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1.
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
2.
Medicine (Baltimore) ; 99(11): e19433, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32176070

RESUMEN

BACKGROUND: Number of studies have been performed to evaluate the relationship between the cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) gene variant rs5742909 polymorphism and cervical cancer risk, but the sample size was small and the results were conflicting. This meta-analysis was conducted to comprehensively evaluate the overall association. METHODS: PubMed, Web of Science, Embase, China Biology Medical Literature database, China National Knowledge Infrastructure, WanFang, and Weipu databases were searched before July 31, 2018. The strength of associations was assessed using odds ratios (ORs) and 95% confidence intervals (CIs). All of the statistical analyses were conducted using Review Manager 5.3 and Stata 14.0. RESULTS: Eleven studies involved 3899 cases and 4608 controls. Overall, significant association was observed between the CTLA-4 gene variant rs5742909 polymorphism and cervical cancer (T vs C: OR = 1.40, 95% CI = 1.12-1.76; TT vs CC: OR = 2.22, 95% CI = 1.13-4.37; TT vs CT+CC: OR = 1.96, 95% CI = 1.03-3.74; TT+CT vs CC: OR = 1.47, 95% CI = 1.14-1.90). In subgroup analysis by ethnic group, a statistically significant association was observed in Asians (T vs C: OR = 1.56, 95% CI = 1.22-1.99), but not in Caucasians (T vs C: OR = 1.19, 95% CI = 0.87-1.62). The sensitivity analysis confirmed the reliability and stability of the meta-analysis. CONCLUSION: our meta-analysis supports that the CTLA-4 gene variant rs5742909 polymorphism might contribute to individual susceptibility to cervical cancer in Asians.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Antígeno CTLA-4/genética , Predisposición Genética a la Enfermedad/etnología , Polimorfismo de Nucleótido Simple , Neoplasias del Cuello Uterino/etnología , Neoplasias del Cuello Uterino/genética , Femenino , Humanos
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Gene ; 735: 144365, 2020 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-31935498

RESUMEN

BACKGROUND: Single nucleotide polymorphisms (SNPs) have been inconsistently associated with hepatocellular carcinoma (HCC) risk. This meta-analysis aimed to synthesize relevant data on SNPs associated with HCC in the Asian population. METHODS: Databases were searched to identify association studies of SNPs and HCC in Asians published through January 2019. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were calculated based on 41 studies (13,167 patients with HCC and 15,886 noncancer controls). Network meta-analysis and Thakkinstian's algorithm were used to select the most appropriate genetic model, along with false positive report probability (FPRP) for noteworthy associations. RESULTS: Eleven SNPs meeting the inclusion criteria were tested for association with HCC, including CCND1 rs9344, PTGS2 rs689466, IL18 rs187238 and rs1946518, KIF1B rs17401966, MDM2 rs2279744, MIR146A rs2910164, MIR149 rs2292832, MIR196A2 rs11614913, MIR499A rs3746444, and TGFB1 rs1800469. A significant increase for HCC risk was observed for MDM2 rs2279744, and the dominant (pooled OR = 1.59, 95% CI: 1.26-2.00) and codominant (pooled OR = 1.37, 95% CI: 1.18-1.60) models were determined to be the most appropriate models. MIR499A rs3746444 also showed a significant association with HCC risk under the allele contrast model (pooled OR = 1.36, 95% CI: 1.05-1.77). Only the significance of MDM2 rs2279744 was noteworthy (FPRP < 0.2). CONCLUSIONS: MDM2 rs2279744 is associated with HCC susceptibility in Asians, and the dominant and codominant models are likely the most appropriate models to estimate HCC risk.


Asunto(s)
Carcinoma Hepatocelular/genética , Neoplasias Hepáticas/genética , Polimorfismo de Nucleótido Simple , Grupo de Ascendencia Continental Asiática/genética , Humanos , MicroARNs/genética , Proteínas Proto-Oncogénicas c-mdm2/genética
10.
Gene ; 734: 144395, 2020 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-31987907

