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1.
Wiad Lek ; 73(1): 25-30, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32124801

RESUMEN

OBJECTIVE: The aim is to identify mRNA expression of innate (TLR2 and TLR4) and adaptive (IL1 ß, IL17A, FoxP3, Tbet, Roryt) immunity in maternal-fetal interface and evaluate the contribution of SNP genes of IL1ß (rs1143627), TNFα (rs1800629), IL4 (rs2243250), IL10 (rs1800896, rs1800872) and RLN2 (rs4742076, rs3758239) to PTB, associated with PPROM in 26-34 weeks of gestation. PATIENTS AND METHODS: Materials and methods: We had done open cohort randomized research during period 2016-2018 years. The case group consisted of 50 women with PPROM in preterm pregnancy, 26-34 weeks of gestation. For the control group we collected samples from 50 women without previous history of PTB. To determine the level of mRNA target genes we used thermocycler CFX96™Real-Time PCR Detection Systems ("Bio-Rad Laboratories, Inc.", USA) and set of reagents Maxima SYBR Green / ROX qPCR MasterMix (2x) (Thermo Scientific, USA). RESULTS: Results: In the population of the Zaporizhzhia region, there is no reliable clinical association between the IL1ß and TNFα genes and a high risk of PTB. We obtained high reliable data on SNP genes RLN2 rs4742076 and rs3758239 in Zaporizhzhia women. The distribution of the rs2243250 gene polymorphism alleles of the IL4 gene of the main study group - TT homozygotes were determined in 2 (4%) cases, CT heterozygotes were found in 11 (22%), CC homozygotes in 37 (74%) cases. In the study of polymorphism rs1800872 of the IL10 gene, the main group of homozygous TT studies was identified in 7 (14%) cases, TG heterozygotes were found in 18 (36%), GG homozygotes in 25 (50%) cases. The range of all obtained values of the relative normalized expression of TLR2 gene in the placenta of 0.79-163.44 (median - 31.06), in the fetal membranes - 1.1-126.06 (median - 10.22). The placement of all obtained values compared to mRNA expression of the TLR4 gene was lower than the TLR2 in the placenta, which was 0.39-43.85 (median - 7.74) and higher in the fetal membranes - 0.18-216.01 (median - 40.04). We observed an 8.33-fold decreased expression in FoxP3 in decidua, especially in 31-32 weeks of PPROM manifestation (27.03-fold). In amniotic membranes a similar trend of reduction of FoxP3 expression was found, overall level decreased in 2.33 times, especially in 31-32 weeks of PPROM manifestation (10.64-fold). CONCLUSION: Conclusions: Among Zaporizhzhia population, combination of IL4 (rs2243250), IL10 (rs1800896 and rs1800872), RLN2 (rs4742076 and rs3758239) supports the role for functional polymorphisms in immunoregulatory genes in the susceptibility to PTL, associated with PPROM. Marked increased transcriptional activity of components of innate (TLR2, TLR4), adaptive (Th1, Th17) immune system and conversely decreased expression of Treg (FoxP3) in the maternal-fetal interface are involved in immune pathways of PTB and contribute in the fetal inflammatory response syndrome.


Asunto(s)
Rotura Prematura de Membranas Fetales , Trabajo de Parto Prematuro , Polimorfismo de Nucleótido Simple , Nacimiento Prematuro , Inmunidad Adaptativa , Alelos , Femenino , Humanos , Recién Nacido , Embarazo
2.
Gene ; 736: 144419, 2020 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-32018016

RESUMEN

OBJECTIVES: To evaluate the relationship between two common single nucleotide polymorphisms (SNPs) of CD40 gene (rs1883832 C/T and rs4810485 G/T) and the risk of immune thrombocytopenia (ITP) in the Egyptian population. METHODS: A case-control study was conducted retrospectively on 101 cases with ITP and 97 healthy subjects. Two SNPs of CD40 gene (rs1883832 C/T and rs4810485 G/T) were genotyped via Taqman allele discrimination real-time PCR. The frequencies of different genetic models of both SNPs were calculated and compared between ITP cases and controls. Linkage analysis was performed between the studied SNPs. Odds ratio (OR) and 95% confidence interval (CI) were assessed using multinomial logistic regression analysis to determine the association of CD40 gene SNPs genotypes, alleles, and haplotypes with the risk of ITP. The odds ratio was further adjusted to the confounders for risk stratification. RESULTS: CD40 (rs1883832) TT genotype carriers have a significantly higher risk of ITP when compared to CC genotype carriers (adjusted OR: 3.792, 95%CI: 1.252-11.49, P = 0.018). T allele also represents 1.711-fold increased risk of ITP which is more evident in males (P = 0.016). No significant difference was observed in the frequency of CD40 (rs4810485 G/T) genetic models between cases and controls. Linkage disequilibrium was found between the two SNPs and revealed four main haplotypes (C-G; C-T; T-G; T-T) with a significantly higher frequency of T-G haplotype in ITP cases than in healthy controls which confers an increased risk of ITP development (OR: 2.349, 95%CI: 1.271-4.339, P = 0.006). CONCLUSIONS: CD40 gene SNP rs1883832 is associated with an increased risk of ITP development in the Egyptian population, while the SNP rs4810485 has no association. Moreover, T-G haplotype is a risk genetic model for ITP.


