allelic combination
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2022 ◽  
Vol 66 (9-10) ◽  
pp. 24-29
Author(s):  
E. V. Golubkina ◽  
V. M. Sorokin ◽  
B. N. Levitan ◽  
A. R. Umerova ◽  
N. V. Kamneva

Background. Helicobacter pylori-associated chronic gastritis (CG), being a very heterogeneous group, still does not have a divisin based on Helicobacter pylori (Hp) genotyping data, which could predict the clinical form of CG.The aim of the study is to search for the prevalence of the cagA gene or any allelic combination of the vacA gene, or stable combinations of cagA and any allelic combination of vacA genes in Hp isolates from patients with mild and severe CG, as well as patients with peptic ulcer disease (PUD).Methods. Hp isolates from gastrobiopsy specimens were genotyped for cagA and vacA allelic combinations (s1m1, s2m1, s1m2, s2m2). The difference in the occurrence of vacA allelic combinations was assessed by Mann–Whitney U test; the conjunction of cagA and vacA allelic combinations was assessed by the Spearman's rank correlation coefficient (rs).Results. The cagA gene was found in more than half of all cases, both in patients with ulcer and in patients with CG (mild and severe). The incidence of vacAs1m1 (the most virulent allelic combination) showed no significant differences in all forms of gastritis and in PUD; the correlation between cagA and vacAs1m1 was significant in all groups of patients, rs ranged from 0.57 to 0.72. In patients with mild CG, an abundance of non-virulent allelic combination vacAs2m2 was observed, which was significantly different from its occurrence both in patients with severe CG and in patients with ulcer; the joint occurrence of vacAs2m2 and cagA in patients with mild CG was chaotic (rs=-0.13; P=0.40).Conclusion. In mild CG, despite the absence of significant differences in cagA and vacAs1m1 (when compared with severe CG and ulcer disease), strains with a non-virulent allelic combination vacAs2m2 were significantly dominant; therefore, the detection of this particular allelic combination of vacA speaks in favor of a mild course of CG.


2019 ◽  
Author(s):  
Amel Mhaya ◽  
Rahma Trabelsi ◽  
Dominique Begu ◽  
Sabine Aillerie ◽  
Fatima M’zali ◽  
...  

ABSTRACTCTX-M ESBLs have been increasingly reported from human enterobacteria isolates in Tunisia. NDM-1 carbapenemase was recently reported in isolates from Tunisian Hospitals. During a 2-month period (December 2017 to January 2018), we have collected 23 ESBL-producing Enterobacteriaceae (ESBL-E) from urines of patients hospitalized in three health care facilities and from community, situated in two distinct Tunisian geographical regions. They were divided into 15 Escherichia coli and eight Klebsiella pneumoniae. The aim of this study was to characterize ESBL-E with regard to their β-lactamase content and their epidemiological relationship. The results indicated a high rate (47%) of E. coli producing both CTX-M group-1 and −9. For the first time, we demonstrated the presence of E. coli having concomitantly CTX-M-15 and CTX-M-27 which belong to two sequences types (ST), ie. A-ST617 (2 isolates) and B2-ST131 subclade C2 (2 isolates). All four E. coli isolates carried a multireplicon IncF with an identical allelic combination, F31:A4:B1. This study reports also the first description of K. pneumoniae belonging to the clone ST147 carrying the carbapenemase NDM-1 in the Tunisian community. In conclusion, our data confirms the need for monitoring the resistance to extended-spectrum cephalosporins and to carbapenems among enterobacteria in Tunisia.


Biomédica ◽  
2019 ◽  
Vol 39 (1) ◽  
pp. 88-101 ◽  
Author(s):  
Efren Avendaño-Tamayo ◽  
Alex Rúa ◽  
María Victoria Parra-Marín ◽  
Winston Rojas ◽  
Omer Campo ◽  
...  

