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1.
Digestion ; : 1-13, 2021 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-34818221

RESUMO

BACKGROUND: Colorectal cancer (CRC) is one of the common malignant tumors, with high mortality and poor prognosis. Our study aimed to determine the association between the long noncoding RNA (LncRNA) C5orf66 polymorphism and CRC risk in southern Chinese Han population. METHOD: Using the experimental design of "case-control" study (512 cases and 513 controls), we selected 4 candidate single-nucleotide polymorphisms (SNPs) of C5orf66. All candidate SNPs were genotyped by Agena MassARRAY. Logistic regression was used to analyze the association between SNPs and CRC risk. Then, we used false-positive report probability analysis to detect whether the significant result is just a chance or noteworthy observation. Multi-factor dimensionality reduction was used to analyze the interaction of "SNP-SNP" in CRC risk. RESULTS: Our results showed that C5orf66 SNPs rs4976270 (odds ratio [OR] = 1.69, p = 0.021) and rs639933 (OR = 1.67, p = 0.024) were, respectively, associated with increasing CRC risk in the southern Chinese Han population. Stratified analysis showed that rs4976270 and rs639933 were significantly associated with an increased risk of CRC in subgroups (>60 years, body mass index ≤24 and drinking) under multiple genetic models. In addition, rs254563 and rs647161 also had potential association with CRC risk in subgroups (BMI ≤24 and drinking). Finally, haplotype analysis results showed that haplotype "TA" was significantly associated with increased CRC risk (OR = 1.21, confidence interval = 1.47-2.02, p = 0.043). CONCLUSION: Our study provides a new idea for the risk assessment of CRC. LncRNA C5orf66 SNPs have a certain association with CRC risk in the southern Chinese Han population.

2.
BMC Med Genomics ; 14(1): 257, 2021 10 30.
Artigo em Inglês | MEDLINE | ID: mdl-34717601

RESUMO

BACKGROUND: Type 2 Diabetes (T2D) is the result of a combination of genes and environment. The identified genetic loci can only explain part of T2D risk. Our study is aimed to explore the association between CTNNA3 single nucleotide polymorphisms (SNPs) and T2D risk. METHODS: We conducted a 'case-control' study among 1002 Chinese Han participants. Four candidate SNPs of CTNNA3 were selected (rs10822745 C/T, rs7920624 A/T, rs2441727 A/G, rs7914287 A/G), and logistic regression analysis was used to evaluate the association between candidate SNPs and T2D risk. We used single factor analysis of variance to analyze the differences of clinical characteristics among different genotypes. In this study, haplotype analysis was conducted by plink1.07 and Haploview software and linkage disequilibrium (LD) was calculated. The interaction of candidate SNPs in T2D risk was evaluated by multi-factor dimensionality reduction (MDR). Finally, we conducted a false-positive report probability (FPRP) analysis to detect whether the significant findings were just chance or noteworthy observations. RESULTS: The results showed that CTNNA3-rs7914287 was a risk factor for T2D ('T': OR = 1.33, p = 0.003; 'TT': OR = 2.21, p = 0.001; 'TT' (recessive): OR = 2.09, p = 0.001; Log-additive: OR = 1.34, p = 0.003). The results of subgroup analysis showed that rs7914287 was significantly associated with the increased risk of T2D among participants who were older than 60 years, males, smoking, drinking, or BMI > 24. We also found that rs2441727 was associated with reducing the T2D risk among participants who were older than 60 years, smoking, or drinking. In addition, rs7914287 was associated with T2D patients with no retinal degeneration; rs10822745 and rs7920624 were associated with the course of T2D patients. High density lipoprotein levels had significant differences under different genotypes of rs10822745. Under the different genotypes of rs7914287, the levels of aspartate aminotransferase, alanine aminotransferase and gamma-glutamyltransferase were also significantly different. CONCLUSION: We found that CTNNA3 genetic polymorphisms can be used as a new genetic signal of T2D risk in Chinese Han population. Especially, CTNNA3-rs7914287 showed an outstanding and significant association with T2D risk in both overall analysis and subgroup analysis.

