scholarly journals Role of Interferon-Gamma +874 A/T Single-Nucleotide Polymorphism and Tuberculosis Susceptibility of Pediatric Population in North Sumatera, Indonesia

2021 ◽  
Vol 9 (A) ◽  
pp. 1057-1060
Author(s):  
Rini Savitri Daulay ◽  
Rina Amalia C. Saragih ◽  
Ridwan Muchtar Daulay ◽  
Ratna Akbari Ganie ◽  
Gino Tann ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Interferon Gamma ◽  
Disease Susceptibility ◽  
Pediatric Population ◽  
Immune Defense ◽  
Enzyme Linked Immunosorbent Assay ◽  
P Value ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

BACKGROUND: Tuberculosis (TB) remains to be a leading cause of morbidity and mortality worldwide. The immune defense against Mycobacterium tuberculosis (M. tuberculosis) is complicated. Interferon gamma (IFN-g) is the main cytokine involved in the immune response of TB. To date, the role of +874 A/T single nucleotide polymorphism (SNP) and TB disease susceptibility continue to be controversial. OBJECTIVES: The aim of this study was to investigate the role of +874 A/T SNP and TB disease susceptibility of pediatric population in North Sumatera, Indonesia METHODS:  A case control study was conducted in Medan and Batubara, North Sumatera, Indonesia from January to December 2016. A total of 51 children with TB and 51 healthy controls were enrolled in this study. Subjects were 2 months to 14 years old age children diagnosed with TB and written informed consent from the parents or the caregivers to participate. Subjects were withdrawn from the study when immunodeficiency condition was found or suffered from other infection disease. DNA samples were obtained from all of the subjects. +874 A/T SNP was identified by performing the amplification refractory mutational system - polymerase chain reaction (ARMS-PCR) method. IFN-g levels were measured by using human enzyme-linked immunosorbent assay/ELISA. Data analysis was performed using chi square and Mann Whitney test. p value <0.05 was considered significant. RESULTS: The result of this study reveals the presence of AA, AT and TT genotype in TB patients were 31 (60.8%), 20 (39.2%) and 0 (0%); respectively (p=0.023). Significant decreased production of IFN-g levels (p=0.042) were found in TB patients 9.41 (1.10 – 28.06) pg/ml. CONCLUSION: Our study demonstrated significant evidence of the role of +874 A/T SNP and TB disease susceptibility of pediatric population in North Sumatera, Indonesia predominantly AA genotype. Significant decreased production of IFN-g reported among pediatric TB.

scholarly journals Role of Interleukin-23 (IL-23) Receptor Signaling for IL-17 Responses in Human Lyme Disease

2011 ◽  
Vol 79 (11) ◽  
pp. 4681-4687 ◽  
Author(s):  
Marije Oosting ◽  
Hadewych ter Hofstede ◽  
Frank L. van de Veerdonk ◽  
Patrick Sturm ◽  
Bart-Jan Kullberg ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Lyme Disease ◽  
Gene Polymorphism ◽  
Taqman Assay ◽  
Enzyme Linked Immunosorbent Assay ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Content Type ◽  
Interleukin 23

ABSTRACTInterleukin-23 (IL-23) is known to play a crucial role in the development and maintenance of T helper 17 cells. It has been previously demonstrated that IL-17 is involved in experimental Lyme arthritis, caused byBorrelia burgdorferibacteria. However, the precise role of the IL-23 receptor (IL-23R) for theB. burgdorferi-induced IL-17 responses or human Lyme disease has not yet been elucidated. IL-23R single nucleotide polymorphism (SNP) rs11209026 was genotyped using the TaqMan assay. Functional studies were performed using peripheral blood mononuclear cells, and cytokines were measured using enzyme-linked immunosorbent assay (ELISA). Dose-dependent production of IL-23 and IL-17 byB. burgdorfericould be observed. Interestingly, when IL-23 bioactivity was inhibited by a specific antibody against IL-23p19, IL-17 production was significantly downregulated. In contrast, production of gamma interferon (IFN-γ) was not affected after the blockade of IL-23 activity. Moreover, individuals bearing a single nucleotide polymorphism in the IL-23R gene (Arg381Gln) produced significantly less IL-17 afterB. burgdorferistimulation compared with that of the individuals bearing the wild type. Despite lower IL-17 production, the IL-23R gene polymorphism did not influence the development of chronic Lyme disease in a cohort of patients with Lyme disease. This study demonstrates that IL-23R signaling is needed forB. burgdorferi-induced IL-17 productionin vitroand that an IL-23R gene SNP leads to impaired IL-17 production. However, the IL-23R gene polymorphism is not crucial for the pathogenesis of chronic Lyme.

