Association of single nucleotide polymorphisms at HSPB1 rs7459185 and TGFB1 rs11466353 with radiation esophagitis in lung cancer

Delgado, Blas David; Enguix-Riego, María Valle; Bobadilla, J. Cacicedo Fernández de; Rivera, Daniel; Gomez, Juan Povedano; Praena-Fernández, Juan Manuel; Campo, Eleonor Rivin del; Gordillo, María Dolores Gordillo; Fernández, María del Carmen; Guerra, José Luis López

doi:10.1016/j.radonc.2019.03.005

Cited by 10 publications

(7 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic variations in the 3′UTRs of genes can alter their expression by affecting miRNA binding and mRNA stability [ 42 , 44 , 45 ]. Although rs7459185 is outside of the 3′UTR sequence, a bioinformatics analysis showed a decrease in the HSPB1 mRNA expression levels in the presence of the rs7459185 CC genotype [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

HSPB1 Gene Variants and Schizophrenia: A Case-Control Study in a Polish Population

et al. 2022

View full text Add to dashboard Cite

Schizophrenia (SCZ) is a severe psychiatric disorder that has a significant genetic component. HSPB1 (HSP27) is known for its neuroprotective functions under stress conditions and appears to play an important role during the development of the central nervous system, which is in agreement with the neurodevelopmental hypothesis of SCZ. The aim of the present case-control study was to investigate whether HSPB1 variants contribute to the risk and clinical features (age of onset, symptoms, and suicidal behavior) of SCZ in a Polish population. To the best of our knowledge, this is the first study that investigated the association between the HSPB1 polymorphisms and SCZ. Three SNPs of HSPB1 (rs2868370, rs2868371, and rs7459185) were genotyped in a total of 1082 (403 patients and 679 controls) unrelated subjects using TaqMan assays. The results showed that the genotypes, alleles, and haplotypes of the three SNPs were not significantly different between the schizophrenic patients and healthy controls either in the overall analysis or in the gender-stratified analysis (all p > 0.05 ). However, we did find a significant effect of the rs2868371 genotype on the age of onset, negative symptoms, and disorganized symptoms in the five-factor model of PANSS (all p < 0.01 ). Post hoc comparisons showed that carriers of the rs2868371 G/G genotype had significantly higher negative and disorganized factor scores than those with the C/G and C/C genotypes, respectively. Further investigations with other larger independent samples are required to confirm our findings and to better explore the effect of the HSPB1 polymorphisms on the risk and symptomatology of SCZ.

show abstract

Section: Discussionmentioning

confidence: 99%

HSPB1 Gene Variants and Schizophrenia: A Case-Control Study in a Polish Population

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Chest-irradiation puts the breasts, heart, lungs, esophagus, and major blood vessels at risk for toxicity [16,17]. Candidate gene approaches have identified polymorphisms involved in DNA repair pathways related to skin toxicity, pneumonitis, and esophageal toxicity [18][19][20][21][22][23]. Few studies have used a GWAS approach to discover polymorphisms associated with radiation-induced toxicity.…”

Section: Chest Irradiationmentioning

confidence: 99%

Harnessing genome-wide association studies to minimize adverse radiation-induced side effects

Benitez

Knox

2020

Radiat Oncol J

View full text Add to dashboard Cite

“…HSP SNPs have been associated with survival in non-SCLC (NSCLC) 8 and toxicity in both SCLC and NSCLC. 9 The primary aim of this study was to investigate the relationship between clinical prognostic factors and genotypes of the TGFβ1 and HSPB1 genes and the outcome in patients with SCLC.…”

Section: Introductionmentioning

confidence: 99%

“…HSP SNPs have been associated with survival in non-SCLC (NSCLC) 8 and toxicity in both SCLC and NSCLC. 9…”

Section: Introductionmentioning

confidence: 99%

Prognostic value of the TGFβ1 rs4803455 single nucleotide polymorphism in small cell lung cancer

Miguel

Enguix-Riego

Cacicedo

et al. 2020

Tumori

Self Cite

View full text Add to dashboard Cite

Background: Small cell lung cancer (SCLC) is one of the greatest therapeutic challenges of oncology. Potential associations between single nucleotide polymorphisms in heat shock protein β1 (HSPB1) and transforming growth factor β1 (TGFβ1) and survival have been investigated. Methods: A prospective multicenter study of 94 patients with SCLC treated between 2013 and 2016 was conducted. Clinical, tumour-related, therapeutic, and genetic (9 SNPs of TGFβ1 gene and 5 of HSPB1 gene) variables were analyzed. Results: The cohort included 77 men and 17 women with a median age of 61 years. Eighty percent presented with limited stage at diagnosis and received thoracic radiation with a median dose of 45 Gy (twice-daily radiation in 42%). Forty-seven percent received concurrent platinum-based chemotherapy and 57% received prophylactic cranial irradiation (PCI). Overall survival (OS) was 34% at 2 years and 16% at 3 years. In multivariate analysis, the rs4803455:CA genotype of the TGFβ1 gene showed a statistically significant association with lower disease-free survival (DFS; hazard ratio [HR] 3.13; confidence interval [CI] 1.19–8.17; p = 0.020) and higher local recurrence (HR 3.80; CI 1.37–10.5; p = 0.048), and a marginal association with lower OS (HR 1.94; CI 0.98–3.83; p = 0.057). A combined analysis showed that patients receiving PCI and carrying the rs4803455:CA genotype had statistically significant lower OS ( p < 0.001) and DFS ( p < 0.001) than patients receiving PCI and carrying the rs4803455:AA genotype. Conclusions: Genetic analysis showed the CA genotype of TGFβ1 SNP rs4803455 was associated with worse prognosis in patients with SCLC and could be considered as a potential biomarker.

show abstract

Association of single nucleotide polymorphisms at HSPB1 rs7459185 and TGFB1 rs11466353 with radiation esophagitis in lung cancer

Cited by 10 publications

References 36 publications

HSPB1 Gene Variants and Schizophrenia: A Case-Control Study in a Polish Population

HSPB1 Gene Variants and Schizophrenia: A Case-Control Study in a Polish Population

Harnessing genome-wide association studies to minimize adverse radiation-induced side effects

Prognostic value of the TGFβ1 rs4803455 single nucleotide polymorphism in small cell lung cancer

Contact Info

Product

Resources

About