scholarly journals Single nucleotide polymorphisms inTNFare associated with susceptibility to aspirin-exacerbated respiratory disease but not to cytokine levels: a study in Mexican mestizo population

2017 ◽  
Vol 11 (12) ◽  
pp. 1047-1055 ◽  
Author(s):  
Gandhi F Pavón-Romero ◽  
Juan M Reséndiz-Hernández ◽  
Fernando Ramírez-Jiménez ◽  
Gloria Pérez-Rubio ◽  
Ángel Camarena ◽  
...  
Viruses ◽  
2020 ◽  
Vol 12 (11) ◽  
pp. 1224
Author(s):  
Marco Antonio Ponce-Gallegos ◽  
Aseneth Ruiz-Celis ◽  
Enrique Ambrocio-Ortiz ◽  
Gloria Pérez-Rubio ◽  
Alejandra Ramírez-Venegas ◽  
...  

(1) Background: The influenza A/H1N1 pdm09 virus rapidly spread throughout the world. Despite the inflammatory and virus-degradation pathways described in the pathogenesis of influenza A virus (IAV) infection, little is known about the role of the single nucleotide polymorphisms (SNPs) in the genes involved in the processing and antigenic presentation-related mechanisms. (2) Methods: In this case-control study, we evaluated 17 SNPs in five genes (TAP1, TAP2, TAPBP, PSMB8, and PSMB9). One hundred and twenty-eight patients with influenza A/H1N1 infection (INF-P) and 111 healthy contacts (HC) were included; all of them are Mexican mestizo. (3) Results: In allele and genotype comparison, the rs241433/C allele (TAP2), as well as AG haplotype (rs3763365 and rs4148882), are associated with reduced risk for influenza A/H1N1 infection (p < 0.05). On the other hand, the rs2071888G allele (TAPBP) and GG haplotype (rs3763365 and rs9276810) are associated with a higher risk for influenza A/H1N1 infection. In addition, after adjustment for covariates, the association to a reduced risk for influenza A/H1N1 infection remains with rs241433/C allele (p < 0.0001, OR = 0.24, 95% CI = 0.13–0.43), and the association with TAPBP is also maintained with the G allele (p = 0.0095, OR = 1.89, 95% CI = 1.17–3.06) and GG genotype models (p < 0.05, OR = 2.18, 95% CI = 1.27–3.74). (4) Conclusion: The rs241433/C allele and AC genotype (TAP2) and the AG haplotype are associated with a reduced risk for influenza A/H1N1 infection. In addition, the rs2071888/G allele and GG genotype (TAPBP) and the GG haplotype are associated with a higher risk for developing influenza A/H1N1 infection in a Mexican mestizo population.


Background The NLRP1gene is central to the NLR inflammasome. Variants to the NLRP1 gene are associated with vitiligo and other autoimmune diseases. We examined the effects of two single nucleotide polymorphisms (SNP) son cytokine levels and NLRP1 gene expression in 50 human volunteers. Methods NLRP1 was genotyped at SNPs rs2670660 and rs12150220, and participants who were homozygous at one or more SNP were analyzed. Plasma IL-18 and IL-1β levels were quantified using ELISA. NLRP1 gene expression was measured using real-time PCR. Results Participants with the risk genotype had significantly higher levels of plasma IL-18 than participants with protective genotype (0.439 ng/µL compared to 0.152 ng/µL, p = 0.024). Genotypes rs2670660 and rs12150220 were strongly linked in this population (p = 2.33 x 10-13). Conclusions Increased production of IL-18, suggests that at least one of the AA variants of rs2670660 or rs12150220 increases NLRP1 activity. rs2670660 and rs12150220 are strongly linked.


Diagnostics ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 273
Author(s):  
Enrique Ambrocio-Ortiz ◽  
Gustavo Galicia-Negrete ◽  
Gloria Pérez-Rubio ◽  
Areli J. Escobar-Morales ◽  
Edgar Abarca-Rojano ◽  
...  

Background: Asthma is a complex and chronic inflammatory airway disease. Asthma’s etiology is unknown; however, genetic and environmental factors could affect disease susceptibility. We designed a case-control study aimed to evaluate the role of single-nucleotide polymorphisms (SNP), and copy-number variants (CNV) in the IL4 and IL13 genes in asthma susceptibility and their participation in plasma cytokine levels depending on genotypes Methods: We include 486 subjects, divided into asthma patients (AP, n = 141) and clinically healthy subjects (CHS, n = 345). We genotyped three SNP, two in the IL4 and two in the IL13 gene; also, two CNVs in IL4. The IL-4, IL-13 and IgE plasma levels were quantified. Results: Biomass-burning smoke exposure was higher in the AP group compared to CHS (47.5% vs. 20.9%; p < 0.01, OR = 3.4). No statistical differences were found in the genetic association analysis. In both CNV, we only found the common allele. For the analysis of IL-4, IL-13, and IgE measures stratified by genotypes, no significant association or correlation was found. Conclusion: In the Mexican-mestizo population, SNPs neither CNVs in IL4 nor IL13 are associated with asthma susceptibility or involved serum cytokine levels. Biomass-burning smoke is a risk factor in asthma susceptibility.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

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