scholarly journals Prevalence of ACSL (rs6552828) polymorphism among runners

2019 ◽  
Vol 24 ◽  
pp. 121-128
Author(s):  
Sigal Ben-Zaken ◽  
Yoav Meckel ◽  
Dan Nemet ◽  
Alon Eliakim
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Basis ◽  
Maximal Oxygen Consumption ◽  
Professional Athletes ◽  
Distance Runners ◽  
Nucleotide Polymorphism ◽  
Long Distance ◽  
Single Nucleotide ◽  
The Common

The ACSL A/G polymorphism is associated with endurance trainability. Previous studies have demonstrated that homozygotes of the minor AA allele had a reduced maximal oxygen consumption response to training compared to the common GG allele homozygotes, and that the ACSL A/G single nucleotide polymorphism explained 6.1% of the variance in the VO2max response to endurance training. The contribution of ACSL single nucleotide polymorphism to endurance trainability was shown in nonathletes, however, its potential role in professional athletes is not clear. Moreover, the genetic basis to anaerobic trainability is even less studied. Therefore, the aim of the present study was to examine the prevalence of ACSL single nucleotide polymorphism among professional Israeli long distance runners (n=59), middle distance runners (n=31), sprinters and jumpers (n=48) and non-athletic controls (n=60). The main finding of the present study was that the ACSL1 AA genotype, previously shown to be associated with reduced endurance trainability, was not higher among sprinters and jumpers (15%) compared to middle- (16%) and long-distance runners (15%). This suggests that in contrast to previous studies indicating that the ACSL1 single nucleotide polymorphism may influence endurance trainability among non-athletic individuals, the role of this polymorphism among professional athletes is still not clear.

scholarly journals Gas Chromatography-Mass Spectrometry and Single Nucleotide Polymorphism-Genotype-By-Sequencing Analyses Reveal the Bean Chemical Profiles and Relatedness of Coffea canephora Genotypes in Nigeria

Plants ◽  
2019 ◽  
Vol 8 (10) ◽  
pp. 425
Author(s):  
Chinyere F. Anagbogu ◽  
Christopher O. Ilori ◽  
Ranjana Bhattacharjee ◽  
Olufemi O. Olaniyi ◽  
Diane M. Beckles
Keyword(s):  
Gas Chromatography ◽  
Single Nucleotide Polymorphism ◽  
Coffea Canephora ◽  
Gas Chromatography Mass Spectrometry ◽  
P Value ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chemical Profiles ◽  
Genotype By Sequencing

The flavor and health benefits of coffee (Coffea spp.) are derived from the metabolites that accumulate in the mature bean. However, the chemical profiles of many C. canephora genotypes remain unknown, even as the production of these coffee types increases globally. Therefore, we used Gas Chromatography-Mass Spectrophotometry to determine the chemical composition of C. canephora genotypes in Nigeria—those conserved in germplasm repositories and those cultivated by farmers. GC-MS revealed 340 metabolites in the ripe beans, with 66 metabolites differing (p-value < 0.05) across the represented group. Univariate and multivariate approaches showed that the ‘Niaouli’ genotypes could be clearly distinguished from ‘Kouillou’ and ‘Java’ genotypes, while there was almost no distinction between ‘Kouillou’ and ‘Java,’. Varietal genotyping based on bean metabolite profiling was synchronous with that based on genome-wide Single Nucleotide Polymorphism analysis. Across genotypes, the sucrose-to-caffeine ratio was low, a characteristic indicative of low cup quality. The sucrose-to-caffeine ratio was also highly correlated, indicative of common mechanisms regulating the accumulation of these compounds. Nevertheless, this strong correlative link was broken within the ‘Niaouli’ group, as caffeine and sucrose content were highly variable among these genotypes. These ‘Niaouli’ genotypes could therefore serve as useful germplasm for starting a Nigerian C. canephora quality improvement breeding program.

scholarly journals Reduced Anti-Histone Antibodies and Increased Risk of Rheumatoid Arthritis Associated with a Single Nucleotide Polymorphism in PADI4 in North Americans

