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1.
Medicine (Baltimore) ; 99(10): e19451, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32150102

RESUMEN

Non-small cell lung cancer (NSCLC) is the major cause of cancer mortality worldwide. Though multidisciplinary therapies have been widely used for NSCLC, its overall prognosis remains very poor, presumably owing to lack of effective prognostic biomarkers. SMAD, a well-known transcription factor, plays an essential role in carcinogenesis. Aberrant expression of SMAD have been found in various cancers, and may be regarded as prognostic indicator for some malignancies. However, the expression and prognostic role of SMAD family member, especially at the mRNA level, remain elusive in NSCLC. In the present study, we report the distinct expression and prognostic value of individual SMAD in patients with NSCLC by analyzing several online databases including ONCOMINE, Gene Expression Profiling Interactive Analysis, Human Protein Atlas database, Kaplan-Meier plotter, cBioPortal, and Database for Annotation, Visualization and Integrated Discovery. The mRNA levels of SMAD6/7/9 in NSCLC were significantly down-regulated in NSCLC, and aberrant SMAD2/3/4/5/6/7/9 mRNA levels were all correlated with the prognosis of NSCLC. Collectively, SMAD2/3/4/5/6/7/9 may server as prognostic biomarkers and potential targets for NSCLC, and thus facilitate the customized treatment strategies for NSCLC patients.


Asunto(s)
Proteínas Reguladoras de la Apoptosis/genética , Carcinoma de Pulmón de Células no Pequeñas/genética , Predisposición Genética a la Enfermedad , Neoplasias Pulmonares/genética , Proteínas Mitocondriales/genética , Grupo de Ascendencia Continental Asiática , Biomarcadores de Tumor , Carcinoma de Pulmón de Células no Pequeñas/mortalidad , China , Minería de Datos , Bases de Datos Factuales , Regulación Neoplásica de la Expresión Génica , Humanos , Neoplasias Pulmonares/mortalidad , Pronóstico , ARN Mensajero/genética , Análisis de Supervivencia
2.
Medicine (Baltimore) ; 99(11): e19491, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32176088

RESUMEN

PROM1 has played a pivotal role in the identification and isolation of tumor stem cells. This study aimed to assess the association between PROM1 promoter methylation and head and neck squamous cell carcinoma (HNSCC), and its diagnostic and prognostic value.Bioinformatic analysis was performed using data from the Cancer Genome Atlas-HNSC and Gene Expression Omnibus datasets.The results showed that PROM1 promoter was hypermethylated in HNSCCs compared with normal head and neck tissues (P = 4.58E-37). The area under the receiver-operating characteristic curve based on methylated PROM1 data was 0.799. In addition, PROM1 hypermethylation independently predicted poor overall survival (hazard ratio [HR]: 1.459, 95% confidence interval [CI]: 1.071-1.987, P = .016) and recurrence-free survival (HR: 1.729, 95% CI: 1.088-2.749, P = .021) in HNSCC patients. Moreover, PROM1 methylation was weakly negatively correlated with its mRNA expression (Pearson r = -0.148, P < .001).In summary, our study reveals that methylated PROM1 might serve as a valuable diagnostic biomarker and predictor of poor survival for HNSCC patients. PROM1 hypermethylation might partially contribute to its downregulation in HNSCC.


Asunto(s)
Antígeno AC133/genética , Predisposición Genética a la Enfermedad , Neoplasias de Cabeza y Cuello/genética , Recurrencia Local de Neoplasia/genética , Carcinoma de Células Escamosas de Cabeza y Cuello/genética , Grupo de Ascendencia Continental Asiática , Biomarcadores de Tumor/genética , China/epidemiología , Minería de Datos , Supervivencia sin Enfermedad , Femenino , Regulación Neoplásica de la Expresión Génica , Neoplasias de Cabeza y Cuello/mortalidad , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/mortalidad , Valor Predictivo de las Pruebas , Pronóstico , Modelos de Riesgos Proporcionales , Carcinoma de Células Escamosas de Cabeza y Cuello/mortalidad , Análisis de Supervivencia
4.
J Int Soc Sports Nutr ; 17(1): 13, 2020 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-32131846

