ABSTRACT
PURPOSE: Both venous and arterial thrombotic events (VTE/AT) can be associated with immune checkpoint inhibitors (ICI). However, there is a paucity of information apropos patients in routine clinical practice. METHODS/PATIENTS: Retrospective, multicenter study promoted by the Thrombosis and Cancer Section of the Spanish Society of Medical Oncology (SEOM). Individuals with kidney or bladder cancer who initiated ICI between 01/01/2015 and 12/31/2020 were recruited. Minimum follow-up was 6 months (except in cases of demise). The primary objective was to calculate the incidence of ICI-associated VTE/AT and secondary objectives included to analyze their impact on survival and identify variables predictive of VTE/AT. RESULTS: 210 patients with kidney cancer were enrolled. The incidence of VTE/AT during follow-up (median 13 months) was 5.7%. Median overall survival (OS) was relatively lower among subjects with VTE/AT (16 months, 95% CI 0.01-34.2 vs. 27 months, 95% CI 22.6-31.4; p = 0.43). Multivariate analysis failed to reveal predictive variables for developing VTE/ AT. 197 patients with bladder were enrolled. There was a 9.1% incidence rate of VTE/AT during follow-up (median 8 months). Median OS was somewhat higher in patients with VTE/AT (28 months, 95% CI 18.4-37.6 vs 25 months, 95% CI 20.7-29.3; p = 0.821). Serum albumin levels < 3.5 g/dl were predictive of VTE/ AT (p < 0.05). CONCLUSIONS: There appears to be no association between developing VTE/AT and ICI use in patients with renal or bladder cancer. Serum albumin levels are a predictive factor in individuals with bladder cancer.
Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Thrombosis , Urinary Bladder Neoplasms , Venous Thromboembolism , Humans , Immune Checkpoint Inhibitors , Venous Thromboembolism/etiology , Retrospective Studies , Urinary Bladder , Medical Oncology , Kidney Neoplasms/drug therapy , Urinary Bladder Neoplasms/drug therapy , Serum Albumin , Risk FactorsSubject(s)
Humans , Female , Young Adult , Bone Neoplasms , Lung Neoplasms , Osteosarcoma , Pleura , LungSubject(s)
Bone Neoplasms , Lung Neoplasms , Osteosarcoma , Bone Neoplasms/complications , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/pathology , Female , Humans , Lung/pathology , Lung Neoplasms/complications , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/pathology , Osteosarcoma/complications , Osteosarcoma/diagnostic imaging , Osteosarcoma/pathology , Pleura/pathologySubject(s)
Aneurysm/pathology , Antineoplastic Agents/adverse effects , Bronchial Arteries/pathology , Phenylurea Compounds/adverse effects , Quinolines/adverse effects , Thyroid Cancer, Papillary/drug therapy , Thyroid Neoplasms/drug therapy , Aneurysm/chemically induced , Bronchial Arteries/drug effects , Humans , Male , Middle Aged , Prognosis , Thyroid Cancer, Papillary/pathology , Thyroid Neoplasms/pathologyABSTRACT
BACKGROUND: TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change. MATERIAL AND METHODS: A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta. RESULTS: The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change. CONCLUSIONS: The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population.
Subject(s)
Ethnicity/genetics , Polymorphism, Single Nucleotide , Zonula Occludens-1 Protein/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Alleles , Amino Acid Sequence , Amino Acid Substitution , Computer Simulation , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Hydatidiform Mole/genetics , Indians, North American/genetics , Male , Marriage , Mexico , Middle Aged , Models, Genetic , Models, Molecular , Molecular Sequence Data , Neoplastic Syndromes, Hereditary/genetics , Pancreatitis/genetics , Pregnancy , Protein Conformation , Protein Stability , Spain/ethnology , Young Adult , Zonula Occludens-1 Protein/chemistryABSTRACT
El locus g.37190613 en 7p14.2-14.1 del gen ELMO1 presenta un polimorfismo el cual consiste en un cambio G>A(rs1345365). Esta variante, entre otras, de ELMO1, ha sido asociada con nefropatía diabética en diferentes poblaciones. En México son limitados los estudios de asociación de diabetes mellitus con genes candidatos. Por ello, el objetivo del presente trabajo fue determinar la asociación del SNP rs1345365 del gen ELMO1 con el desarrollo de diabetes mellitus tipo 2 (DM2). Para ello se analizaron 148 pacientes con DM2, 156 individuos sin diabetes pero con factores de riesgo cardiovascular y 269 personas sanas sin DM2. El polimorfismo se identificó por PASA (PCR AMPLIFICATION ALLELE SPECIFIC) y PAGE teñida con nitrato de plata. La asociación se estableció por diferentes modelos de epidemiología genética; el modelo dominante mostró una asociación positiva (p=0,0006) como factor protector y el para-dominante mostró al estado heterocigoto como factor de riesgo. En conclusión el estudio reveló la asociación del SNP rs1345365 del gen ELMO1 con DM2 en una población mestiza Mexicana.
The g.37190613 locus on 7p14.2-14.1 in the ELMO1 gene has a G>A polymorphism (SNP rs1345365) that has been associated with diabetic nephropathy in different populations. The genetic-association studies in type 2 diabetes mellitus (DM2) on the Mexican population are limited. The aim of this study was to estimate whether the polymorphism G>A of ELMO1 gene is associated with the development of DM2. We included 148 DM2 individuals, 156 individuals with cardiovascular risk factors without diabetes and 269 healthy proband without DM2. The polymorphism was identified by PCR amplification specific allele (PASA), PAGE and silver staining. The association was established by genetic epidemiological models; the dominant model showed a positive association (p=0.0006) as a protective factor, and the para-dominant model to heterozygous, as risk factor. In conclusion, this study revealed the association of the SNP rs1345365 of the ELMO1 gene in a Mexican population.
Subject(s)
Adult , Humans , Male , Middle Aged , Adaptor Proteins, Signal Transducing/genetics , Diabetes Mellitus, Type 2/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Racial Groups , MexicoABSTRACT
The g.37190613 locus on 7p14.2-14.1 in the ELMO1 gene has a G>A polymorphism (SNP rs1345365) that has been associated with diabetic nephropathy in different populations. The genetic-association studies in type 2 diabetes mellitus (DM2) on the Mexican population are limited. The aim of this study was to estimate whether the polymorphism G>A of ELMO1 gene is associated with the development of DM2. We included 148 DM2 individuals, 156 individuals with cardiovascular risk factors without diabetes and 269 healthy proband without DM2. The polymorphism was identified by PCR amplification specific allele (PASA), PAGE and silver staining. The association was established by genetic epidemiological models; the dominant model showed a positive association (p=0.0006) as a protective factor, and the para-dominant model to heterozygous, as risk factor. In conclusion, this study revealed the association of the SNP rs1345365 of the ELMO1 gene in a Mexican population.
