Association analysis of tapasin polymorphisms with aspirin-exacerbated respiratory disease in asthmatics

Cho, Sung Hwan; Park, Jong‐Sook; Park, Byung Lae; Bae, Da-Jeong; Uh, Soo‐Taek; Kim, Mi-Kyeong; Choi, Inseon S.; Shin, Hyoung Doo; Park, Choon-Sik

doi:10.1097/fpc.0b013e328361d4bb

Cited by 9 publications

(4 citation statements)

References 45 publications

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“…Moreover, in a Chinese population, the rs9277972 was associated with an increased risk for hepatitis C virus [43]. On the other hand, the rs2071888 (SNP-associated in our study) has only been linked with gastrointestinal stromal tumors [44] and aspirin-exacerbated respiratory disease [45].…”

Section: Discussioncontrasting

confidence: 50%

“…There are no previous studies where rs2071888 has been associated with influenza A/H1N1 or another viral infection. The rs2071888 is a missense variant in the TAPBP exon 4, which generates a Threonine > Arginine change, which could alter the polarity of the protein structure, thereby modulating interactions with other molecules such as the HLA class I, leading to an altered antigen presentation and consequently, deficient infected cells clearance by CD8+ T cells, higher viral replication, and disease development [45]. In this sense, we conducted a bioinformatics analysis where we found that the rs2071888/G allele decreases the affinity for a transcriptional factor, affecting the TAPBP expression, probably leading to a deficient antigen presentation.…”

Section: Discussionmentioning

confidence: 99%

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Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population

Ponce-Gallegos

Ruiz-Celis

Ambrocio-Ortiz

et al. 2020

Viruses

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(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.

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Section: Discussioncontrasting

confidence: 50%

Section: Discussionmentioning

confidence: 99%

Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population

Ponce-Gallegos

Ruiz-Celis

Ambrocio-Ortiz

et al. 2020

Viruses

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“…While a reduction in TAPBP expression has been associated to tumor progression in colorectal cancer and chronic hepatitis B [ 41 , 42 ], the rs2071888 SNP has been associated with wild type gastrointestinal tumors and gallbladder cancer [ 43 , 44 ]. Furthermore, asthmatic patients carrying the CG and GG genotypes may have a higher decline in forced expiratory volume in 1 s after aspirin provocation when compared to those patients carrying the GG genotype [ 45 ]. Finally, the SLC47A2 gene is involved in the excretion of toxic electrolytes in urine and bile [ 46 ], and its rs12943590 SNP has been largely found to be involved in the pharmacodynamics of metformin and pharmacogenetics of type II diabetes mellitus [ 47 , 48 ].…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population

Olloquequi

Castro‐Santos

Díaz‐Peña

2022

IJMS

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Latin-American populations have been largely underrepresented in genomic studies of drug response and disease susceptibility. In this paper, we present a genome-wide Chilean dataset from Talca based on the Illumina Global Screening Array. This let us to compare the frequency of gene variants involved in response to drugs among our population and others, taking data from the 1000 Genomes Project. We found four single-nucleotide polymorphisms with low prevalence in Chileans when compared with African, Amerindian, East and South Asian, and European populations: rs2819742 (RYR2), rs2631367 (SLC22A5), rs1063320 (HLA-G), and rs1042522 (TP53). Moreover, two markers showed significant differences between lower and higher proportion of Mapuche ancestry groups: rs1719247 (located in an intergenic region in chromosome 15; p-value = 6.17 × 10−5, Bonferroni corrected p-value = 0.02) and rs738409 (A nonsynonymous gene variant in the PNPLA3 gene; p-value = 9.02 × 10−5, Bonferroni corrected p-value = 0.04). All of these polymorphisms have been shown to be associated with diverse pathologies, such as asthma, cancer, or chronic hepatitis B, or to be involved in a different response to drugs, such as metformin, HMG-CoA reductase inhibitors, or simvastatin. The present work provides a pharmacogenetic landscape of an understudied Latin American rural population and supports the notion that pharmacogenetic studies in admixed populations should consider ancestry for a higher accuracy of the results. Our study stresses the relevance of the pharmacogenomic research to provide guidance for a better choice of the best treatment for each individual in a population with admixed ancestry.

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“…A SNP in PSORS1C1 was associated with allopurinol-induced severe adverse reactions 29,30 . SNPs in HSP70, TAPBP, and WDR46 were found to be associated with aspirinexacerbated respiratory disease [31][32][33] .…”

Section: Gwas For Covid-19 Vaccine Adverse Eventsmentioning

confidence: 99%

Identification of susceptibility loci for adverse events following COVID-19 vaccination in the Japanese population: A web-based genome-wide association study

Nogawa¹,

Kanamori

Tokuda

et al. 2021

Preprint

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The novel coronavirus disease 2019 (COVID-19) pandemic has spread rapidly worldwide. To prevent the spread of COVID-19, mRNA-based vaccines made by Pfizer/BioNTech (BNT162b1) and Moderna (mRNA-1273) have been widely used worldwide, including in Japan. Various adverse events after COVID-19 mRNA vaccinations have been reported, with differences observed among individuals. However, the analysis on the genetic background for susceptibility to side effects has been limited. In the present work, we performed genome-wide association studies (GWAS) for self-reported adverse events of COVID-19 mRNA vaccination in 4,545 Japanese individuals and identified 14 associated loci. Among these, 6p21 was associated with 37.5°C or higher fever, 38 °C or higher fever, and muscle pain. Our results may enable one to prepare for and manage side effects by knowing their susceptibility to the occurrence of adverse events. Furthermore, we obtained valuable data that can lead to the understanding of the mechanism of action of COVID-19 mRNA vaccines.

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Association analysis of tapasin polymorphisms with aspirin-exacerbated respiratory disease in asthmatics

Abstract: TAPBP polymorphisms may play a role in the development of AERD.

Cited by 9 publications

References 45 publications

Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population

Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population

Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population

Identification of susceptibility loci for adverse events following COVID-19 vaccination in the Japanese population: A web-based genome-wide association study

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