RESUMEN

BACKGROUND: Low energy availability (LEA) is a medical condition observed in athletes, with a higher prevalence in aesthetic sports. For the first time, this study evaluated the relative prevalence of LEA in female elite athletes (ELA) and recreational athletes (REA) in aesthetic sports in China. METHODS: Female athletes from 6 sports (trampolining, rhythmic gymnastics, aerobics, dance sport, cheerleading and dance) were recruited, including ELA (n = 52; age = 20 ± 3) on Chinese national teams and REA (n = 114; Age = 20 ± 2) from Beijing Sport University. Participants completed 2 online questionnaires to assess LEA and eating disorder risk. These included the Low Energy Availability in Females Questionnaire (LEAF-Q), which provided information on injury history, gastrointestinal function and menstrual history, and the Eating Disorder Inventory-3 Referral Form (EDI-3 RF). For a sub-group of elite athletes (n = 14), body composition, bone mineral density, and blood serum were also quantified. RESULTS: A total of 41.6% of participants (n = 69) were at increased risk of LEA, and 57.2% of participants (n = 95) were classified as high in eating disorder risk. For ELA vs. REA, there was a significantly higher prevalence of LEA risk (55.8% vs. 35.1%; p = 0.012) and amenorrhea (53.8% vs. 13.3%; p < 0.001). Elite athletes at increased risk of LEA had significantly lower estradiol (p = 0.021) and whole-body BMD (p = 0.028). Pearson correlations indicated that the whole-body BMD (r = - 0.667, p = 0.009) correlated negatively with LEAF-Q score. CONCLUSIONS: Results of this study indicate that there is a risk of LEA in female Chinese athletes within aesthetic sports, and significantly higher prevalence of increased LEA risk observed in ELA than in REA. Chinese coaches and sports medicine staff working elite female athletes in aesthetic sports should develop strategies to reduce the prevalence of LEA.


Asunto(s)
/epidemiología , Fenómenos Fisiológicos en la Nutrición Deportiva , Adolescente , Amenorrea , Grupo de Ascendencia Continental Asiática , Atletas , Composición Corporal , Densidad Ósea , China , Estudios Transversales , Baile , Trastornos de Alimentación y de la Ingestión de Alimentos , Femenino , Gimnasia , Hormonas/sangre , Humanos , Prevalencia , Factores de Riesgo , Deportes , Encuestas y Cuestionarios , Adulto Joven
5.
Medicine (Baltimore) ; 99(9): e19234, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32118726

RESUMEN

The stromal interaction molecule 1 (STIM1) gene contributes essentially to Ca transport, thus it is functionally related to neurodegenerative disorders. The objective of this study was to investigate the correlation between single nucleotide polymorphisms (SNP) in the non-coding region of STIM1 gene and the risk for Parkinson disease (PD) in a Chinese Han population.In a cohort composed of 300 PD patients and 300 healthy individuals from a Chinese Han population, we analyzed genotypes for five novel SNPs, rs7934581, rs3794050, rs1561876, rs3750994 and rs3750996 in the non-coding region of STIM1 gene. The levels of STIM1 protein in plasma of these subjects were also assessed by enzyme-linked immunosorbent assay (ELISA).We found that the SNPs of STIM1 gene rs7934581, rs3794050, rs1561876, and rs3750996 were associated with increased PD risk, while rs3750994 SNP was not. An increased risk of PD was observed in subjects with the TAAG and TGAG haplotypes of rs7934581, rs3794050, rs1561876, rs3750996. Moreover, PD risk was significantly elevated only in subjects with age ≥60 years or females who carry the STIM1 rs3794050 minor allele. There was a significant difference in plasma STIM1 protein levels between subjects with different genotypes of STIM1 rs7934581, rs3794050, rs1561876, and rs3750996.STIM1 gene rs7934581, rs3794050, rs1561876, rs3750996 SNPs are associated with increased PD risk, and its mechanism may be related to abnormal STIM1 gene expression.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Predisposición Genética a la Enfermedad , Proteínas de Neoplasias/genética , Enfermedad de Parkinson/genética , Molécula de Interacción Estromal 1/genética , China , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
6.
BMC Med Genet ; 21(1): 30, 2020 02 12.
Artículo en Inglés | MEDLINE | ID: mdl-32050935

RESUMEN

BACKGROUND: PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also explored the role of kisspeptin. Associated factors of the FTO candidate gene among South Asians with PCOS are unknown. METHODS: This study aimed to determine the association between FTO (rs9939609) polymorphism with clinical (BMI, acanthosis nigricans, hirsutism) and biochemical (serum kisspeptin and testosterone levels) characteristics of PCOS in a cohort of Sri Lankan women. Genetic and clinical data including serum kisspeptin and testosterone concentrations of our previously reported cases (n = 55) and controls (n = 110) were re-analyzed, specifically for an association with rs9939609 variant of FTO gene. RESULTS: Logistic regression analysis (AA - OR = 5.7, 95% CI = 2.41-13.63, p < 0.05) and genetic inheritance analysis (AA - OR = 5.49, 95%CI = 2.34-12.88, p < 0.05) showed that FTO (rs9939609) polymorphism is significantly associated with PCOS and its metabolic manifestations. Serum testosterone was significantly higher in affected women with mutant genotypes (AA+AT) than with the normal allele (TT) (p < 0.05). Although serum kisspeptin was higher in subjects with PCOS and mutant alleles than controls, this difference was not significant (p > 0.05). CONCLUSION: FTO gene variant rs9939609 is associated with hyperandrogenemia and metabolic manifestations of PCOS among women of Sri Lankan descent with the well-characterized phenotype. Serum kisspeptin and the FTO genotypes lack a significant association when adjusted for confounders.


Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Síndrome del Ovario Poliquístico/genética , Adolescente , Adulto , Alelos , Grupo de Ascendencia Continental Asiática/genética , Índice de Masa Corporal , Femenino , Regulación de la Expresión Génica/genética , Genotipo , Humanos , Persona de Mediana Edad , Fenotipo , Síndrome del Ovario Poliquístico/patología , Polimorfismo de Nucleótido Simple/genética , Sri Lanka
7.
Zhonghua Nei Ke Za Zhi ; 59(2): 117-123, 2020 Feb 01.
Artículo en Chino | MEDLINE | ID: mdl-32074684

RESUMEN

Objective: To evaluate the efficacy and safety of Oryz-Aspergillus enzyme and pancreatin tablets (Combizym(®)) in the treatment of postprandial distress syndrome (PDS) in the elderly, compared with gastrointestinal motility drugs. Methods: A prospective randomized controlled trial was designed and registered in the China Clinical Trials Registry (ChiCTR-IPR-16008185). The elderly patients with PDS were randomly divided into three groups, including Mosapride group with Mosapride citrate tablets 5 mg 3 times per day for 2 weeks; Combizym(®) group with Combizym tablets 244 mg 3 times per day for 2 weeks; combined treatment group with both drugs and same doses for 2 weeks. The modified Nepean dyspepsia index (NDSI) score, discomfort intensity score and PDS score were calculated on patients before treatment, at the end of first and second week of treatment, as well as 4 weeks after treatment finished, respectively. Adverse effects were evaluated. Results: A total of 323 patients from 16 tertiary hospitals in China were enrolled in this study. Among them, 105 patients were in Mosapride group, 109 in Combizym(®) group and 109 in combined treatment group. There were 148 males (45.8%) and 175 females (54.2%) with median age 71.4±9.0 years (60-100 years). Baseline characteristics of three groups were comparable. After treatment, the NDSI scores in three groups all decreased significantly (P<0.001), while they were similar between groups (P>0.05). The discomfort intensity score and PDS score in three groups showed a significant reduction after treatment (P<0.001), especially in the combined treatment group. Compared with Mosapride group, the scores in Combizym(®) group decreased significantly after one or two weeks [discomfort intensity score: after one week, 4.0(2.5, 8.0) vs. 6.0(3.0, 10.0); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 6.0); all P<0.05. PDS score: after one week, 6.0(3.0, 9.0) vs. 7.0(3.5, 10.5); after two weeks, 3.0(0.0, 5.0) vs. 4.0(2.0, 7.0); all P<0.05]. The efficacy rate in all patients after first week of treatment was over 15.0%. The efficacy rates after two weeks were 55.2%, 68.8% and 73.4% in Mosapride group, Combizym(®) group and combined treatment group, respectively. After two week treatment, the efficacy rates in Combizym(®) group (P=0.041) and combined group (P=0.006) were higher than that of Mosapride group. The recurrence rate of Mosapride group was 9.5%, which was significantly higher than that of Combizym(®) group (1.8%, P<0.05) and combined treatment group (1.8%, P<0.05). There were no serious adverse effects in the three groups. Conclusions: The efficacy of Oryz-Aspergillus enzyme and pancreatin tablets is comparable with that of Mosapride in elderly PDS patients, with fewer adverse effects and low recurrence rate. Combination regimen indicates better efficacy than that of Oryz-Aspergillus enzyme and pancreatin tablets or Mosapride alone.


Asunto(s)
Benzamidas/uso terapéutico , Dispepsia/tratamiento farmacológico , Fármacos Gastrointestinales/uso terapéutico , Motilidad Gastrointestinal/efectos de los fármacos , Glicósido Hidrolasas/uso terapéutico , Morfolinas/uso terapéutico , Pancreatina/uso terapéutico , Péptido Hidrolasas/uso terapéutico , Anciano , Anciano de 80 o más Años , Grupo de Ascendencia Continental Asiática , Benzamidas/efectos adversos , China , Combinación de Medicamentos , Dispepsia/diagnóstico , Dispepsia/patología , Femenino , Fármacos Gastrointestinales/efectos adversos , Glicósido Hidrolasas/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Morfolinas/efectos adversos , Pancreatina/efectos adversos , Péptido Hidrolasas/efectos adversos , Periodo Posprandial , Estudios Prospectivos , Resultado del Tratamiento
8.
Medicine (Baltimore) ; 99(7): e19200, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32049858

