Polymorphisms at the IL17A and IL17RA Genes are Associated with Prognosis of Papillary Thyroid Carcinoma

Bertol, Bruna Cristina; Araújo, Jéssica Nayara Góes de; Carvalho, Kleyton Thiago Costa de; Santos, Marcos Gonzaga dos; Martelli-Palomino, Gustavo; Feitosa, Nathalie Lobo de Figueiredo; Maciel, Léa Maria Zanini; Silbiger, Vivian Nogueira; Lucena‐Silva, Norma; Freitas, Janaina Cristiana de Oliveira Crispim; Donadi, Eduardo Antônio

doi:10.1016/j.arcmed.2021.07.004

Cited by 6 publications

(6 citation statements)

References 42 publications

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“…Conversely, the rs4819554 AG genotype was associated with smaller tumor size, earlier tumor stage at diagnosis, and a better response to initial therapy [100].…”

Section: Discussionmentioning

confidence: 89%

Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents

Maher,

AbdAllah,

Ageeli

et al. 2024

Children

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Several single nucleotide polymorphisms (SNPs) in multiple interleukin receptor genes could be associated with asthma risk and/or phenotype. Interleukin-17 (IL-17) has been implicated in tissue inflammation and autoimmune diseases. As no previous studies have uncovered the potential role of IL17 receptor A (RA) gene variants in asthma risk, we aimed to explore the association of four IL17RA SNPs (i.e., rs4819554A/G, rs879577C/T, rs41323645G/A, and rs4819555C/T) with asthma susceptibility/phenotype in our region. TaqMan allelic discrimination analysis was used to genotype 192 individuals. We found that the rs4819554 G/G genotype significantly reduced disease risk in the codominant (OR = 0.15, 95%CI = 0.05–0.45, p < 0.001), dominant (OR = 0.49, 95%CI = 0.26–0.93, p = 0.028), and recessive (OR = 0.18, 95%CI = 0.07–0.52, p < 0.001) models. Similarly, rs879577 showed reduced disease risk associated with the T allele across all genetic models. However, the A allele of rs41323645 was associated with increased disease risk in all models. The G/A and A/A genotypes have higher ORs of 2.47 (95%CI = 1.19–5.14) and 3.86 (95%CI = 1.62–9.18), respectively. Similar trends are observed in the dominant 2.89 (95%CI = 1.47–5.68, p = 0.002) and recessive 2.34 (95%CI = 1.10–4.98, p = 0.025) models. For the rs4819555 variant, although there was no significant association identified under any models, carriers of the rs4819554*A demonstrated an association with a positive family history of asthma (71.4% in carriers vs. 27% in non-carriers; p = 0.025) and the use of relievers for >2 weeks (52.2% of carriers vs. 28.8% of non-carriers; p = 0.047). Meanwhile, the rs4819555*C carriers displayed a significant divergence in the asthma phenotype, specifically atopic asthma (83.3% vs. 61.1%; p = 0.007), showed a higher prevalence of chest tightness (88.9% vs. 61.5%; p = 0.029), and were more likely to report comorbidities (57.7% vs. 16.7%, p = 0.003). The most frequent haplotype in the asthma group was ACAC, with a frequency of 22.87% vs. 1.36% in the controls (p < 0.001). In conclusion, the studied IL17RA variants could be essential in asthma susceptibility and phenotype in children and adolescents.

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“…Conversely, the rs4819554 AG genotype was associated with smaller tumor size, earlier tumor stage at diagnosis, and a better response to initial therapy [100].…”

Section: Discussionmentioning

confidence: 89%

Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents

Maher,

AbdAllah,

Ageeli

et al. 2024

Children

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“…However, Najafi et al (2014) found no association between the IL17A (rs2275913) SNP and RM risk [49]. Some other studies have linked the IL17A gene variant with an increased risk of a disease, such as systemic lupus erythematosus [50], gastric cancer [51], and papillary thyroid carcinoma prognosis [52]. The role of IL17A in the current RM population has not been studied so far; therefore, this study was conducted to evaluate the association between IL17A polymorphism and the disease.…”

Section: Study Participantsmentioning

confidence: 98%

Immunogenetic Role of IL17A Polymorphism in the Pathogenesis of Recurrent Miscarriage

Ali

Majid

Ali

et al. 2022

JCM

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Interleukin-17A (IL17A) is a proinflammatory cytokine and is assumed to play an important role in fetal rejection. In order to evaluate the potential role of IL17A polymorphism in the pathogenesis of recurrent miscarriage (RM), serum IL17A levels were estimated by ELISA. Single-nucleotide polymorphism was assessed by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) using gene-specific primers and the EcoNI restriction enzyme. Serum IL17A levels were nonsignificantly (p > 0.5) low in RM patients compared with the control group. IL17A gene amplification by PCR yielded the undigested product of 815 bp, and its digestion with EcoNI enzyme produced 815, 529, 286, and 270 bp fragments for the GG genotype; 529, 286, and 270 bp fragments for the GA genotype; and 529 and 286 bp fragments for the AA genotype. The genotype frequency between the RM and control groups exhibited a significant difference (p = 0.001), whereas no significant difference was observed between allele frequencies in the two groups (p = 0.0954). These data suggest that the IL17A gene polymorphism exhibits no significant effect on IL17A gene expression. However, it significantly decreases and increases RM risk in the homozygous and recessive models, suggesting its potential pregnancy-protecting and -harming roles in the AA and GA + GG genotypes, respectively.

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“…Within the gastric cancer time-to-event (TTE) analysis, there is a significant correlation found between the chromosome 10 loci rs7076167 and rs4838708 and survival risk [1]. The correlation analysis found a connection between the GA genotype at the locus rs2275913 on chromosome 6p12.2 and tumour response in the study on thyroid cancer and response endpoints trial [2]. TTE and response endpoints are common clinical phenotypes in oncology association analyses [3][4], playing a crucial role in genetic investigations of human disease [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

SPAJoint: A Multivariate Saddlepoint Approximation for Time-to- Event and Response Joint Analysis

Lai,

An,

Zhang

et al. 2024

Preprint

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Time-to-event and response endpoints are typical phenotypes in association studies that often exhibit stochastic correlation within the same individual. However, current analytic methods do not take the inherent correlation into account. Separate or fixed-connected endpoints assumptions can yield unreliable and prejudiced outcomes. Saddlepoint approximation is commonly used in association analysis to calibrate the type I error rate, but it is mostly applied in the univariate domain. Applying binary saddlepoint approximation to analyze joint models poses significant technical challenges. The bivariate saddlepoint approximation, considering natural correlations, necessitates intricate mathematical derivations. Therefore, we propose the a multivariate saddlepoint approximation method SPAJoint for time-to-event and response joint analysis, which constructs a joint model and applies binary saddlepoint approximation to calibrate test statistics, and the experimental results demonstrate that SPAJoint can control the type I error rate and more accurately identify genomic variants associated with multiple endpoints. The SPAJoint method incorporates random effects using the generalized linear mixed model to account for the correlation between time-to-event and tumour response. Bivariate saddlepoint approximation is utilized to calibrate test statistics for improved accuracy. By examining bladder cancer, kidney cancer, and lung cancer, we demonstrate that SPAJoint effectively manages type I error rates.

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Polymorphisms at the IL17A and IL17RA Genes are Associated with Prognosis of Papillary Thyroid Carcinoma

Cited by 6 publications

References 42 publications

Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents

Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents

Immunogenetic Role of IL17A Polymorphism in the Pathogenesis of Recurrent Miscarriage

SPAJoint: A Multivariate Saddlepoint Approximation for Time-to- Event and Response Joint Analysis

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