RESUMEN

Studies imply the FOXP3 gene polymorphisms are engaged in the occurrence of some cancers, but the relationship between FOXP3 rs2280883 polymorphism and the hazard of colorectal cancer (CRC) is unclear. For this reason, a case-control investigation involving 365 CRC patients and 411 healthy individuals (matched by both age and gender) was taken to illustrate the underlying association. FOXP3 rs2280883 polymorphism genotyped via PCR-RELP. Data revealed this polymorphism was significantly linked to increased risk for CRC (CC versus TT, OR, 1.75; 95%CI, 1.06-2.88; P = 0.030). Subgroup analyses uncovered FOXP3 rs2280883 polymorphism intensified the risk of CRC among smokers. As for the connection between rs2280883 and clinical data of CRC, this polymorphism corelated to lymph node metastasis (CC versus TT: OR, 2.75; 95%CI, 1.35-5.62; P = 0.004) and the TNM stage. In conclusion, FOXP3 rs2280883 polymorphism is related to higher risk of CRC in a Chinese individuals. Larger-sized studies involving other races are needed.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Neoplasias Colorrectales/genética , Factores de Transcripción Forkhead/genética , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple
11.
Hereditas ; 157: 1, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31908633

RESUMEN

Background: Breast cancer is a one of the malignant carcinomas partially caused by genetic risk factors. Germline BRCA1 gene mutations are reportedly associated with breast cancers. Identification of BRCA1 mutations greatly improves the preventive strategies and management of breast cancer. The aim of our study was to investigate the frequency of the deleterious BRCA1: p.Ile1845fs variant in breast carcinomas, as well as the correlation between p.Ile1845fs variant with clinicopathological parameters and clinical outcomes. Results: A total of 23,481 clinically high-risk patients with breast cancer and 6489 healthy controls were recruited for p.Ile1845fs variant sequencing (either sanger or next generation sequencing). We identified 94 breast cancer patients (0.40%, 94/23481) as well as 11 healthy controls (0.17%, 11/6489) carried p.Ile1845fs variant. BRCA1: p.Ile1845fs variant showed a higher frequency in patients with TNBC molecular typing (20.21%, 19/94) and family history (37.23%, 35/94) compared with non-carriers (P = 3.62E-6 and 0.034, respectively). According to our data, we advanced the frequency of p.Ile1845fs variant and we confirmed that BRCA1: p.Ile1845fs variant was associated with increased risk of breast cancer (OR = 2.36, 95%CI = 1.26-4.89, P = 0.004). Conclusions: BRCA1: p.Ile1845fs variant was a frequently pathogenic mutation in breast cancer in Han Chinese women and our data may be helpful for diagnosis and therapy of breast cancer.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Proteína BRCA1/genética , Neoplasias de la Mama/genética , Mutación de Línea Germinal , Adulto , Anciano , Estudios de Casos y Controles , China , Femenino , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Persona de Mediana Edad
12.
BMC Neurol ; 20(1): 2, 2020 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-31900114

RESUMEN

BACKGROUND: Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. METHODS: Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing. RESULTS: A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration. CONCLUSIONS: The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Genes Recesivos/genética , Proteínas/genética , Paraplejía Espástica Hereditaria , Adolescente , Adulto , Niño , China , Femenino , Humanos , Masculino , Mutación/genética , Paraplejía Espástica Hereditaria/genética , Paraplejía Espástica Hereditaria/fisiopatología , Adulto Joven
13.
BMC Med Genet ; 21(1): 17, 2020 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-31996156

RESUMEN

BACKGROUND: Several reports were published on the relationship between the vascular endothelial growth factor (VEGF) -2578C > A gene polymorphism and lung cancer risk; however, the results are debatable. This meta-analysis was conducted to assess the relationship between VEGF -2578C > A gene polymorphism and lung cancer risk. METHODS: The associated literatures were identified on the 1st of September 2018 from CBM-disc (China Biological Medicine Database) and PubMed. RESULT: A total of 14 reports were recruited into our meta-analysis to assess the association between VEGF -2578C > A gene polymorphism and lung cancer susceptibility. There was a marked association between VEGF -2578C > A A allele / CC genotype and lung cancer risk in overall and Asian populations (overall populations: A allele: OR = 1.26, 95% CI: 1.08-1.46, P = 0.003; CC genotype: OR = 0.72, 95% CI: 0.54-0.95, P = 0.02; Asians: A allele: OR = 1.33, 95% CI: 1.15-1.55, P = 0.0002; CC genotype: OR = 0.68, 95% CI: 0.50-0.93, P = 0.01). However, VEGF -2578C > A gene polymorphism was not associated with the risk of lung cancer in Caucasians. CONCLUSION: VEGF -2578C > A A allele / CC genotype is associated with the lung cancer susceptibility in Asians and in overall populations.


