RESUMO
This study aimed to investigate the association between ADAM metallopeptidase domain 33 (ADAM33) gene polymorphisms and the risk of childhood asthma. The relevant studies about the relationship between ADAM33 gene polymorphisms and childhood asthma were searched from electronic databases and the deadline of retrieval was May 2016. The single nucleotide polymorphisms (SNPs) of ADAM33 (rs511898, rs2280092, rs3918396, rs528557, rs2853209, rs44707, rs2280091 and rs2280089) were analyzed based on several models including the allele, codominant, recessive and dominant models. The results showed that the ADAM33 rs2280091 polymorphism in all four genetic models was associated with an increased risk of childhood asthma. Positive associations were also found between the polymorphisms rs2280090, rs2787094, rs44707 and rs528557 and childhood asthma in some genetic models. This meta-analysis suggested that ADAM33 polymorphisms rs2280091, rs2280090, rs2787094, rs44707 and rs528557 were significantly associated with a high risk of childhood asthma.
Assuntos
Proteínas ADAM/genética , Asma/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Alelos , Criança , Humanos , Fatores de RiscoRESUMO
PURPOSE: As a desmoplastic reaction, tissue fibrosis played crucial roles in solid tumor progression, chemo-resistance, and consequently heralded poor clinical outcome. Previous studies implied the effects of marrow fibrosis on prognosis for acute lymphoblastic leukemia were disputable. In this study, we aimed to investigate the potential role of bone marrow fibrosis on clinical survival in acute myeloid leukemia (AML) patients. METHODS: Bone marrow fibrosis (evaluated as reticulin fiber density, RFD) in bone marrow sections was evaluated at diagnosis via computer technology. Receiver operating characteristic curve (ROC) was used to analyze the predictive value of RFD for relapse and survival status. Kaplan-Meier method was used to estimate survival rates per subgroup between patients with different RFD. Cox proportional hazard regression was used to model the overall survival. RESULTS: High RFD at diagnosis in bone marrow sections from primary AML might predict early relapse and shorter survival (P = 0.003 and 0.001, respectively). The optimal cutoff value of RFD at diagnosis was determined to be 7.2%. Furthermore, the Kaplan-Meier analysis indicated that patients with high marrow RFD had shorter relapse-free survival (RFS) and overall survival (OS) than patients with low RFD (P = 0.007 and 0.000, respectively). Multivariate analysis suggested that similar with cytogenetics, marrow RFD at diagnosis was an independent prognostic factor for RFS [HR 0.564, 95% confidence interval (CI) 0.338-0.940, P = 0.028] and OS (HR 0.457, 95% CI 0.225-0.929, P = 0.031) in primary AML patients. CONCLUSIONS: Our data suggest that marrow RFD before treatment should be seemed as prognostic factor in primary AML, it may provide valuable clues for developing new targeted therapy.
Assuntos
Leucemia Mieloide Aguda/mortalidade , Mielofibrose Primária/complicações , Adolescente , Adulto , Idoso , Progressão da Doença , Feminino , Seguimentos , Humanos , Leucemia Mieloide Aguda/etiologia , Leucemia Mieloide Aguda/patologia , Masculino , Pessoa de Meia-Idade , Mielofibrose Primária/mortalidade , Mielofibrose Primária/patologia , Prognóstico , Curva ROC , Estudos Retrospectivos , Taxa de Sobrevida , Adulto JovemRESUMO
Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits. We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05). Some of the candidate genes were associated with metabolic and anthropometric traits in T2DM in Han Chinese. Although none of these associations reached genome-wide significance (P < 5 x 10(-8)), genes and loci identified in this study are worthy of further replication and investigation.
Assuntos
Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Característica Quantitativa Herdável , Idoso , Metabolismo Energético/genética , Feminino , Humanos , Resistência à Insulina/genética , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Fatores de RiscoRESUMO
We cloned the LOC339524 gene in Sprague-Dawley (SD) rats and analyzed the structure and function of the protein encoded by it. Based on the known human LOC339524 gene sequences, the full-length coding sequence of the LOC339524 gene in SD rats was cloned and amplified by the polymerase chain reaction using the complementary DNA of SD rats as a template. Bioinformatics analysis showed that the length of the cloned LOC339524 gene (GenBank accession No. KM224520) was 831 bp and it encoded a deduced protein of 276 amino acids. Sequence analysis revealed that the coded protein was identical to that produced in humans and its functional domain was located in the 138-236 amino acid fragments, a proline-rich region. Our results suggest that the encoded protein may be a significant regulator of the inflammatory response and may provide sufficient information to justify an in-depth investigation of the role of the LOC339524 gene.