Introduction: Host genetics is recognized as an influential factor for the development of dengue disease.Objective: This study evaluated the association of dengue with the polymorphisms rs8192284 for gene IL6R, rs3775290 for TLR3, and rs7248637 for DC-SIGN.Materials and methods: Of the 292 surveyed subjects, 191 were confirmed for dengue fever and the remaining 101 were included as controls. The genotypes were resolved using polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP). In an attempt to determine the risk (Odds Ratio) of suffering dengue fever, data were analyzed using chi-square for alleles and logistic regression for both genotypes and allelic combinations. Confidence intervals were set to 95% for all tests regardless of the adjustment by either self-identification or ancestry.Results: For Afro-Colombians, the allele rs8192284 C offered protection against dengue [OR=0.425,(0.204-0.887), p=0.020]. The alleles rs7248637 A and rs3775290 A posed, respectively, an increased risk of dengue for Afro-Colombians [OR=2.389, (1.170-4.879), p=0.015] and Mestizos [OR=2.329, (1.283-4.226), p=0.005]. The reproducibility for rs8192284 C/C [OR=2.45, (1.05-5.76), p=0.013] remained after adjustment by Amerindian ancestry [OR=2.52, (1.04-6.09), p=0.013]. The reproducibility for rs3775290 A/A [OR=2.48, (1.09-5.65), p=0.033] remained after adjustment by European [OR=2.34, (1.02-5.35), p=0.048], Amerindian [OR=2.49, (1.09-5.66), p=0.035], and African ancestry [OR=2.37, (1.04-5.41), p=0.046]. Finally, the association of dengue fever with the allelic combination CAG [OR=2.07, (1.06-4.05), p=0.033] remained after adjustment by Amerindian ancestry [OR=2.16, (1.09-4.28), p=0.028].Conclusions: Polymorphisms rs8192284 for IL6R, rs3775290 for TLR3, and rs7248637 for DC-SIGN were associated with the susceptibility to suffer dengue fever in the sampled Colombian population.


2018 ◽  
Vol 122 ◽  
pp. 144-150 ◽  
Author(s):  
Ahmad Farajzadeh Sheikh ◽  
Mohammad Jaafar Yadyad ◽  
Hamed Goodarzi ◽  
Seyed Jalal Hashemi ◽  
Sajad Aslani ◽  
...  

2018 ◽  
Vol 146 (16) ◽  
pp. 2096-2101 ◽  
Author(s):  
J. L. Gutiérrez-Ferman ◽  
L. Villarreal-Treviño ◽  
J. M. Ramírez-Aranda ◽  
A. Camacho-Ortiz ◽  
M. R. Ballesteros-Elizondo ◽  
...  

AbstractWe determined the molecular epidemiology ofBordetella pertussisisolates to evaluate its potential impact on pertussis reemergence in a population of Mexico. Symptomatic and asymptomatic cases were included. Pertussis infection was confirmed by culture and real-time polymerase chain reaction (PCR). SelectedB. pertussisisolates were further analysed; i.e. clonality was analysed by pulsed-field gel electrophoresis (PFGE) andptxP-ptxA, prn,fim2 andfim3 typing was performed by PCR and sequencing. Out of 11 864 analysed samples, 687 (5.8%) were positive for pertussis, with 244 (36%) confirmed by both culture and PCR whereas 115 (17%) were positive only by culture and 328 (48%) were positive only by PCR. One predominant clone (clone A,n= 62/113; 55%) and three major subtypes (A1, A2 and A3) were identified by PFGE. All 113 selected isolates had the allelic combinationptxP3-ptxA1.The predominant clone A and the three major subtypes (A1, A2 and A3) corresponded to the emerging genotypesptxP3-ptxA1-prn2-fim2-1-fim3-2 andptxP3-ptxA1-prn2-fim2-1-fim3-1. In conclusion, the presence of an endemic clone and three predominant subtypes belonging to the genotypesptxP3-ptxA1-prn2-fim2-1-fim3-2andptxP3-ptxA1-prn2-fim2-1-fim3-1were detected. This finding supports the global spread/expansion reported for these outbreaks associated genotypes.


2016 ◽  
Vol 34 (2) ◽  
pp. 263-273 ◽  
Author(s):  
Adolfo Allegra ◽  
Angelo Marino ◽  
Stefania Raimondo ◽  
Antonio Maiorana ◽  
Salvatore Gullo ◽  
...  

2016 ◽  
Vol 26 (4) ◽  
pp. 477
Author(s):  
Esther-Alhelí Hernández-Tobías ◽  
Luisa Torres-Sánchez ◽  
Gino Noris ◽  
Carla Santana ◽  
Maria Reyna Samano ◽  
...  