RESUMEN

Elderly individuals with non-dipper hypertension are at high risk of cardiovascular disease because of increased stiffness of peripheral arteries. Since, vitamin D deficiency is prevalent in elderly Chinese. We examined whether reduced plasma levels of 25-hydroxyvitamin D [25(OH)D] may help promote this stiffness.Hypertensive patients at least 60 years old without history of peripheral arterial disease at our hospital were retrospectively divided into dipper and non-dipper groups according to the results of 24-hour ambulatory blood pressure monitoring. Plasma levels of 25(OH)D were measured by enzyme immunoassay. Peripheral arterial stiffness was measured based on the cardio-ankle vascular index (CAVI).Of the 155 patients enrolled, 95 (61.3%) were diagnosed with non-dipper hypertension and these patients had significantly lower plasma levels of 25(OH)D than the 60 patients with dipper hypertension (19.58 ±â€Š5.97 vs 24.36 ±â€Š6.95 nmol/L, P < .01) as well as significantly higher CAVI (8.46 ±â€Š1.65 vs 7.56 ±â€Š1.08 m/s, P < .01). Vitamin D deficiency was significantly more common among non-dipper patients (57.9% vs 31.7%, P < .01). Multivariate regression showed that age and 25(OH)D were independently related to CAVI, with each 1-ng/ml decrease in 25(OH)D associated with a CAVI increase of +0.04 m/s.Non-dipper hypertension is associated with vitamin D deficiency and reduced plasma levels of 25(OH)D. The latter may contribute to stiffening of peripheral arteries, increasing the risk of cardiovascular disease.


Asunto(s)
Hipertensión/sangre , Rigidez Vascular , Vitamina D/análogos & derivados , Anciano , Grupo de Ascendencia Continental Asiática , Femenino , Humanos , Hipertensión/fisiopatología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Vitamina D/sangre
9.
Medicine (Baltimore) ; 99(8): e19083, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32080081

RESUMEN

BACKGROUND: Breast cancer is the most prevalent cancer in females and disease recurrence remains a significant problem. To prevent recurrence, tamoxifen is prescribed for at least 5 years. However, among patients who receive tamoxifen, individual responses are highly variable. These responses are affected by the type, frequency, and severity of endocrine symptoms, as well as adherence rates. Polymorphisms in genes involved in the metabolism of tamoxifen (ie, CYP3A4, CYP2D6) may influence responses to tamoxifen. In this study, the inter-relationships among endocrine symptoms, drug adherence, and genetic polymorphisms in Chinese breast cancer patients receiving tamoxifen therapy will be examined. We hypothesize that patients with more severe endocrine symptoms will be less likely to adhere to tamoxifen treatment. In addition, we hypothesize that a relationship will exist between the severity of tamoxifen-induced symptoms and allelic variations in tamoxifen metabolism-related genes. Although many association studies have determined that select genotypes influence the efficacy of tamoxifen, very few studies have investigated for associations between tamoxifen-induced endocrine symptoms and these polymorphisms. OBJECTIVES: The aim of this study was to characterize genetic polymorphisms in tamoxifen metabolism-associated genes in Chinese women with breast cancer and to explore the inter-relationships between genetic polymorphisms, endocrine symptoms, and adherence to tamoxifen. METHOD: We will conduct a prospective cohort study that follows 200 Chinese women over 18 months and assess treatment-related symptoms and genetic variations. Endocrine symptoms and drug adherence will be determined through interview-administered standardized questionnaires. Polymorphisms in drug metabolism genes will be determined using real-time polymerase chain reaction based genotyping method. Data will be analyzed to determine associations between allelic variations, endocrine symptoms, and adherence. DISCUSSION: The proposed study will evaluate for polymorphisms in gene(s) that are associated with tamoxifen-related endocrine symptoms and adherence with tamoxifen. We will explore the relationships between genotypes, endocrine symptoms, and drug adherence in Chinese breast cancer patients. Findings from this study may assist clinicians to identify patients at higher risk for a worse symptom experience and lower adherence rates and enable them to initiate appropriate interventions. In the long term, the findings from this study may be used to develop and test tailored symptom management interventions for these patients.