Asunto(s)
Antígenos CD40/genética , Polimorfismo de Nucleótido Simple/genética , Púrpura Trombocitopénica Idiopática/genética , Adulto , Alelos , Estudios de Casos y Controles , Egipto , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Haplotipos/genética , Humanos , Desequilibrio de Ligamiento/genética , Masculino , Estudios Retrospectivos
3.
Gene ; 736: 144447, 2020 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-32032744

RESUMEN

BACKGROUND: Previous studies indicated that gastric acid secretion was associated with gastric cancer risk. However, it still needs to explore whether the related pathway genetic variation affects GC risk. METHODS: A bioinformatics study in 1625 gastric cancer cases and 2100 controls was conducted to investigate the relationship of genetic variants in eleven gastric acid secretion pathway genes and gastric cancer risk. We used logistic regression model with odds ratios (ORs) and 95% confidence intervals (CIs) to estimate the effect of 38 single nucleotide polymorphisms (SNPs) on gastric cancer susceptibility. Expression quantitative trait loci (eQTL) analysis and the methylation eQTL (meQTL) analysis were used to calculate the genetic effect on gene expression. RESULTS: We identified that the CpG-SNP rs11810577 in GNAI3 was significantly increased gastric cancer risk (OR = 1.19, 95% CI = 1.07-1.32, P = 1.12 × 10-3). Furthermore, rs11810577 T allele had a negative effect on adhesion molecule with Ig like domain 1 (AMIGO1) expression in gastric tissues and increased the methylation levels of cg18220030 and cg15694127 in the promoter region of AMIGO1. Moreover, we found AMIGO1 had a lower expression levels in gastric cancer tissues than normal tissues (P = 0.037), in agreement with the data results from The Cancer Genome Atlas (TCGA) database (P < 1.0 × 10-4). CONCLUSION: The CpG-SNP rs11810577 in GNAI3 in the gastric acid secretion pathway was significantly associated with susceptibility to gastric cancer.


Asunto(s)
Islas de CpG/genética , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Ácido Gástrico/metabolismo , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Vías Secretoras/genética , Neoplasias Gástricas/genética , Alelos , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Glicoproteínas de Membrana/genética , Persona de Mediana Edad , Regiones Promotoras Genéticas/genética , Sitios de Carácter Cuantitativo/genética , Neoplasias Gástricas/metabolismo
4.
Medicine (Baltimore) ; 99(8): e19217, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32080114

RESUMEN

Breast cancer is a molecularly heterogeneous disorder associated with high lethal malignant tumors among women worldwide. Genetic factors play an important role in breast cancer development. Several single nucleotide polymorphisms in the 8q24 region associated with risk of breast cancer have been identified. Fifteen studies including 32,955 cases and 43,716 controls were collected to conduct a meta-analysis to evaluate the associations between variants in 8q24 region and risk of breast cancer. Our study showed that only rs13281615 is associated with breast cancer risk in this large-scale research synopsis and meta-analysis. Further studies are needed to explore the role of the 8q24 variants in the development of breast cancer.