2019 ◽  
Vol 20 (12) ◽  
pp. 3093 ◽  
Author(s):  
Aisha M. Mergaert ◽  
Mandar Bawadekar ◽  
Thai Q. Nguyen ◽  
Laura Massarenti ◽  
Caitlyn L. Holmes ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Single Nucleotide Polymorphism ◽  
Enzyme Linked Immunosorbent Assay ◽  
Human Rheumatoid Arthritis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Rheumatoid Arthritis Diagnosis ◽  
North Americans ◽  
Increased Risk ◽  
Citrullinated Proteins

Autoantibodies against citrullinated proteins are a hallmark of rheumatoid arthritis, a destructive inflammatory arthritis. Peptidylarginine deiminase 4 (PAD4) has been hypothesized to contribute to rheumatoid arthritis by citrullinating histones to induce neutrophil extracellular traps (NETs), which display citrullinated proteins that are targeted by autoantibodies to drive inflammation and arthritis. Consistent with this theory, PAD4-deficient mice have reduced NETs, autoantibodies, and arthritis. However, PAD4′s role in human rheumatoid arthritis is less clear. Here, we determine if single nucleotide polymorphism rs2240335 in PADI4, whose G allele is associated with reduced PAD4 in neutrophils, correlates with NETs, anti-histone antibodies, and rheumatoid arthritis susceptibility in North Americans. Control and rheumatoid arthritis subjects, divided into anti-cyclic citrullinated peptide (CCP) antibody positive and negative groups, were genotyped at rs2240335. In homozygotes, in vitro NETosis was quantified in immunofluorescent images and circulating NET and anti-histone antibody levels by enzyme linked immunosorbent assay (ELISA). Results were compared by t-test and correlation of rheumatoid arthritis diagnosis with rs2240335 by Armitage trend test. NET levels did not significantly correlate with genotype. G allele homozygotes in the CCP− rheumatoid arthritis group had reduced anti-native and anti-citrullinated histone antibodies. However, the G allele conferred increased risk for rheumatoid arthritis diagnosis, suggesting a complex role for PAD4 in human rheumatoid arthritis.

A Common Single Nucleotide Polymorphism in the Chromosome 7q22.3 Region, Which Is Frequently Deleted in Myeloid Malignancies, Is Associated with Mean Platelet Volume and Platelet Function in Healthy Individuals

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 86-86
Author(s):  
Nicole Soranzo ◽  
Marloes R. Tijssen ◽  
Augusto Rendon ◽  
Christine Meisinger ◽  
Chris I. Jones ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Blood Cell ◽  
Mean Platelet Volume ◽  
P Value ◽  
Healthy Individuals ◽  
Nucleotide Polymorphism ◽  
Platelet Volume ◽  
Single Nucleotide ◽  
Myeloid Malignancies ◽  
Allele Effect

Abstract The variation in blood cell indices between individuals is to a large extent genetically controlled. In the normal population mean platelet volume (MPV) is inversely correlated with platelet count. We undertook a genome-wide association analysis of MPV on 2.5 million imputed genotypes in 1,475 individuals from the UK Blood Services Common Controls, followed by replication in an additional 7,098 samples from four independent collections. We identified a novel locus on chromosome 7q22.3, in a region frequently deleted in myeloid malignancies, where the lead single nucleotide polymorphism (SNP) had a highly significant association with MPV (average G allele effect size 0.15 log fl, 95% CI 0.0118–0.0174, P-value = 9.5×10−24) and an opposite effect on platelet counts (G allele effect −4.51 109/l, 95% CI −6.112 - −2.900, P-value = 1.46×10−7), but the SNP did not exert an effect on red cell indices. The lead SNP with a minor allele frequency of 0.46 is intergenic between the hypothetical gene FLJ36031 and the PIK3CG gene. There are 6 genes in the 1-Mb window centred around the lead SNP and all but HBP1 are transcribed in megakaryocytes (MKs) and to a variable degree in the other seven blood cell lineages. The formation and regulation of volume of platelets is critically dependent on the interaction of MK-expressed integrins with extracellular matrix proteins like fibrinogen and collagen. This prompted us to analyze, in our platelet function cohort of 500 healthy individuals, the association between the lead SNP and binding of both fibrinogen and annexin V to platelets following activation with the collagen mimetic CRP-XL, both associations were significant, with P-values of 0.05 and 0.003, respectively. In summary, we describe a common SNP associated with differences in volume, count and function of platelets from healthy individuals. Intriguingly, our results indicate that the same 7q22.3 region which is frequently deleted in myeloid malignancies harbours important regulatory elements of several platelet phenotypic traits.

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