<p class="Pa7"><strong>Objective: </strong>We studied multi-loci variants to identify the contribution of six candidate genes (<em>ADIPOQ, CDH13, LYPLAL1, MC4R, PPARG </em>and <em>PGC1A</em>) in the development of obesity and overweight.</p><p class="Pa7"><strong>Design: </strong>We genotyped 404 chromosomes with eleven SNPs in Mexican female adoles­cents, who were subdivided into two groups (obesity-overweight and normal-weight) using the World Health Organization pa­rameters. Genomic (800 chromosomes) and ancestral (208 chromosomes) controls were included to reduce the population bias. Anthropometric measurements, biochemi­cal parameters, and caloric intake were obtained only in the groups of Mexican female adolescents.</p><p class="Pa7"><strong>Results: </strong>A positive genotype-phenotype association was found that involves the multi-allelic combination of three risk alleles (one in <em>PPARG </em>and two in <em>LYPLAL1</em>) with obesity and overweight (OR=3.1, P=.010). This combination also exhibited a signifi­cant association with waist circumference (P=.030) and triglycerides levels (P=.030). These associations were supported by a lo­gistic regression analysis adjusted for several confounding variables.</p><p><strong>Conclusions: </strong>Our data suggest the joint participation of <em>PPARG</em>-<em>LYPLAL1 </em>genes in metabolic disorders development. Hence, these genes could act as potential bio­markers in obesity and overweight. Our findings underscore the complexity of metabolic disorders and provide evi­dence about the importance of multi-loci analysis to study complex diseases.</p><p><em>Ethn Dis. </em>2016;26(4):477-484; doi:10.18865/ ed.26.4.477</p>


2012 ◽  
Vol 39 (12) ◽  
pp. 2294-2302 ◽  
Author(s):  
MARIA CARMEN CÉNIT ◽  
CARMEN P. SIMEÓN ◽  
MADELON C. VONK ◽  
JOSE L. CALLEJAS-RUBIO ◽  
GERARD ESPINOSA ◽  
...  

Objective.Systemic sclerosis (SSc) is a genetically complex autoimmune disease; the genetic component has not been fully defined. Interleukin 6 (IL-6) plays a crucial role in immunity and fibrosis, both key aspects of SSc. We investigated the influence of IL6 gene in the susceptibility and phenotype expression of SSc.Methods.We performed a large metaanalysis including a total of 2749 cases and 3189 controls from 6 white populations (Germany, The Netherlands, Norway, Spain, Sweden, and United Kingdom). Three IL6 single-nucleotide polymorphisms (SNP; rs2069827, rs1800795, and rs2069840) were selected by SNP tagging and genotyped using TaqMan® allele discrimination technology.Results.Individual SNP metaanalysis showed no evidence of association of the 3 IL6 genetic variants with the global disease. Phenotype analyses revealed a significant association between the minor allele of rs2069840 and the limited cutaneous SSc clinical form (Bonferroni p = 0.036, OR 1.14, 95% CI 1.04–1.25). A trend of association between the minor allele of the rs1800795 and the diffuse cutaneous SSc clinical form was also evident (Bonferroni p = 0.072, OR 0.86, 95% CI 0.77–0.96). In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04–1.23).Conclusion.Our results suggest that the IL6 gene may influence the development of SSc and its progression.


2012 ◽  
Vol 38 (No. 3-4) ◽  
pp. 109-116
Author(s):  
L. Dotlačil ◽  
E. Gregová ◽  
J. Hermuth ◽  
Z. Stehno ◽  
J. Kraic

Earliness, morphological and agronomic characters and grain quality were studied in 123 European landraces and old cultivars of winter wheat in three-year field experiments. Simultaneously, HMW Glu-alleles were identified in these cultivars by means of SDS-PAGE. Within this set of cultivars 224 Glu-lines (with occurrence over 5% in the cultivar) were identified carrying 3 different allelic combinations at 1A, 10 combinations at 1B and 3 combinations at 1D chromosomes, respectively. Relatively rare were alleles 2* at 1A and 3+12 at 1D as well as alleles 8, 6, 9, 7, 13+16 and 17+ 18 at 1B. Allele 20 at 1B was identified only in cultivars from DNK, CHE and EST. Allele 2* at 1A locus was found mainly in cultivars from Eastern, South-Eastern and Central Europe. Allelic combination 17+18 at 1B was also characteristic of cultivars from Central Europe. However, the gluten patterns themselves were not a sufficient tool for geographic characterisation of cultivars. The composition of Glu-alleles influenced the earliness of cultivars (alleles 2* at 1A, 17+ 18 and 6 at 1B and 3+12 at 1D). Spike length was positively affected by allele 1 at 1A and number of spikelets per spike by alleles 2+12 et 1D chromosome. Allele 2* was also associated with lower grain weight per spike. Crude protein content was decreased in cultivars where GS at 1A locus was absent (0). The value of gluten index was considerably higher (59.2) in cultivars bearing allelic combination 5+10 at 1D. A number of alleles affected the values of SDS micro-sedimentation test.


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