Asunto(s)
Neoplasias de la Mama/genética , Alelos , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Polimorfismo de Nucleótido Simple , Factores de Riesgo
5.
Sci Total Environ ; 714: 136811, 2020 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-32018970

RESUMEN

To test the relationship not yet explored before among earthquake and related environmental factors, low-density lipoprotein receptor (LDLR) and posttraumatic stress disorder (PTSD), the genetic variation of LDLR rs5925 was selected and PTSD was examined by PTSD Checklist-Civilian Version (PCLC) in adolescents with different genotypes of LDLR rs5925 longitudinally at 6, 12 and 18 months after the 2008 Wenchuan earthquake. The C allele carriers were observed to have higher PTSD prevalence than the TT homozygotes in the male subjects, and higher PTSD prevalence and PCL-C scores in the female subjects only at 6 months. When compared to that at 12 months, decreased PTSD prevalence was observed at 18 months only in the female C allele carriers, but not in the female TT homozygotes or the male subjects. The potential risk factors of PTSD and predictors of PCL-C scores were different during the follow-up. LDLR rs5925 was one of the predictors for PCL-C scores at 6 and 12 months, and one of the potential factors for PTSD prevalence at 6 months. These results suggest that interactions may occur between earthquakes and other related environmental factors, which could affect the relationship of LDLR rs5925 with PTSD and be considered for individualized treatment.


Asunto(s)
Terremotos , Receptores de LDL/genética , Trastornos por Estrés Postraumático , Adolescente , Alelos , China , Femenino , Genotipo , Humanos , Masculino , Prevalencia , Factores de Riesgo
7.
Medicine (Baltimore) ; 99(3): e18398, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011434

RESUMEN

BACKGROUND: Recently, several genome-wide association studies have demonstrated a cumulative association of 17q24 rs1859962 gene variants with prostate cancer (PCa) risk, but conflicting results on this issue have been reported. Hence, we performed a systematic literature review and meta-analysis to assess the association between 17q24 rs1859962 gene and PCa risk. METHODS: Systematic literature searches were conducted with PubMed, EMBASE, Science Direct/Elsevier, CNKI, and the Cochrane Library up to January 2019 for studies focusing on the association of 17q24 rs1859962 gene polymorphism with PCa risk. Meta-analysis was performed with Review Manager and stata software. Combined OR were identified with 95% confidence intervals (95% CI) in a random or fixed effects model. RESULTS: Eight studies were identified, including 7863 cases of PCa patients and 17122 normal controls. Our results revealed significant associations between the 17q24 rs1859962 gene polymorphism and PCa in all genetic models (P < 0.05). The combined odds ratios and 95% confidence intervals were as follows: Additive model (odds ratios [ORs] 1.44, 95%, confidence interval [CI] [1.32, 1.57]); Codominant model (ORs 1.22, 95% CI [1.08, 1.39]); Dominant model (ORs 1.25, 95%, CI [1.17, 1.34]); recessive model (ORs 1.27, 95% CI [1.18, 1.36]); allele model (ORs 1.32, 95% CI [1.12, 1.55]). CONCLUSION: The present study supports the proposed association between the 17q24 gene rs1859962 and PCa progression. Specifically, this polymorphism is suggested to be a risk factor of PCa. However, studies with larger sample sizes are needed to better illuminate the correlation between 17q24 rs1859962 gene polymorphism and PCa.


Asunto(s)
Neoplasias de la Próstata/genética , Alelos , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Proyectos de Investigación , Factores de Riesgo
8.
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
9.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(1): 300-306, 2020 Feb.
Artículo en Chino | MEDLINE | ID: mdl-32027293

RESUMEN

OBJECTIVE: To study the single nucleotide polymorphisms (SNPs) in promoter region of the Jk gene and its allele frequency as well as distribution characteristics in the Chinese Han nationality population. METHODS: 127 blood samples containing 8 Jk(a-b-) and 119 samples (as control) taken randomly from voluntary blood donors of Chinese Han nationality persons in Shenzhen Blood Center were collected. The Kidd phenotypes were identified by using the serologic test and urea hemolysis test; the Jk promoter, exon 1-11 region and respective flanking area were amplified and sequenced, then the sequence information was analyzed. RESULTS: 8 Jk(a-b-) samples all carried JkB/JkB allele which belongs to 2 kind of Jknull genotypes commonly observed in Chinese Han nationality population. 6 IVS5-1g>a and 2 896G>A were found in 8 Jk(a-b-) samples. Besides, all Jk(a-b-) samples were homozygous for JkB/JkB allele. Three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene were found and sequenceds calculation of allele and genotype frequencies showed that the result accorded with Hardy-Weinberg equilibrium, indicating that the population in this study possesses representative characteristics of the Chinese Han nationality population. CONCLUSION: The polymorphism of the Jk gene occurs in promoter region. This study calculates the allele frequencies of three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene, and shows their distribution characteristics in distinct Kidd phenotypes. These findings provide the basic foundation for further population genetics research.