Asunto(s)
Neoplasias Pulmonares/genética , Factor A de Crecimiento Endotelial Vascular/genética , Alelos , Grupo de Ascendencia Continental Asiática/genética , Bases de Datos Factuales , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Neoplasias Pulmonares/etnología , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Factor C de Crecimiento Endotelial Vascular/genética
14.
Mymensingh Med J ; 29(1): 108-114, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31915345

RESUMEN

The MDM2 gene is a negative regulator of p53, which has been linked to lung cancer. Here, we have evaluated the association of MDM2 SNP 285 G>C (rs117039649) and SNP 354 A>G (rs769412) with lung cancer risk in Bangladeshi population at the National Institute of Cancer Research and Hospital, Dhaka, Bangladesh from July 2015 to June 2017. We have genotyped 126 lung cancer patients and 133 healthy controls from Bangladesh by PCR-RFLP method for this study. Statistical analyses were performed to define the associations. Multivariate logistic regression revealed that MDM2 SNP 285 decreases the risk of lung cancer (GC+CC vs. GG: OR = 0.29, 95% CI = 0.15-0.56, p<0.005). A stratification analysis confirmed that this protective status is extended to younger people, male, overweight people, and smokers (GC+CC vs. GG: OR = 0.25-0.29, 95% CI = 0.11-0.69, p<0.01). However, we did not find any association of SNP 354 with lung cancer risk in Bangladeshi population (p>0.05). The present data indicated that MDM2 SNP 285 G>C (rs117039649) reduces the chance of lung cancer development in Bangladeshi population. However, MDM2 SNP 354 A>G (rs769412) has no such association in the same population.


Asunto(s)
Grupo de Ascendencia Continental Asiática , Predisposición Genética a la Enfermedad , Neoplasias Pulmonares/genética , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteína p53 Supresora de Tumor/genética , Grupo de Ascendencia Continental Asiática/etnología , Grupo de Ascendencia Continental Asiática/genética , Bangladesh , Estudios de Casos y Controles , Humanos , Masculino , Polimorfismo Genético , Polimorfismo de Nucleótido Simple , Factores de Riesgo
15.
Medicine (Baltimore) ; 99(4): e18662, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31977856

RESUMEN

BACKGROUND: As a key gene in the reverse transport pathway of cholesterol, ABCA1 (ATP-binding cassette transporter A1) plays an important role in the pathogenesis of coronary artery disease (CAD). In the ABCA1, rs2230806 is the most widely studied polymorphism and its role has been controversial. METHODS: We performed an updated meta-analysis by searching online electronic databases using the PubMed, Web of Science, Embase, Cochrane Library, EMBASE, Google Scholar, China National Knowledge Infrastructure, and Wan Fang databases before June 28, 2019. STATA12.0 software was used to perform a series of analyses on the data, including genetic effect model, heterogeneity, sensitivity, and publication bias analysis. RESULTS: Based on our inclusion and exclusion criteria, finally 43 articles including a total of 34,348 subjects (14,085 CAD cases and 20,263 healthy controls) were investigated. Results showed that carrying the K allele in rs223086 in the overall population significantly reduced the risk of CAD (OR = 0.745, 95% CI = 0.687-0.809, P < .001). After the ethnicity stratification analysis, the above phenomenon was found to be significant in Asian populations (OR = 0.686, 95% CI = 0.633-0.744, P < .001), marginally significant in Caucasians (OR = 0.887, 95% CI = 0.786-1.001, P = .051), and not significant in other populations (OR = 0.851, 95% CI = 0.558-1.297, P = .452). Further stratified according to the sample size in the Asian and Caucasian populations, in the Asian the K allele is more protective in small samples than large samples; however, in the Caucasian small samples carrying the K allele play a protective role while large samples are negative. In addition, according to the source of the control population and the geographical location in China, the results showed that rs2230806 was significantly associated with CAD in any group. Five genetic models (allelic, recessive, dominant, homozygote, and heterozygote) were analyzed in the above analysis. CONCLUSION: The K allele of rs2230806 was significantly associated with decreased risk of CAD, especially in Asian populations and small sample Caucasians.


