RESUMO
In-house assays for the diagnosis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) by quantitative reverse-transcription polymerase chain reaction (qRT-PCR), are feasible alternatives, particularly in developing countries. Cycle threshold (Ct ) values obtained by qRT-PCR were compared with clinical and laboratory data from saliva of inpatients with COVID-19 and asymptomatic health workers (AHW) were studied. Saliva specimens from 58 inpatients confirmed by qRT-PCR for SARS-CoV-2 using nasopharyngeal specimens, and 105 AHW were studied by qRT-PCR using three sets of primers for the N (N1, N2, and N3) gene of SARS-CoV-2, according to the CDC Diagnostic Panel protocol, showing a positivity of 88% for inpatients and 8% for AHW. Bivariate analysis revealed an association between Ct < 38.0 values for N2 and mechanical ventilation assistance among patients (p = .013). In addition, values of aspartate-transaminase, lactate dehydrogenase, and ferritin showed significant correlations with Ct values of N1 and N3 genes in inpatients. Therefore, our results show that Ct values correlate with some relevant clinical data for inpatients with COVID-19.
Assuntos
Teste de Ácido Nucleico para COVID-19/estatística & dados numéricos , COVID-19/diagnóstico , Pessoal de Saúde/estatística & dados numéricos , Pacientes Internados/estatística & dados numéricos , Adulto , Idoso , Infecções Assintomáticas , Biomarcadores/sangue , Proteínas do Nucleocapsídeo de Coronavírus/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fosfoproteínas/genética , SARS-CoV-2/genética , SARS-CoV-2/isolamento & purificação , Saliva/virologia , Índice de Gravidade de DoençaRESUMO
Preeclampsia (PE) is a pregnancy disorder that increases maternal and fetal morbidity and mortality worldwide. High plasma levels of homocysteine (Hcy) are a risk factor for several cardiovascular diseases. Cystathionine ß-synthase (CBS) plays an important role in Hcy homeostasis catalyzing the irreversible degradation of Hcy to cystathionine, protecting the endothelium from injury caused by hypoxia. Several mutations and polymorphisms may alter the expression of the CBS gene, resulting in variable levels of Hcy. The purpose of this study was to investigate the association of CBS gene polymorphisms with PE in Mexican women. A case-control study consisting of 129 pregnant women with PE (37 severe and 92 mild) and 173 women with uncomplicated pregnancies was performed. Polymorphisms, such as G797A, C785T, T833C, G919A, T959C, C1105T, and 844ins68 base pair, in the CBS gene were genotyped. The polymorphism G797A was monomorphic in cases with the presence of only G797A-G allele. Allele C785T-T and genotype C785T-C/T were associated with susceptibility in severe and mild PE. Alleles G797A-G and T959C-T were associated with susceptibility only in severe PE. Haplotype TGTWGTC was of susceptibility for severe PE and of protection for mild PE. Haplotypes CGTWGCC and CATWGTC seem to be protective for severe PE, but the latter is related to susceptibility in mild PE. The results suggest that C785T, G797A, and T959C mutations are contributing in different ways in severe and mild PE in our population and could be count as another related factor for this disease.