Asunto(s)
Polimorfismo de Nucleótido Simple , Alelos , Antígenos de Grupos Sanguíneos , China , Frecuencia de los Genes , Genotipo , Humanos , Sistema del Grupo Sanguíneo de Kidd , Regiones Promotoras Genéticas
10.
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
11.
BMC Med Genet ; 21(1): 25, 2020 02 06.
Artículo en Inglés | MEDLINE | ID: mdl-32028915

RESUMEN

BACKGROUND: The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients of different glycemic status separately. METHODS: This case-control study included a total of 3107 participants from two datasets, among which 662 were DR patients (21.31%). Eighteen tag single nucleotide polymorphisms (SNPs) of UCP1, UCP2, and UCP3 were selected as genetic markers. TaqMan probes, Sequenom MassARRAY MALDI-TOF mass spectrometry platform and Affymetrix Genome-Wide Human SNP Array were used for genotyping. Online SHEsis software was used for association analysis. Bonferroni correction was used for multiple comparisons correction. RESULTS: Three SNPs of UCP1: rs7688743 (A allele, OR = 1.192, p = 0.013), rs3811787 (T allele, OR = 0.863, p = 0.023), and rs10011540 (G allele, OR = 1.368, p = 0.004) showed association with DR after the adjustment of glucose, but only rs10011540 was marginally significantly associated with DR when Bonferroni correction was strictly applied (padj = 0.048). In patients with uncontrolled glucose, rs7688743 (A allele, p = 0.012, OR = 1.309), rs10011540 (G allele, p = 0.033, OR = 1.432), and rs3811787 (T allele, p = 0.022, OR = 0.811) were associated with DR, while in participants with well controlled glucose, the rs2734827 of UCP3 was associated with DR (A allele, p = 0.017, OR = 0.532). Rs3811787 of UCP1 showed a protective effect to sight threatening DR (T allele, p = 0.007, OR = 0.490), and the association existed after the adjustment for environmental factors and the correction. In patients with uncontrolled glucose, the rs3811787 of UCP1 (T allele, p = 0.017, OR = 0.467) and the rs591758 of UCP3 (C allele, p = 0.026, OR = 0.103) were associated with STDR. While in those with well controlled glucose, only the rs7688743 of UCP1 showed a protective effect (A allele, p = 0.024, OR = 0.049). None of the associations remain significant when Bonferroni correction was strictly applied (all p < 0.05). CONCLUSIONS: The rs10011540 and rs3811787 of the UCP1 gene was marginally significantly associated with DR in Chinese type 2 diabetes patients. There might be different mechanisms of DR development in patients with different glycemic status.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Retinopatía Diabética/genética , Predisposición Genética a la Enfermedad , Proteína Desacopladora 1/genética , Anciano , Alelos , Retinopatía Diabética/fisiopatología , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Humanos , Masculino , Persona de Mediana Edad , Proteínas Desacopladoras Mitocondriales/genética , Polimorfismo de Nucleótido Simple/genética , Proteína Desacopladora 2/genética , Proteína Desacopladora 3/genética
12.
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
13.
BMC Med Genet ; 21(1): 36, 2020 02 17.
Artículo en Inglés | MEDLINE | ID: mdl-32066403

RESUMEN

BACKGROUND: Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between rs4977574 and rs1333045 polymorphism genotypes and coronary heart disease (CHD) in a Chinese population. METHODS: Blood samples were collected from 855 subjects. A case-control study was used in this experiment, and 598 cases in the CHD group and 257 subjects in the control group were enrolled. Genotyping was identified by the Agena MassARRAY system. Statistical analysis was conducted by SPSS (Ver 16.0) and plink (Ver. 1.07, Shaun Purcell). Haplotype analysis was performed using Haploview software. RESULTS: Association analysis by plink indicated a significant difference in the allele distribution for single nucleotide polymorphisms between cases and controls (rs4977574 P = 0.003, rs1333045 P = 0.035). Fisher's exact test by plink proved that allele G may be associated with a higher risk of CHD (P = 0.003, odds ratio (OR) = 1.371) and the T allele was likely to reduce the risk of coronary events (P = 0.035, OR = 0.798). The serum levels of apolipoprotein A (ApoA) were higher in subjects with the AG + AA genotype of rs4977574 compared to those with the GG genotype (P = 0.028). In the dominant model of rs1333045, the levels of ApoA were higher and LDL levels were lower in the TC + TT genotype than in the CC genotype. CONCLUSIONS: The present study examined the association between the 9p21 chromosome rs4977574 and rs1333045 polymorphism genotypes and CHD in a population of Chinese patients. The G allele of rs4977574 and the C allele of rs1333045 are the susceptibility sites of CHD.