Asunto(s)
Transportador 1 de Casete de Unión a ATP/genética , Enfermedad de la Arteria Coronaria/genética , Alelos , Grupo de Ascendencia Continental Asiática/genética , Enfermedad de la Arteria Coronaria/etnología , Grupo de Ascendencia Continental Europea/genética , Predisposición Genética a la Enfermedad , Humanos , Polimorfismo de Nucleótido Simple
16.
Gene ; 731: 144357, 2020 Mar 20.
Artículo en Inglés | MEDLINE | ID: mdl-31935503

RESUMEN

BACKGROUND: Genome-wide association studies (GWAS) have identified 5p15.33 as a susceptible locus for lung cancer. However, for non-small cell lung cancer (NSCLC), low-frequency risk variants in this region have not been systematically studied. We intended to explore the associations between low-frequency variants on 5p15.33 and NSCLC using a next-generation sequencing based approach in this study. METHODS: We have acquisited the variation spectrum of 400 NSCLC patients on 5p15.33 by sequencing the targeted region before. Candidate variants were primarily selected by restricting the minor allele frequency (MAF 1-5%) and then by comparing their frequency in 400 NSCLC patients with 1008 East Asians from The genome Aggregation Database (gnomAD). The associations between candidate variants and NSCLC were discovered and replicated in two case-control sets: discovery stage with 960 cases and 916 controls, and replication stage with 1596 cases and 1614 controls in total. RESULTS: Five low-frequency variants were selected as our candidates and subsequent association analyses showed that 2 polymorphisms were significantly associated with risk of NSCLC, including rs33963617 (OR = 0.63, 95% CI: 0.53-0.76, P = 3.80 × 10-7) in TERT and rs77518573 (OR = 0.73, 95% CI: 0.63-0.84, P = 2.00 × 10-5) in upstream of CLPTM1L. When stratified by histologic subtype, a significant association was only investigated in adenocarcinoma for rs77518573. We also observed an obvious cumulative effect of the two significant variants. CONCLUSIONS: We newly identified two NSCLC related variants on chromosome 5p15.33. Both TERT-rs33963617 and CLPTM1L-rs77518573 conferred reduced risk for NSCLC in Chinese Han population.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas/genética , Neoplasias Pulmonares/genética , Proteínas de la Membrana/genética , Proteínas de Neoplasias/genética , Polimorfismo de Nucleótido Simple , Telomerasa/genética , Anciano , Grupo de Ascendencia Continental Asiática/genética , Carcinoma de Pulmón de Células no Pequeñas/epidemiología , Estudios de Casos y Controles , China/epidemiología , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Neoplasias Pulmonares/epidemiología , Masculino , Persona de Mediana Edad , Factores de Riesgo
17.
Int Heart J ; 61(1): 153-159, 2020 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-31956131

RESUMEN

A previous study and a gene-annotation enrichment analysis for potential targets of the microRNA miR-202-3p both suggest that this microRNA might be implicated in cardiovascular and metabolic diseases. In the present study, the role of miR-202-3p in the pathogenesis of coronary heart disease (CHD) was explored. We conduct a case-control study to detect the expression levels of miR-202-3p in peripheral blood cells and found that miR-202-3p expression was significantly higher in CHD cases than in controls (P < 0.001). miR-202-3p levels were negatively correlated with platelet distribution width (r = -0.348, P = 0.002) and mean platelet volume (r = -0.29, P = 0.01). Further functional analyses suggested that stimulation with oxidized low-density lipoprotein (ox-LDL) induced miR-202-3p expression, and that this microRNA suppressed the formation of ox-LDL-induced macrophage foam cells derived from THP-1 cells in a feedback manner. In addition, miR-202-3p overexpression modulated the expression of several key genes involved in foam cell formation, including that of ABCG4, NCEH1I, and SCARB2. In summary, miR-202-3p was associated with CHD, exerting a protective role against CHD by feedback suppression of ox-LDL-induced macrophage foam cell formation.