Assuntos
Ectima Contagioso , Loci Gênicos , Anotação de Sequência Molecular , Sequência de Aminoácidos , Animais , Sequência de Bases , Dados de Sequência Molecular , Ratos , Ratos Sprague-DawleyRESUMO
Numerous studies have evaluated the association between CYP1A1 gene polymorphisms and hepatocellular carcinoma (HCC) risk. However, the specific association is still controversial. The aim of our study was to clarify the effects of CYP1A1 gene polymorphisms (3801 Tï¼C and A2455G) on HCC risk by conducting a meta-analysis. We conducted searches of the literature published in PubMed and EMBASE databases up to April 2014. We estimated the pooled odds ratio with its 95% confidence interval to assess the association using a fixed or random-effects model. Publication bias was investigated by the Begg funnel plot. Meta-analysis was performed using the STATA package version 12.0. Meta-analysis results showed no significant association between the CYP1A1 3801 Tï¼C polymorphism and HCC risk. In a subgroup analysis by nationality, we found a significant association between 3801 Tï¼C polymorphism and HCC risk in Asians (TT vs TC: OR = 0.77, 95%CI = 0.60-0.99). As for A2455G, the meta-analysis indicated no significant association between the CYP1A1 A2455G polymorphism and HCC risk. In conclusion, the 3801 Tï¼C polymorphism in the CYP1A1 gene may be related to increased risk of HCC in Asians. Conclusive evidence on the effects of the variants in HCC should be addressed in further studies.
Assuntos
Carcinoma Hepatocelular/genética , Citocromo P-450 CYP1A1/genética , Estudos de Associação Genética , Neoplasias Hepáticas/genética , Povo Asiático/genética , Carcinoma Hepatocelular/patologia , Predisposição Genética para Doença , Genótipo , Humanos , Neoplasias Hepáticas/patologia , Fatores de RiscoRESUMO
Recent evidence suggests that common functional polymorphisms in the hypoxia inducible factor-1α (HIF-1α) gene may play an important role in the development and progression of digestive cancer, but individually published results are inconclusive. Our meta-analysis is aimed to derive a more precise estimation of the relationships between HIF-1α gene polymorphisms and digestive cancer risk. An extensive literature search for relevant studies was conducted on Pubmed, Embase, Web of Science, Cochrane Library, and CBM databases from their inception through May 1, 2013. This meta-analysis was performed using the STATA 12.0 software. The crude odds ratios (OR) with 95% confidence interval (CI) were calculated. Eight case-control studies were included with a total of 1276 digestive cancer patients and 3392 healthy controls. Our meta-analysis revealed that the A variant of HIF-1α G1790A polymorphism might be associated with increased risk of colorectal, esophageal, gastric, and liver cancers, especially among Asian populations. However, no statistically significant associations were found between HIF-1α C1772T polymorphism and susceptibility to digestive cancer. No publication bias was detected in this meta-analysis. The current meta-analysis suggests that the HIF-1α G1790A polymorphism may increase the risk of colorectal, esophageal, gastric, and liver cancers, especially among Asian populations.
Assuntos
Neoplasias Colorretais/genética , Neoplasias Esofágicas/genética , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Neoplasias Hepáticas/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Gástricas/genética , Povo Asiático , Estudos de Casos e Controles , Neoplasias Colorretais/etnologia , Neoplasias Colorretais/patologia , Neoplasias Esofágicas/etnologia , Neoplasias Esofágicas/patologia , Predisposição Genética para Doença , Humanos , Neoplasias Hepáticas/etnologia , Neoplasias Hepáticas/patologia , Razão de Chances , Fatores de Risco , Neoplasias Gástricas/etnologia , Neoplasias Gástricas/patologiaRESUMO
We analyzed the genetic diversity of 115 barley germplasms, including 112 landraces and three new barley cultivars grown in the Shanghai region, using a set of 11 SSR markers. Sixty-six alleles were observed at the 11 SSR loci, ranged from three to ten, with a mean of six alleles per locus. The polymorphism information content ranged from 0.568 to 0.853, with a mean of 0.732, indicating considerable genetic variation in barley in the Shanghai area. Clustering analysis indicated that these barley accessions could be divided into two categories (A and B). Ninety-seven six-rowed barley cultivars were classified in the A category; sixteen two-rowed and two six-rowed barley cultivars were classified in the B category. This demonstrated genetic differences between two-rowed and six-rowed barley varieties. In addition, we found that the three new barley cultivars are closely related.