Asunto(s)
Enfermedad Coronaria/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Anciano , Alelos , Enfermedad Coronaria/fisiopatología , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos/genética , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo
14.
BMC Med Genet ; 21(1): 1, 2020 01 02.
Artículo en Inglés | MEDLINE | ID: mdl-31898538

RESUMEN

BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. METHODS: In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods. RESULTS: Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function. CONCLUSION: A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.


Asunto(s)
Heterogeneidad Genética , Pérdida Auditiva Sensorineural/genética , Factor de Transcripción Asociado a Microftalmía/genética , Miosinas/genética , Edad de Inicio , Alelos , Niño , Femenino , Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/fisiopatología , Heterocigoto , Homocigoto , Humanos , Masculino , Herencia Multifactorial/genética , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Secuenciación del Exoma Completo
15.
Anticancer Res ; 40(1): 27-34, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31892550

RESUMEN

BACKGROUND/AIM: Even though prostate cancer (PCa) has good prognosis, there is a discrepancy in the risk among ethnic groups, with high morbidity in African American men. Single nucleotide polymorphisms (SNPs) in interleukin 10 (IL-10) have been associated with inflammation and cancer risk. We investigated the association of five SNPs in the IL-10 promoter with clinical features such as Gleason score and smoking. MATERIALS AND METHODS: A total of 413 DNA samples were obtained from a nested case-control study of African American males who were genotyped for 5 SNPs utilizing pyrosequencing. Multiple and binary logistic regression models were applied to analyze the clinical and genotypic data. RESULTS: rs12122923 and rs1800871 were associated with PCa risk. Smoking was also found to increase the risk of PCa by 1.6-fold. rs1800893 was found to be associated with lower grades for prostate cancer. CONCLUSION: IL-10 promoter polymorphisms might be a risk factor for PCa development in smoking subjects and PCa progression.


Asunto(s)
Afroamericanos/genética , Interleucina-10/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Neoplasias de la Próstata/etiología , Fumar/efectos adversos , Anciano , Alelos , Biomarcadores , Estudios de Casos y Controles , Susceptibilidad a Enfermedades , Genotipo , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/patología , Medición de Riesgo , Factores de Riesgo
16.
Rev Soc Bras Med Trop ; 53: e20190210, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31994660

RESUMEN

INTRODUCTION: Hepatitis C virus (HCV) infection is involved in the pathogenesis of autoimmune and rheumatic disorders. Although the human platelet antigens (HPA) polymorphism are associated with HCV persistence, they have not been investigated in rheumatological manifestations (RM). This study focused on verifying associations between allele and genotype HPA and RM in patients with chronic hepatitis C. METHODS: Patients (159) with chronic hepatitis C of both genders were analyzed. RESULTS: Women showed association between HPA-3 polymorphisms and RM. CONCLUSIONS: An unprecedented strong association between rheumatological manifestations and HPA-3 polymorphism, possibly predisposing women to complications during the disease course, was observed.


Asunto(s)
Antígenos de Plaqueta Humana/genética , Hepatitis C Crónica/sangre , Hepatitis C Crónica/complicaciones , Polimorfismo Genético/genética , Enfermedades Reumáticas/sangre , Enfermedades Reumáticas/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Antígenos de Plaqueta Humana/sangre , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Adulto Joven
17.
Cancer Sci ; 111(3): 840-848, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31925975

RESUMEN

Ionizing radiation can damage DNA and, therefore, is a risk factor for cancer. Eker rats, which carry a heterozygous germline mutation in the tumor-suppressor gene tuberous sclerosis complex 2 (Tsc2), are susceptible to radiation-induced renal carcinogenesis. However, the molecular mechanisms involved in Tsc2 inactivation are unclear. We subjected Fischer 344 × Eker (Long Evans Tsc2+/- ) F1 hybrid rats to gamma-irradiation (2 Gy) at gestational day 19 (GD19) or postnatal day 5 (PND5) and investigated the patterns of genomic alterations in the Tsc2 allele of renal tumors that developed at 1 year after irradiation (N = 24 tumors for GD19, N = 10 for PND5), in comparison with spontaneously developed tumors (N = 8 tumors). Gamma-irradiation significantly increased the multiplicity of renal tumors. The frequency of LOH at the chromosome 10q12 region, including the Tsc2 locus, was 38%, 29% and 60% in renal carcinomas developed from the nonirradiated, GD19 and PND5 groups, respectively. Array comparative genomic hybridization analysis revealed that the LOH patterns on chromosome 10 in renal carcinomas were classified into chromosomal missegregation, mitotic recombination and chromosomal deletion types. LOH of the interstitial chromosomal deletion type was observed only in radiation-associated carcinomas. Sequence analysis for the wild-type Tsc2 allele in the LOH-negative carcinomas identified deletions (nonirradiated: 26%; GD19: 21%) and base-substitution mutations (GD19: 4%). Reduced expression of Tsc2 was also observed in the majority of the LOH-negative carcinomas. Our results suggest that interstitial chromosomal deletion is a characteristic mutagenic event caused by ionizing radiation, and it may contribute to the assessment of radiation-induced cancer risk.


