapies has dramatically altered the treatment of RA. Anti-TNFα agents display good clinical efficacy in patients resistant to traditional disease-modifying antirheumatic drugs and superior efficacy in the suppression of erosive joint damage, even if a significant non-response rate has been reported (30-40%). Because anti-TNFα therapy is associated with expensive treatment costs, leading to restrictions in the numbers of patients who may be treated, the identification of predictors of treatment outcome may improve the cost-effectiveness of anti-TNFα therapies...
June 2011: Autoimmunity Reviews
Igor Rudan
The completion of Human Genome Project and the "HapMap" project was followed by translational activities from companies within the private sector. This led to the introduction of genome-wide scans based on hundreds of thousands of single nucleotide polymorphysms (SNP). These scans were based on common genetic variants in human populations. This new and powerful technology was then applied to the existing DNA-based datasets with information on psychiatric disorders. As a result, an unprecedented amount of novel scientific insights related to the underlying biology and genetics of psychiatric disorders was obtained...
June 2010: Psychiatria Danubina
Kajo Bućan, Milan Ivanisević, Tatijana Zemunik, Vesna Boraska, Veselin Skrabić, Zoran Vatavuk, Davor Galetović, Ljubo Znaor
Retinopathy and nephropathy are common late type 1 diabetes mellitus (T1D) complications. In this study we investigated whether individual differences in 4 candidate genes significantly contribute to development and progression of late complications in T1D patients. We examined 121 patients for the presence of diabetic retinopathy and nephropathy. We genotyped variants in vitamin D receptor (VDR) and tumor necrosis factor (TNF) genes in 47 patients and in NeuroD1 and interleukin-1 receptor 1 (IL1R1) genes in 35 patients...
December 2009: Collegium Antropologicum
A A Apchelimov, T A Ezhova, S V Shestakov
Intraspecific polymorphism in the CHLI 2 gene, coding subunit I of Mg-chelatase complex that forms Mg-protoporphyrin IX was investigated in 19 ecotypes of Arabidopsis thaliana. Sequence divergence by 35 nucleotides was found; 12 of them result into amino acid change in third exon where functional domains of the protein are located. In one of two found divergent sequence haplogroups, Col haplogroup an excess of low-frequency polymorphism was revealed, showing the action of purifying selection and indicating a functional significance of CHLI 2 gene...
September 2009: Molekuliarnaia Biologiia
Qin Shen, Xusheng Wang, Ying Chen, Lingli Xu, Xiaodong Wang, Lu Lu
Numerous studies have shown that the microtubule-associated protein tau (Mapt) gene plays an important role in tauopathies. However, little is known about the genetic regulatory network. In this study, we combined array analysis and quantitative trait loci (QTL) mapping approaches (genetical genomics) to characterize the expression variation and the regulatory network of Mapt in mouse. Through examining the probe sets for overlapping single nucleotide polymorphysms (SNPs), two probe sets without overlapping SNPs were selected for QTL mapping...
August 2009: Parkinsonism & related Disorders
M Erdogan, M Karadeniz, A Berdeli, S Tamsel, Y Ertan, H Uluer, C Yilmaz, M Tuzun, T Kabalak, A G Ozgen
OBJECTIVE: Fas ligand (FasL) is an apoptotic agent and a member of tumor necrosis factor (TNF) family. FasL exists in cytotoxic T lymphocyte (CTL) and natural killer (NK) cells, and it is increased in tumor cell membrane. On the contrary, CTL and NK are bound to Fas on the surfaces of cell membrane; this triggers apoptosis in cytotoxic cells and leads to their death. This system plays an important role in eliminating viral infections and cancer cells. Malfunction of this system results in the development and spread of the malignancy...
May 2007: Journal of Endocrinological Investigation
Keiko Akimoto, Hatsue Katakami, Hyun-Jung Kim, Emiko Ogawa, Cecile M Sano, Yuko Wada, Hiroshi Sano
BACKGROUND AND AIMS: Epigenetics is defined as mechanisms that regulate gene expression without base sequence alteration. One molecular basis is considered to be DNA cytosine methylation, which reversibly modifies DNA or chromatin structures. Although its correlation with epigenetic inheritance over generations has been circumstantially shown, evidence at the gene level has been limited. The present study aims to find genes whose methylation status directly correlates with inheritance of phenotypic changes...
August 2007: Annals of Botany
P Maruna
Gene polymorphysm of the principal pro- and anti-inflammatory cytokines, namely that of tumor necrosis factor-alpha, interleukin (IL)-1beta, IL-6, IL-8 a IL-10, can influence the course of the physiological tissue reaction to operation trauma. Recent clinical studies try to confirm that the patient's phenotype significantly determines both the intensity of post-surgical tissue response and the incidence of post-surgical complications and therefore it represents an independent prognostic factor of the postsurgical development...
2007: Casopís Lékar̆ů C̆eských
P Kessler
There are significant differences among patients treated with warfarin in the dosage volumes necessary to reach an optimum therapeutic effect. Apart from the external influences (interactions with drugs and food), genetic predispositions play an important role. Polymorphysms of the P 450 2C9 cytochrome bear upon the speed ofbreaking down S-warfarin, polymorfysms VKORC1 bear on the volume and quality of epoxide reductase--an enzyme whose blockade is the crux of the mechanism how cumarin anticoagulants act. These two genes are responsible for at least 50% of the warfarin effect variability...
March 2006: Vnitr̆ní Lékar̆ství
Leen Abu-Safieh, Eranga N Vithana, Irmela Mantel, Graham E Holder, Lucia Pelosini, Alan C Bird, Shomi S Bhattacharya
PURPOSE: To report a large deletion that encompasses more than 90% of PRPF31 gene and two other neighboring genes in their entirety in an adRP pedigree that appears to show only the typical clinical features of retinitis pigmentosa. METHODS: To identify PRPF31 mutation in a dominant RP family (ADRP2) previously linked to the RP11 locus, the 14 exons of PRPF31 were screened for mutations by direct sequencing. To investigate the possibility of a large deletion, microsatellite markers near PRPF31 gene were analyzed by non-denaturing PAGE...
2006: Molecular Vision
T E Ivashchenko, N Iu Shved, N A Kramareva, E K Aĭlamazian, V S Baranov
Polymorphysms of the three genes encoding phase 1 (CYP1A1, mEPH1, and CYP2E2) and the three genes encoding phase 2 (NAT2, GSTM1, and GSTT1) xenobiotic detoxication enzymes were typed by use of PCR in 74 patients with extragenital endometriosis. Distribution of the CYP1A1, mEPHX1, CYP2E1, NAT2, and GSTM1 polymorphic alleles in the patient group corresponded to that in the control group. At the same time, functionally defective genotypes GSTM1 0/0, NAT2 S/S; GSTM1 0/0, GSTT1 0/0; and GSTT1 0/0, NAT2 S/S were three, four and eight times more frequent among the patients than in healthy individuals...
April 2003: Genetika
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"