scholarly journals Γενετικοί πολυμορφισμοί προφλεγμονωδών και αντιφλεγμονωδών κυτταροκινών και ευπάθεια των νεογνών και βρεφών στην οξεία μέση ωτίτιδα

2014 ◽  
Author(s):  
Σταυρούλα Ηλία
Keyword(s):  
Family History ◽  
Single Nucleotide Polymorphisms ◽  
Otitis Media ◽  
Inflammatory Cytokine ◽  
Early Infancy ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
History Of ◽  
Anti Inflammatory ◽  
Anti Inflammatory Cytokine

Background: Acute otitis media (AOM) is the most common childhood infection, and despite the lower prevalence in neonates and early infancy, serious complications can occur. Pathogenesis is multi-factorial and little is known on the immature host responses to pathogens during otitis media. Extensive studies on the complex cytokine network and its genetically determined regulation have highlighted the significance as determinants of susceptibility and outcome of AOM.Objective: In the current study we investigated the genetic predisposition of the immune host’s response as related to susceptibility, severity and outcome of AOM in early infancy. For this purpose we have chosen 8 single nucleotide polymorphisms (SNPs) of pro-inflammatory and anti-inflammatory cytokines: IL6 (-174 G→C), IL10 (-1082 G→A, -819 C→T, -592 C→A), TNFα (-308 G→A), INFγ (+874 A→T), TGFβ1 (codon 10 C→T, codon 25 G→C).Methods: Neonates and infants with AOM hospitalized in pediatric units of University Hospital and Venizeleion General Hospital, both in Heraklion, Crete, during 2005-2006 were included and followed-up for three consecutive years. Demographics, history, clinical manifestations, and relapses were recorded. Cytokine single nucleotide polymorphisms were determined by the polymerase chain reaction method. We studied predisposing clinical factors affecting severity and chronicity of the disease, as well as cytokine genotypes as related to susceptibility, clinical course and outcome of AOM. Gender, patient’s atopy, exposure to smoke, siblings, breast feeding, and family history of AOM or atopy were considered as potential covariates in the epidemiological analysis. Results: 96 infants were analyzed, 58 (60.4%) were boys, mean age at enrolment was 2.4 months (range 0.6-7.92), and 52 (54%) were younger than 3 months. At the end of follow-up period, 81 (84.4%) infants presented with recurrent AOM episodes. Gastro-esophageal regurgitation, patient’s atopy and positive family history of AOM were related to increased recurrence rates (p=0.01, p=0.01, and p=0.02 respectively). IL10 (-1082) A and TGFβ1 (codon 10) T minor alleles were related to older age of AOM onset than the wild-type genotypes (p=0.007 and p=0.0039 respectively). As compared to wild genotypes, IL10 (-592 C→A, -819 C→T, -1082 G→A) θαη TGFβ1 (codon 10 C→T) genotypes carrying the alternative gene were related to more AOM episodes (p<0.0001, p<0.0001, p<0.0001, and p=0.002, respectively) and need for tympanostomy tubes (p=0.021, p=0.021, p=0.036, and p=0.049, respectively). The associations remained significant for AOM onset and recurrence after adjusting for confounding factors (multiple regression analysis).Conclusions: Our findings suggest that anti-inflammatory cytokine IL10 and TGFβ1 genotypes influence AOM onset, number of recurrent episodes and tympanostomy tube placement. This evidence expands our understanding toward pathogenesis and outlines the anti-inflammatory cytokine implication in the middle ear inflammation. Immunomodulation of host gene expression and modification of certain polymorphisms could possibly play a significant role in susceptibility and outcome of AOM. Identification of genetically susceptible infants will allow for individualized treatment and prevention strategies.

scholarly journals Polymorphism of MUC1 gene in Vietnamese gastric cancer patients: a case-control study

2019 ◽  
Author(s):  
Lan Thi Ngoc Nguyen ◽  
Dzung Thi Ngoc Dang ◽  
Van Thanh Ta ◽  
Huy Quang Dang ◽  
Chuc Van Tran ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
Single Nucleotide Polymorphisms ◽  
Cancer Patients ◽  
Nucleotide Polymorphisms ◽  
Mucin 1 ◽  
Single Nucleotide ◽  
History Of ◽  
Gastric Cancer Patients ◽  
Multifactor Regression

Abstract Background Gastric cancer is a malignant type of cancer associated with many factors such as environment, behavior, infection, and genetics, which include Single Nucleotide Polymorphism. A few studies revealed polymorphisms of the Mucin 1 gene have a role and significance as a susceptible factor contributing to gastric cancer. The aim of this research is to evaluate the association between Single Nucleotide Polymorphisms of the Mucin 1 gene and Vietnamese gastric cancer patients.Methods 302 gastric cancer patients and 304 controls were interviewed for social-economic characteristics, smoking and drinking status, personal and family history of gastric diseases. Genotyping was done using polymerase chain reaction-restriction fragment length polymorphism analysis. The association of Single Nucleotide Polymorphisms with gastric cancer was evaluated using multifactor regression models.Results AA genotype for rs4072037 was found to be highly associated with gastric cancer (OR: 2.07 (95% CI: 1.46-2.90). GG genotype for rs2070803 increased the risk of gastric cancer (OR:1.96 (95% CI: 1.37-2.78). These genotypes in combination with other factors such as old age, male gender, alcoholism and personal history of gastric disease also showed an increased risk of having gastric cancer.Conclusions rs4072037 and rs2070803 of Mucin 1 genes are two genotypic risk factors of gastric cancer. Those in combination with other factors such as gender, family history, smoking and drinking habits significantly increase the risk of gastric cancer.