Asunto(s)
Antineoplásicos Hormonales/administración & dosificación , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/genética , Enfermedades del Sistema Endocrino/inducido químicamente , Tamoxifeno/efectos adversos , Alelos , Antineoplásicos Hormonales/metabolismo , Antineoplásicos Hormonales/uso terapéutico , Grupo de Ascendencia Continental Asiática/genética , Neoplasias de la Mama/epidemiología , Citocromo P-450 CYP2D6/genética , Citocromo P-450 CYP3A/genética , Femenino , Genotipo , Humanos , Persona de Mediana Edad , Recurrencia Local de Neoplasia/prevención & control , Estadificación de Neoplasias , Cooperación del Paciente , Polimorfismo de Nucleótido Simple , Prevalencia , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Tamoxifeno/metabolismo , Tamoxifeno/uso terapéutico
10.
Medicine (Baltimore) ; 99(8): e19141, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32080090

RESUMEN

INTRODUCTION: Stroke-like episodes (SLEs) are typical cerebral manifestations of certain mitochondrial disorders (MIDs). They are characterised by a vasogenic edema in a non-vascular distribution. PATIENTS CONCERNS:: none DIAGNOSIS:: SLEs show up on cerebral MRI as stroke-like lesions (SLLs), characterised by vasogenic edema in a non-vascular distribution. SLLs expand in the acute stage and regress during the chronic stage. They show hyperperfusion in the acute stage and hypoperfusion in the chronic stage. INTERVENTIONS: SLLs respond favorably to antiseizure drugs, to No-precursors, steroids, the ketogenic diet, and antioxidants. OUTCOME: SLLs end up as normal tissue, white matter lesion, grey matter lesion, cyst, laminar cortical necrosis, or the toenail sign. CONCLUSIONS: SLLs are a frequent manifestation of MIDs. They undergo dynamic changes in the acute and chronic stage. They need to be differentiated from ischemic stroke as they are differentially treated.


Asunto(s)
Encefalopatías Metabólicas Innatas/tratamiento farmacológico , Encefalitis/tratamiento farmacológico , Síndrome MELAS/diagnóstico por imagen , Síndrome MELAS/genética , Enfermedades Mitocondriales/complicaciones , Accidente Cerebrovascular/tratamiento farmacológico , Acidosis Láctica/diagnóstico , Anticonvulsivantes/uso terapéutico , Antioxidantes/uso terapéutico , Grupo de Ascendencia Continental Asiática/etnología , Encefalopatías Metabólicas Innatas/complicaciones , Encefalopatías Metabólicas Innatas/diagnóstico , Edema Encefálico/diagnóstico por imagen , Niño , ADN Mitocondrial/genética , Diagnóstico Diferencial , Dieta Cetogénica/efectos adversos , Dieta Cetogénica/métodos , Encefalitis/diagnóstico , Humanos , Síndrome MELAS/tratamiento farmacológico , Síndrome MELAS/patología , Imagen por Resonancia Magnética , Masculino , Encefalomiopatías Mitocondriales/diagnóstico , Fosforilación Oxidativa/efectos de los fármacos , Accidente Cerebrovascular/clasificación , Accidente Cerebrovascular/patología
11.
Anticancer Res ; 40(2): 881-889, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32014932

RESUMEN

BACKGROUND/AIM: We aimed to evaluate disparities in presentation and treatment of gastric cancer (GC), including time between diagnosis and treatment, based on race, focusing on Japanese patients within the USA. PATIENTS AND METHODS: The National Cancer Database was queried for patients diagnosed with GC between 2004-2013. Clinical and treatment variables were summarized by race (White, non-Japanese Asian, Japanese). The association between race and overall survival (OS) was evaluated using the log-rank test. RESULTS: A total of 79,481 patients were included. Japanese patients received surgery the earliest after diagnosis in all stages. Regarding radiotherapy, white patients had the shortest waiting time followed by Asian and Japanese patients. Asian patients had better OS at both 3 and 5 years of follow-up. White patients were associated with the lowest OS. CONCLUSION: Japanese and Asian GC patients have better OS compared to White patients. Moreover, there were disparities in time to both GC diagnosis and treatment, with Japanese patients being sooner diagnosed and surgically treated, which may ultimately impact patient experience.