Asunto(s)
Grupo de Ascendencia Continental Asiática/genética , Enfermedad Coronaria/genética , Células Espumosas/citología , MicroARNs/genética , Anciano , Estudios de Casos y Controles , Células Cultivadas , Femenino , Células Espumosas/metabolismo , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Lipoproteínas LDL/metabolismo , Macrófagos/citología , Macrófagos/metabolismo , Masculino , Persona de Mediana Edad , Células THP-1 , Regulación hacia Arriba
18.
Gene ; 726: 144173, 2020 Feb 05.
Artículo en Inglés | MEDLINE | ID: mdl-31669639

RESUMEN

A recent study published in GENE performed a meta-analysis on the relationship between genetic variant rs895819 in microRNA-27a and risk of stomach neoplasms, and the results indicated an association of rs895819 with increased risk of stomach neoplasms in heterogenous model among Chinese. However, the meta-analysis did not include one large sample size of study that met inclusion criteria. When including all related studies, our meta-analysis showed no significant association of rs895819 with stomach neoplasms risk in each different model in all population, Chinese and Europeans. Thus, pooling all related studies did not provide evidence on the association of rs895819 with increased risk of stomach neoplasms.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Neoplasias Gástricas/etiología , Neoplasias Gástricas/genética , Grupo de Ascendencia Continental Asiática/genética , Estudios de Casos y Controles , Grupo de Ascendencia Continental Europea/genética , Genotipo , Humanos , MicroARNs/genética , Factores de Riesgo
19.
DNA Cell Biol ; 39(1): 92-104, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31721599

RESUMEN

There is increasing evidence suggesting that dysregulation of miR-155 and its target angiotensin receptor type 1 (AT1R) are linked to the incidence of ischemic stroke (IS), but the underlying mechanisms remain to be clarified. In this study, we therefore sought to investigate how miR-155 and AT1R polymorphisms affect IS risk. We included 579 IS patients and 509 age-matched controls in the present analysis, genotyping individuals for the rs767649 polymorphism in miR-155, as well as for the rs1492099 and rs275653 polymorphisms in AT1R via iMLDR-TM genotyping technology. The allele and genotype frequencies for the assessed polymorphisms were comparable in IS patients and controls, without any detectable association between AT1R haplotype and IS risk. We conducted additional trial of ORG 10172 in acute stroke treatment-mediated stratification, which indicated that the AT1R rs1492099 T allele was linked to a decreased risk of large-artery atherosclerosis (LAA) stroke. We further found that those with the AT1R rs275653 AA genotype had a decreased risk of small-artery occlusion (SAO) strokes. We further confirmed elevated miR-155 expression in IS patients, but observed no link between the rs767649 polymorphism and expression of this microRNA. Similarly, rs1492099 and rs275653 polymorphisms did not impact AT1R expression levels. The miR-155 rs767649 polymorphism does not seem to be a key determinant of IS risk, whereas the AT1R rs1492099 polymorphism is linked to reduced LAA-stroke risk, and the rs275653 AA genotype is potentially protective against SAO strokes.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , MicroARNs/genética , Polimorfismo de Nucleótido Simple , Receptor de Angiotensina Tipo 1/genética , Accidente Cerebrovascular/genética , Anciano , Alelos , Grupo de Ascendencia Continental Asiática/genética , Isquemia Encefálica/complicaciones , China , Femenino , Regulación de la Expresión Génica , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/etnología , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/etnología
20.
DNA Cell Biol ; 39(1): 57-62, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31794672

RESUMEN

Mycobacterium tuberculosis (Mtb) is the causative agent of the disease tuberculosis (TB). Macrophages eliminate the Mtb, delivering it to the degradative, phagolysosomal compartment for degradation, in which reactive oxygen species generated by nicotinamide adenine dinucleotide phosphate oxidase (NADPHO) plays an important role. In our study, we aimed at investigating the association of polymorphisms in neutrophil cytosolic factor 2 (NCF2) gene, the core component of NADPHO, with susceptibility of TB in the Western Chinese Han population. We conducted a case-control study of 900 cases and 1534 controls and genotyped four single-nucleotide polymorphisms within the NCF2 gene. We found that the rs10911362 variants were associated with a decreased TB risk in this population (odds ratio [ORG] = 0.83 [0.72-0.95], ORadd = 0.83 [0.72-0.95], ORdom = 0.78 [0.66-0.93], p < 0.05). rs10911362 might fall in a transcriptional factor binding site associated with ZNF410 and may be the expression quantitative trait loci (eQTL) for the SMG7 gene according to the Ensembl data. Our study demonstrated for the first time that the G allele of NCF2 rs10911362 provided a protective role against TB risk in the Western Chinese Han population.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , NADPH Oxidasas/genética , Polimorfismo de Nucleótido Simple , Tuberculosis/genética , Adulto , Alelos , Grupo de Ascendencia Continental Asiática/genética , Estudios de Casos y Controles , China , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/etnología , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Tuberculosis/etnología , Adulto Joven
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