Assuntos
Alelos , Cistationina beta-Sintase/genética , Predisposição Genética para Doença , Genótipo , Polimorfismo Genético , Pré-Eclâmpsia/genética , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , México , Pré-Eclâmpsia/enzimologia , GravidezRESUMO
OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives). Four single-nucleotide polymorphisms (SNP1, P147Q, SNP5 and P278S) were tested for association with CL/P in triad and case-pseudo-control analyses. Polymorphism typing was performed by restriction fragment length polymorphism and dot-blot techniques. Allele and genotype frequencies were calculated between patients and pseudo-controls and compared using the Chi square test with Yates correction. Odds ratios and 95% confidence intervals were obtained using SPSS software (v19). Triad analysis was also performed using the program HAPLIN (v5.3). RESULTS: In the cases and pseudo-controls, an association was found between CL/P and the SNP1-G allele (P = 0.031) and the SNP1-G/G genotype (P = 0.032), a polymorphism located near MSX1. Triad analysis showed a tendency toward CL/P susceptibility for the genotype SNP1-G/G (P = 0.075) and an association between CL/P and the haplotype GCTC (P = 0.037). No associated haplotype was found in the cases and pseudo-controls. Two partial haplotypes, GT (SNP1-SNP5) (P = 0.032) and GC (SNP1-P278S) (P = 0.033), were associated with susceptibility in the heterozygous and homozygous types, respectively. In contrast, haplotype AT (SNP1-SNP5) was associated with protection (P = 0.012) in the homozygous type. CONCLUSIONS: The results of this study suggest an association between CL/P susceptibility and SNP1, located near the MSX1 gene, in the Mexican population.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Fator de Transcrição MSX1/genética , Alelos , Estudos de Casos e Controles , Frequência do Gene , Haplótipos , Humanos , México , Mutação , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Human obesity is due to a complex interaction among environmental, behavioral, developmental and genetic factors, including the interaction of leptin (LEP) and leptin receptor (LEPR). Several LEPR mutations and polymorphisms have been described in patients with early onset severe obesity and hyperphagic eating behavior; however, some contradictory findings have also been reported. In the present study we explored the association of six LEPR gene polymorphisms in patients with morbid obesity. FINDINGS: Twenty eight patients with morbid obesity and 56 non-obese Mexican Mestizo individuals were included. Typing of rs1137100, rs1137101, rs1805134, Ser492Thr, rs1805094 and rs1805096 LEPR polymorphisms was performed by PCR and allele specific hybridization. The LEPR Ser492Thr polymorphism was monomorphic with the presence of only the Ser492Thr-G allele. Allele C and genotype T/C for rs1805134 polymorphism were associated with susceptibility to morbid obesity (p = 0.02 and p = 0.03, respectively). No association was observed with any haplotype. Linkage disequilibrium (LD) showed that five polymorphisms (rs1137100, rs1137101, rs1805134, rs1805094 and rs1805096) were in absolute (D' = 1) but none in perfect (r2 = 1) LD. CONCLUSIONS: Our results suggest that rs1805134 polymorphism could be involved in the development of morbid obesity, whilst none of the alleles of the LEPR gene, rs1137100, rs1137101, rs1805094 and rs1805096 were associated as risk factors. However, more studies are necessary to confirm or reject this hypothesis.
Assuntos
Obesidade Mórbida/genética , Polimorfismo de Nucleotídeo Único , Receptores para Leptina/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , MéxicoRESUMO
Some Single Nucleotide Polymorphisms (SNPs) of interleukins and other modulatory molecules of the immune response play an important role in susceptibility to infectious diseases, particularly those involving intracellular parasites. In this study, we evaluated allele, genotype and haplotype associations of two SNPs of the TNF-α promoter and seven of the SLC11A1 gene in 79 patients with localized cutaneous leishmaniasis (CL) and 15 with visceral leishmaniasis (VL), compared with 127 and 89 locality paired controls, respectively, from two endemic areas of Chiapas State, Mexico. None of the TNF-α alleles and genotypes was associated either to CL or to VL. Alleles rs2276631-C (P = 0.02; OR [95%CI] = 2.11 [1.16-3.86]) and rs2279015-G (P = 0.005; OR [95%CI] = 2.42 [1.33-4.41]) of SLC11A1, were associated with susceptibility to VL, whereas genotypes rs2276631 C/C (P = 0.003; OR [95%CI] = 2.65 [1.41-5.00]) and rs2279015 G/G (P = 0.018; OR [95%CI] = 2.05 [1.15-3.64]) were significantly increased in CL and VL patients, respectively. Complete haplotypes involved in susceptibility were CGCCGDins with VL and CGCCADins with CL. CGCCA was the minimal susceptibility haplotype for CL and CCG for VL. Our data suggest that SLC11A1 gene polymorphisms might have a relevant role in the pathology of leishmaniasis, directing towards susceptibility outcome of this disease in residents of an endemic area.