Asunto(s)
Neoplasias Renales/genética , Proteína 2 del Complejo de la Esclerosis Tuberosa/genética , Esclerosis Tuberosa/genética , Alelos , Animales , Deleción Cromosómica , Cromosomas Humanos Par 10/genética , Hibridación Genómica Comparativa/métodos , Rayos gamma/efectos adversos , Heterocigoto , Humanos , Masculino , Mutación/genética , Ratas , Ratas Endogámicas F344 , Ratas Long-Evans , Riesgo , Proteínas Supresoras de Tumor/genética
18.
Emerg Microbes Infect ; 9(1): 263-274, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31997725

RESUMEN

In the present study, a total of 1102304 serum samples were collected to detected human brucellosis between the years 2012 and 2016 in Inner Mongolia. Overall, an average of 3.79% anti-Brucella positive in Inner Mongolia was presented but the range of positive rates were among 0.90 to 7.07% in 12 regions. Seroprevalence of human brucellosis increased gradually from 2012 to 2016. However, the incidence rate of human brucellosis showed a declining trend. One hundred and seven Brucella strains were isolated and identified as B. melitensis species, and B. melitensis biovar 3 was the predominant biovar. MLVA-11 genotypes 116 was predominant and had crucial epidemiology to the human population. All 107 strains tested were sorted into 75 MLVA-16 genotypes, with 54 single genotypes representing unique isolates. This result revealed that these Brucellosis cases had epidemiologically unrelated and sporadic characteristics. The remaining 21 shared genotypes among two to four strains, confirming the occurrence of cross-infection and multiple outbreaks. Extensive genotype-events were observed between strains from this study and Kazakhstan, Mongolia, and Turkey, these countries were key members of the grassland silk road. Long-time trade in small ruminants (sheep) in these countries has possibly promoted the spread of Brucella spp. in these regions.


Asunto(s)
Brucella/genética , Brucelosis/epidemiología , Alelos , China/epidemiología , Genotipo , Humanos , Filogenia , Estudios Seroepidemiológicos , Factores de Tiempo
19.
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
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 71-74, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922602

RESUMEN

OBJECTIVE: To explore the molecular basis for an individual with ABO subtype. METHODS: The ABO phenotype of the proband was determined by convention serological testing. Exons 6 and 7 of the ABO gene were subjected to PCR amplification and bi-directional Sanger sequencing. Haplotypes for exons 6 and 7 of the proband was determined using an ABO haplotype-specific amplification and sequencing technique. RESULTS: Red blood cells of the proband showed a 4+ agglutination strength with anti-A or anti-H, no agglutination reaction with anti-A1, and a 3+ agglutination strength with anti-B. His serum had no reaction with standard A cells, O cells or self cells, but was weakly reactive with B cells at 4℃. The proband was assigned as an ABO subtype based on his serological features. Bi-directional sequencing of the ABO gene revealed heterozygosity of 261 G/del, 297AG, 526CG, 657CT, 703GA, 803GC and 930GA, and homozygosity of 796CC in the proband. Haplotype-specific amplification and sequencing showed that one of his alleles was ABO*O.01.01, and another contained a c.796A>C variation compared with the ABO*B.01 allele, which led to replacement of methionine by leucine at position 266. Searching the ABO allele database of International Society of Blood Transfusion suggested the variation to be a novel one. CONCLUSION: The c.796A>C variation in the ABO*B.01 allele probably underlies the CisAB subtype. Accurate identification of the ABO subtype requires combined use of serological method and genetic testing.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Variación Genética , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Exones , Genotipo , Humanos , Masculino , Fenotipo , Análisis de Secuencia de ADN
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