scholarly journals Real-Time Polymerase Chain Reaction as a Method of Express Genetic Typing of Patients with Uterine Leiomyoma: An Example of Three Genetic Polymorphisms

Doctor Ru ◽  
2021 ◽  
Vol 20 (8) ◽  
pp. 7-11
Author(s):  
M.V. Kuznetsova ◽  
◽  
K.A. Svirepova ◽  
N.S. Sogoyan ◽  
A.I. Nikiforova ◽  
...  
Keyword(s):  
Family History ◽  
Single Nucleotide Polymorphisms ◽  
Real Time ◽  
Real Time Pcr ◽  
Uterine Leiomyoma ◽  
Direct Sequencing ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
History Of ◽  
Large Groups

Study Objective: To assess the efficacy of methods for DNA gene typing (direct sequencing and two variants of real-time PCR) for routine analysis of large groups; to compare the prevalence of genotypes of three single nucleotide polymorphisms in groups of women with uterine leiomyoma (with a separate analysis of a group with a family history of the disease) and in controls. Study Design: comparative study. Materials and Methods. Subjects were divided into groups using the case-control principle. DNA gene typing results for two groups of patients were analysed. Also, we analysed prevalence of genotypes in study group (patients with uterine leiomyoma) and in controls (patients without a history of uterine leiomyoma and a family history of the disease). The primary method used for genotyping was direct sequencing with genotype imaging. On the second stage, we tested two different PCR-based genotyping methods. Study Results. Patients with uterine leiomyoma were subject to genotyping using three single nucleotide polymorphisms (rs3020434, rs124577644, rs12637801) in ESR1, FBN2, and KCWMB2 introns. We have identified significant differences in prevalence of genotypes between the study group and controls. Polymorphism prevalence is statistically different between patients with leiomyomas, controls and women with a family history of the disease. It is demonstrated that the use of the two variants of real-time PCR testing instead of direct sequencing speeds up results; these methods are a less expensive and less labour-intensive tool for genotyping of single nucleotide polymorphisms in large groups. Conclusion. Real-time PCR testing can be used for express and efficient analysis of single nucleotide polymorphisms associated with uterine leiomyoma. Both methods (PCR genotyping with the use of oligonucleotide probes and analysis of high-resolution melting profiles) tested in this paper make it possible to get unambiguous results in 97–99% of samples. Keywords: uterine leiomyoma, single nucleotide polymorphisms, family proneness.

scholarly journals Different Within-Host Viral Evolution Dynamics in Severely Immunosuppressed Cases with Persistent SARS-CoV-2

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 808
Author(s):  
Laura Pérez-Lago ◽  
Teresa Aldámiz-Echevarría ◽  
Rita García-Martínez ◽  
Leire Pérez-Latorre ◽  
Marta Herranz ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Evolutionary Dynamics ◽  
Viral Evolution ◽  
Special Focus ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
New Variant ◽  
History Of ◽  
Evolution Dynamics ◽  
The Uk

A successful Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) variant, B.1.1.7, has recently been reported in the UK, causing global alarm. Most likely, the new variant emerged in a persistently infected patient, justifying a special focus on these cases. Our aim in this study was to explore certain clinical profiles involving severe immunosuppression that may help explain the prolonged persistence of viable viruses. We present three severely immunosuppressed cases (A, B, and C) with a history of lymphoma and prolonged SARS-CoV-2 shedding (2, 4, and 6 months), two of whom finally died. Whole-genome sequencing of 9 and 10 specimens from Cases A and B revealed extensive within-patient acquisition of diversity, 12 and 28 new single nucleotide polymorphisms, respectively, which suggests ongoing SARS-CoV-2 replication. This diversity was not observed for Case C after analysing 5 sequential nasopharyngeal specimens and one plasma specimen, and was only observed in one bronchoaspirate specimen, although viral viability was still considered based on constant low Ct values throughout the disease and recovery of the virus in cell cultures. The acquired viral diversity in Cases A and B followed different dynamics. For Case A, new single nucleotide polymorphisms were quickly fixed (13–15 days) after emerging as minority variants, while for Case B, higher diversity was observed at a slower emergence: fixation pace (1–2 months). Slower SARS-CoV-2 evolutionary pace was observed for Case A following the administration of hyperimmune plasma. This work adds knowledge on SARS-CoV-2 prolonged shedding in severely immunocompromised patients and demonstrates viral viability, noteworthy acquired intra-patient diversity, and different SARS-CoV-2 evolutionary dynamics in persistent cases.

Short Communication: Does Interleukin-28B Single Nucleotide Polymorphisms Influence the Natural History of Hepatitis B?

2012 ◽  
Vol 28 (10) ◽  
pp. 1262-1264 ◽  
Author(s):  
Luz Martín-Carbonero ◽  
Norma I. Rallón ◽  
José M. Benito ◽  
Eva Poveda ◽  
Juan González-Lahoz ◽  
...  
Keyword(s):  
Natural History ◽  
Hepatitis B ◽  
Single Nucleotide Polymorphisms ◽  
Short Communication ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Interleukin 28B ◽  
History Of

Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants

2021 ◽  
pp. 088307382110150
Author(s):  
José Tascón-Arcila ◽  
Sara Rojas-Jiménez ◽  
Diana Cornejo-Sánchez ◽  
Paola Gómez-Builes ◽  
Andrea Ucroz-Benavides ◽  
...  
Keyword(s):  
Family History ◽  
Clinical Features ◽  
Age At Onset ◽  
Febrile Seizures ◽  
Structured Interview ◽  
Nucleotide Polymorphisms ◽  
Rolandic Epilepsy ◽  
Single Nucleotide ◽  
Hyperactivity Disorder ◽  
History Of

Purpose: Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia. Methods: Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested. Results: The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested. Conclusions: Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

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