Assuntos
Variação Genética , Hordeum/genética , China , Cromossomos de Plantas , DNA de Plantas , Genótipo , Hordeum/classificação , Repetições de Microssatélites , Filogenia , Polimorfismo GenéticoRESUMO
Our objective was to estimate the efficacy of the measurement of serum YKL-40 alone or with CA125 as biomarkers for the diagnosis of epithelial ovarian cancer (EOC) using the YKL-40 ELISA kit. An experimental group of 49 ovarian cancer patients included 42 patients with EOC (53 ± 15 years, range: 19-81 years) and 7 patients (48 ± 13 years, range: 29-36 years) with borderline epithelial ovarian tumor. A control group of 88 non-malignant cases included 42 patients (43 ± 10 years, range: 26-77 years) with benign gynecological disease and 46 healthy women (45 ± 14 years, range: 30-68 years) at a teaching hospital. Both YKL-40 (220.1 ± 94.1 vs 61.6 ± 48.4 and 50.1 ± 41.2 ng/mL) and CA125 (524.9 ± 972.5 vs 13.4 ± 7.6 and 28.5 ± 29.6 U/mL) levels were significantly higher (P < 0.05) in patients with ovarian cancer compared to the healthy and non-malignant groups. YKL-40 had 92.9 percent sensitivity and 94.4 percent specificity for the diagnosis of EOC. When YKL-40 and CA125 were tested in parallel, the sensitivity was increased to 98.2 percent, but the specificity was decreased to 81.3 percent. The correlations between serum YKL-40 and tumor stage, grade histology, performance status, patient age, and extension of debulking surgery were tested. With increasing stage and grade of EOC, preoperative serum YKL-40 levels were significantly increased (P = 0.029, P = 0.05, respectively). Serum YKL-40 alone or with serum CA125 levels are useful, although with some limitations, to diagnose ovarian cancer. Our study showed that YKL-40 may not be an independent prognostic factor for ovarian cancer. This prospective study may be a new trend in looking for biomarkers that optimize diagnosis of ovarian cancer.
Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem , /sangue , Glicoproteínas/sangue , Neoplasias Epiteliais e Glandulares/diagnóstico , Neoplasias Ovarianas/diagnóstico , Biomarcadores Tumorais/sangue , Estudos de Casos e Controles , Ensaio de Imunoadsorção Enzimática , Estadiamento de Neoplasias , Prognóstico , Curva ROC , Sensibilidade e EspecificidadeRESUMO
Our objective was to estimate the efficacy of the measurement of serum YKL-40 alone or with CA125 as biomarkers for the diagnosis of epithelial ovarian cancer (EOC) using the YKL-40 ELISA kit. An experimental group of 49 ovarian cancer patients included 42 patients with EOC (53 ± 15 years, range: 19-81 years) and 7 patients (48 ± 13 years, range: 29-36 years) with borderline epithelial ovarian tumor. A control group of 88 non-malignant cases included 42 patients (43 ± 10 years, range: 26-77 years) with benign gynecological disease and 46 healthy women (45 ± 14 years, range: 30-68 years) at a teaching hospital. Both YKL-40 (220.1 ± 94.1 vs 61.6 ± 48.4 and 50.1 ± 41.2 ng/mL) and CA125 (524.9 ± 972.5 vs 13.4 ± 7.6 and 28.5 ± 29.6 U/mL) levels were significantly higher (P < 0.05) in patients with ovarian cancer compared to the healthy and non-malignant groups. YKL-40 had 92.9% sensitivity and 94.4% specificity for the diagnosis of EOC. When YKL-40 and CA125 were tested in parallel, the sensitivity was increased to 98.2%, but the specificity was decreased to 81.3%. The correlations between serum YKL-40 and tumor stage, grade histology, performance status, patient age, and extension of debulking surgery were tested. With increasing stage and grade of EOC, preoperative serum YKL-40 levels were significantly increased (P = 0.029, P = 0.05, respectively). Serum YKL-40 alone or with serum CA125 levels are useful, although with some limitations, to diagnose ovarian cancer. Our study showed that YKL-40 may not be an independent prognostic factor for ovarian cancer. This prospective study may be a new trend in looking for biomarkers that optimize diagnosis of ovarian cancer.