Asunto(s)
Grupo de Ascendencia Continental Asiática/estadística & datos numéricos , Neoplasias Gástricas/epidemiología , Anciano , Femenino , Disparidades en el Estado de Salud , Humanos , Masculino , Factores Raciales , Neoplasias Gástricas/etnología , Resultado del Tratamiento , Estados Unidos/epidemiología
12.
Medicine (Baltimore) ; 99(3): e18841, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011499

RESUMEN

BACKGROUND: It has been reported the rs10757274 SNP (present on locus 9p21 in the gene for CDKN2BAS1) might be associated with susceptibility to coronary artery disease (CAD). Owing to mixed and inconclusive results, we conducted a meta-analysis to investigate the association between rs10757274 polymorphism and the risk of CAD. OBJECTIVES: The present study aimed to investigate the relationship between rs10757274 polymorphism and the risk of CAD. METHODS: All studies of the rs10757274 SNP with CAD that were published between 2007 and 2018 were retrieved from the PubMed database. Meta-analysis was performed with Stata 14.0 software. The effect size of the rs10757274 SNP with CAD risk was assessed based on the odds ratios (ORs) with calculation of 95% confidence interval (CI). RESULTS: Eleven studies including 52,209 subjects (cases: 7990, controls: 44,219) were included in the final data combination. Pooled overall analyses showed that rs10757274 (allele model: P < .001; dominant model: P < .001; recessive model: P < .001; Heterozygote codominant: P = .002; Homozygote codominant: P < .001) polymorphisms were significantly associated with the likelihood of CAD. Significant heterogeneity between individual studies appears in all 5 models. Further subgroup analyses revealed that rs10757274 polymorphisms were all significantly correlated with the likelihood of CAD and no heterogeneity were observed in West Asians. CONCLUSIONS: Our findings indicated that rs10757274 polymorphisms may serve as genetic biomarkers of CAD, especially in West Asians.


Asunto(s)
Enfermedad de la Arteria Coronaria/genética , Polimorfismo de Nucleótido Simple , ARN Largo no Codificante/genética , Grupo de Ascendencia Continental Asiática/genética , Humanos
13.
Medicine (Baltimore) ; 99(3): e18906, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011520

RESUMEN

Lung cancer is the most common malignancy in China and has a low survival rate amongst Han Chinese. The high mortality is largely attributed to late-stage diagnosis, when treatment is largely ineffective. Identification of genetic variants could potentially assist with earlier diagnosis and thus more effective treatment. Chemokine (C-C motif) ligand 4 (CCL4) plays a critical role as a chemoattractant in tumor development, metastasis and angiogenesis. In this study, we explored three CCL4 single nucleotide polymorphisms (SNPs) (rs1634507, rs1719153, and rs10491121) in 538 patients with lung cancer and 370 healthy, cancer-free controls. Carriers of the GT + TT heterozygote of rs1634507 had a lower risk of lung cancer than wild-type (GG) carriers, while the presence of the AG + GG heterozygote at rs10491121 was associated with a higher risk of lung cancer compared with having the AA genotype. The G/A/G and T/A/A CCL4 haplotypes significantly reduced and increased the risks for lung cancer, respectively. Our study is the first to document correlations between CCL4 polymorphisms and lung cancer development and progression in people of Han Chinese ethnicity.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Quimiocina CCL4/genética , Neoplasias Pulmonares/genética , Polimorfismo de Nucleótido Simple , Adulto , Estudios de Casos y Controles , China , Progresión de la Enfermedad , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad
15.
Medicine (Baltimore) ; 99(5): e18937, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32000410

RESUMEN

This study is to investigate the relationship of P-selectin (Ps) gene rs1800807 and rs1800808 polymorphisms with plasma soluble P-selectin (sPs) in Han, Uygur, and Kazakh people with atrial fibrillation (AF) and thromboembolism (TE) in Xinjiang, China.A total of 778 Han patients (including 131 patients with AF and TE, 229 patients with AF and 418 healthy individuals), 660 Uygur patients (including 118 patients with AF and TE, 232 patients with AF and 310 healthy individuals), and 505 Kazakh patients (including 42 patients with AF and TE, 156 patients with AF and 307 healthy individuals) were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism and direct DNA sequence analysis were used to analyze the polymorphisms of rs1800807 and rs1800808 of Ps gene. ELISA was used to determine the plasma sPs level. The association between plasma sPs levels and Ps gene polymorphisms was further analyzed.The sPs concentrations of GG genotype at rs1800807 locus in the Han, Uygur and Kazakh ethnic groups in Xinjiang, China were significantly higher than those of the CC genotype and CG genotype (P < .05). In the rs1800808 locus, plasma sPs concentrations of the heterozygous mutant CT genotypes in Han and Uygur populations were significantly higher than those in the CC and TT genotypes, whereas the plasma sPs concentrations in Kazakh TT genotypes were significantly higher than those in the CC and CT genotypes (P < .05). Among different ethnic groups, there were significant differences in sPs levels of rs1800807 and rs1800808 genotypes (P < .05).Plasma sPs concentrations are associated with Ps genotypes and sPs concentration of the same genotype shows racial differences.


Asunto(s)
Fibrilación Atrial/sangre , Fibrilación Atrial/genética , Selectina-P/sangre , Selectina-P/genética , Tromboembolia/sangre , Tromboembolia/genética , Grupo de Ascendencia Continental Asiática/genética , Fibrilación Atrial/complicaciones , Fibrilación Atrial/etnología , Biomarcadores/sangre , China , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Tromboembolia/complicaciones , Tromboembolia/etnología
16.
Medicine (Baltimore) ; 99(3): e18740, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011454

RESUMEN

To investigate the interaction between the single nucleotide polymorphism of the 3' untranslated region (3'UTR) of the pentraxin 3 (PTX3) gene, as well as environmental factors and the preeclampsia risk in a Chinese Han population.Sanger sequencing was used to analyze rs5853783 and rs73158510 loci of the PTX3 gene 3'UTR from 235 patients with preeclampsia and 235 control subjects. The plasma PTX3 protein level was measured by enzyme-linked immunosorbent assay (ELISA).The risk of preeclampsia in the PTX3 gene rs5853783 locus D allele carriers was 0.72 times higher than that of the I allele carriers (95% CI: 0.60-0.84, P < .001). The risk of preeclampsia in the PTX3 gene rs73158510 locus A allele carriers was 1.36 times higher than in the G allele carriers (95% CI: 1.16-1.55, P < .001). The area under the ROC curve (AUC) for the diagnosis of preeclampsia by plasma PTX3 protein levels was 0.906 (P < .001). The PTX3 gene rs5853783 and rs73158510 single nucleotide polymorphisms (SNPs) were associated with plasma PTX3 protein levels. The AUC of plasma PTX3 protein level diagnosis of preeclampsia in PTX3 gene rs5853783 locus II genotype subjects was up to 0.9371, followed by the ID genotype (AUC = 0.8586); the DD genotype was the lowest (AUC = 0.8154). The AUC of plasma PTX3 protein level diagnosis of preeclampsia in rs73158510 locus GG genotype subjects was 0.9102, GA genotype was 0.8766, and AA genotype was 0.8750.The rs5853783 and rs73158510 SNPs in the 3'UTR region of the PTX3 gene are associated with the risk of preeclampsia in a Chinese Han population.


Asunto(s)
Regiones no Traducidas 3'/genética , Proteína C-Reactiva/genética , Polimorfismo de Nucleótido Simple , Preeclampsia/genética , Componente Amiloide P Sérico/genética , Adolescente , Adulto , Alelos , Grupo de Ascendencia Continental Asiática , China/etnología , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Preeclampsia/etnología , Embarazo , Factores de Riesgo
17.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(2): 141-145, 2020 Feb.
Artículo en Chino | MEDLINE | ID: mdl-32051081

RESUMEN

OBJECTIVE: To study the association of single nucleotide polymorphisms (SNPs) of interleukin-23 receptor (IL-23R) rs10889677, interleukin-17A (IL-17A) rs227591, and interleukin-17F (IL-17F) rs763780 with necrotizing enterocolitis (NEC) in Chinese Han preterm infants. METHODS: A total of 100 Chinese Han preterm infants with NEC who were admitted to the neonatal intensive care unit from January 2017 to January 2019 were prospectively enrolled. Of the 100 preterm infants, 63 had stage II NEC and 37 had stage III NEC. A total of 100 preterm infants, matched for age and sex, were selected as the control group. PCR and Sanger sequencing were used to determine the SNPs of rs10889677, rs2275913, and rs763780. An unconditional logistic regression analysis was used to investigate the association of SNPs with NEC susceptibility and severity. RESULTS: The genotype and allele frequencies of rs10889677 and rs2275913 had no influence on the development of NEC (P>0.05). The genotype of rs763780 had no influence on the development of NEC (P>0.05), but the risk of NEC in the infants carrying C allele was 1.652 times that in those carrying T allele (95%CI: 1.052-2.695, P<0.05). The risk of NEC in the infants carrying TC+CC genotype was 1.856 times that in those carrying TT genotype (95%CI: 1.045-3.201, P<0.05). The risk of stage III NEC in the infants carrying TC+CC genotype was 2.965 times that in those carrying TT genotype (95%CI: 1.052-6.330, P<0.05). The risk of stage III NEC in the infants carrying C allele was 2.363 times that in those carrying T allele (95%CI: 1.034-4.093, P<0.05). CONCLUSIONS: The SNPs of IL-23R rs10889677 and IL-17A rs2275913 are not associated with the susceptibility to NEC in Chinese Han preterm infants, while TC+CC genotype and C allele of IL-17F rs763780 are associated with the susceptibility to NEC and the severity of NEC.


Asunto(s)
Enterocolitis Necrotizante , Interleucina-17/genética , Polimorfismo de Nucleótido Simple , Receptores de Interleucina/genética , Grupo de Ascendencia Continental Asiática , Estudios de Casos y Controles , Enterocolitis Necrotizante/genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Recién Nacido , Recien Nacido Prematuro
18.
Yi Chuan ; 42(2): 161-171, 2020 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-32102773

RESUMEN

Congenital cataract (CC) is a rare disease with dysplasia of the lens, mainly characterized by partial or complete opacity of the lens. The molecular basis of the disease is complex, mutations in over 266 genes associated with congenital cataracts had been reported. In this study, a novel congenital cataract candidate gene TSR1 was identified by whole genome sequencing and Sanger sequencing in a Chinese congenital cataract family. The TSR1 c.202-1G>A substitution affected splicing of TSR1 mRNA was confirmed by a minigene assay. The expression of TSR1 in mouse lens, anterior lens capsule of age-related cataract patients and 24-week human fetal lens were determined by RT-PCR, Western blotting, and immunofluorescence assays. The expression of TSR1 in the embryonic and different developmental stages of the mouse lens was confirmed by analyzing the iSyTE database. The expression of TSR1 was down-regulated in the lens-specific CBP:p300 double knockout mouse, and a set of genes with the same expression pattern of Tsr1 in the CBP:p300 double knockout mouse lens were extracted for protein-protein interaction network analysis, and six proteins were screened for direct interaction with Tsr1. GO function analysis indicated that Tsr1 might play a role in the MAPK-Erk signaling pathway in addition to its involvement in ribosome assembly. This study provided valuable research clues to further clarify the function of Tsr1 in the lens.


Asunto(s)
Catarata/genética , Cristalino/patología , Proteínas Ribosómicas/genética , Animales , Grupo de Ascendencia Continental Asiática , Catarata/congénito , China , Humanos , Ratones , Ratones Noqueados , Mutación , Linaje , ARN Mensajero
19.
Anticancer Res ; 40(2): 695-702, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32014910

RESUMEN

BACKGROUND/AIM: Few studies have examined the genetic role of matrix metalloproteinases (MMPs) to early detection or prediction in gastric cancer development. In this study, the contribution of MMP7 promoter (A-181G and C-153T) polymorphic genotypes to gastric cancer risk in Taiwanese was investigated for the first time. MATERIALS AND METHODS: A total of 121 cases and 363 controls were enrolled and their MMP7 genotypes at A-181G and C-153T were examined by polymerase chain reaction-restriction fragment length polymorphism methodology using genomic DNA from serum. RESULTS: The GG genotype at MMP7 A-181G was found to represent a risk factor for gastric cancer, especially among smokers. No individual with variant genotype carrier at MMP7 C-153T was found among this Taiwanese population. CONCLUSION: The G allele of MMP7 A-181G may serve as an early predictor for gastric cancer risk in Taiwanese; other gastric cancer markers are still urgently needed.


Asunto(s)
Metaloproteinasa 7 de la Matriz/genética , Neoplasias Gástricas/genética , Grupo de Ascendencia Continental Asiática/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo Genético , Factores de Riesgo , Neoplasias Gástricas/enzimología , Neoplasias Gástricas/patología , Taiwán
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 123-126, 2020 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-32034735

RESUMEN

OBJECTIVE: To detect potential variants of COL1A1 gene in five Chinese pedigrees affected with osteogenesis imperfecta (OI) and provide prenatal diagnosis for a fetus at 11th gestational week. METHODS: The coding regions and exon/intron boundaries of 225 genes associated with bone diseases were subjected to targeted capture and next generation sequencing (NGS). Suspected mutations were verified with Sanger sequencing in the probands, unaffected relatives and 100 unrelated healthy controls. Prenatal diagnosis for a high-risk fetus was carried out by Sanger sequencing. RESULTS: The probands of the pedigrees 1-5 have respectively carried c.3226G>A (p.Gly1076Ser), c.579delT (p.Gly194Valfs*71), c.2911-2912insAG (p.Gly971Glufs*138), c.3037G>A (p.Gly1013Arg) and c.642+5G>A variants of the COL1A1 gene. For pedigree 1, the same variant was not found in the fetus. c.3037G>A (p.Gly1013Arg) and c.2911-2912insAG (p.Gly971Glufs*138) were not reported previously. CONCLUSION: Mutations of the COL1A1 gene probably underlie the OI in the five pedigrees. Combined NGS and Sanger sequencing can provide an effective and accurate method for the genetic and prenatal diagnosis of OI.


Asunto(s)
Colágeno Tipo I/genética , Osteogénesis Imperfecta , Grupo de Ascendencia Continental Asiática , Femenino , Humanos , Mutación , Osteogénesis Imperfecta/genética , Linaje , Embarazo
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