3.
Genes Genomics ; 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34533693

RESUMO

BACKGROUND: Thyroid hormones are critical regulators of metabolism, development and growth in mammals. However, the genetic association of thyroid-related hormones in the Chinese Han population is not fully understood. OBJECTIVE: We aimed to identify the genetic loci associated with circulating thyroid-related hormones concentrations in the healthy Chinese Han population. METHODS: Genotyping was performed in 124 individuals using Applied Biosystems™ Axiom™ PMDA, and 796,288 single nucleotide polymorphisms (SNPs) were available for the GWAS analysis. For replication, eleven SNPs were selected as candidate loci for genotyping by Agena MassARRAY platform in additional samples (313 subjects). The values of p < 5 × 10- 6 suggest a suggestively significant genome-wide association with circulating thyroid-related hormones concentrations. RESULTS: We identified that rs11178277 (PTPRB, p = 4.88 × 10- 07) and rs7320337 (LMO7DN-KCTD12, p = 1.22 × 10- 06) were associated with serum FT3 level. Three SNPs (rs4850041 in LOC105373394-LINC01249: p = 3.55 × 10- 06, rs6867291 in LINC02208: p = 2.40 × 10- 06 and rs79508321 in WWOX: p = 3.35 × 10- 06) were related to circulating T3 level. Rs12474167 (LOC105373394-LINC01249, p = 1.65 × 10- 06) and rs1864553 (IWS1, p = 2.00 × 10- 06) were associated with circulating T4 concentration. The association with TGA concentration was for rs17163542 in DISP1 (p = 3.46 × 10- 06) and rs12601151 in NOG-C17orf67 (p = 2.72 × 10- 07). Two genome-level significant SNPs (rs2114707 in LINC01314, p = 1.69 × 10- 06 and rs12601151, p = 1.41 × 10- 07) associated with serum TMA concentration were identified. Moreover, rs6083269 (CST1-CST2, p = 3.36 × 10- 06) was a significant locus for circulating TSH level. In replication, rs12601151 in NOG-C17orf67 was still associated with serum TGA level (p = 0.012). CONCLUSIONS: The GWAS reported 11 new suggestively significant loci associated with circulating thyroid-related hormones levels among the Chinese Han population. These findings represented suggestively biological candidates for circulating thyroid-related hormones levels and provided new insights into the mechanisms of regulating serum TGA concentration.

4.
Biol Trace Elem Res ; 2021 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-34417961

RESUMO

Mineral elements (copper (Cu), zinc (Zn), calcium (Ca), magnesium (Mg), iron (Fe)) play important biological roles in enzymes, hormones, vitamins, and normal metabolism. The deficiency of mineral elements can lead to abnormal physiological functions. And some elements (such as lead (Pb)) are harmful to the body. We aim to identify genetic loci which can influence the serum levels of mineral elements (Cu, Zn, Ca, Mg, Fe, and Pb). Genotyping was performed using Applied Biosystems Axiom™ PMDA in 587 individuals, and 6,423,076 single-nucleotide polymorphisms (SNPs) were available for the genome-wide association study (GWAS) analysis. The association between genotype and phenotype was analyzed using mixed linear regression (additive genetic model) adjusting by age and gender combined with identical by descent (IBD) matrix. Genetic loci in BCHE-LOC105374194, DTX2P1-UPK3BP1-PMS2P11, VAT1L, LINC00908-LINC00683, LINC01310-NONE, and rs6747410 in VWA3B were identified to be associated with serum Cu element concentration (p < 5 × 10-6). ADAMTSL1 rs17229526 (p = 4.96 × 10-6) was significantly associated with serum Zn element levels. Genetic loci in LRP1B, PIGZ-MELTF, LINC01365-LINC02502, and HAPLN3 were related to serum Ca element levels (p < 5 ×1 0-6). Three SNPs in ALPK1, ASAP1-ADCY8 and IER3IP1-SKOR2 also achieved a significant association with Mg element levels (p < 5 × 10-6). TACSTD2-MYSM1, LRP1B, and ASAP1-ADCY8 showed suggestive associations with serum Fe element levels (p < 5 × 10-6). Moreover, the two most significant SNPs associated with Pb were rs304234 in CADPS-LINC00698 (p = 2.47 × 10-6) and rs12666460 in LOC101928211-GPR37 (p = 1.81 × 10-6). In summary, we reported 19 suggestive loci associated with serum mineral elements in the Chinese Han population. These findings provided new insights into the potential mechanisms regulating serum mineral elements levels.

5.
BMC Pulm Med ; 21(1): 213, 2021 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-34233676

RESUMO

OBJECTIVE: Chronic obstructive pulmonary disease (COPD) is a complicated multi-factor, multi-gene disease. Here, we aimed to assess the association of genetic polymorphisms in LINC01414/ LINC00824 and interactions with COPD susceptibility. METHODS: Three single nucleotide polymorphisms (SNPs) in LINC01414/LINC00824 was genotyped by Agena MassARRAY platform among 315 COPD patients and 314 controls. Logistic analysis adjusted by age and gender were applied to estimate the genetic contribution of selected SNPs to COPD susceptibility. RESULTS: LINC01414 rs699467 (OR = 0.73, 95% CI 0.56-0.94, p = 0.015) and LINC00824 rs7815944 (OR = 0.56, 95% CI 0.31-0.99, p = 0.046) might be protective factors for COPD occurrence, while LINC01414 rs298207 (OR = 2.88, 95% CI 1.31-6.31, p = 0.008) risk-allele was related to the increased risk of COPD in the whole population. Rs7815944 was associated with the reduced risk of COPD in the subjects aged > 70 years (OR = 0.29, p = 0.005). Rs6994670 (OR = 0.57, p = 0.007) contribute to a reduced COPD risk, while rs298207 (OR = 7.94, p = 0.009) was related to a higher susceptibility to COPD at age ≤ 70 years. Rs298207 (OR = 2.54, p = 0.043) and rs7815944 (OR = 0.43, p = 0.028) variants was associated COPD risk among males. Rs7815944 (OR = 0.16, p = 0.031) was related to the reduced susceptibility of COPD in former smokers. Moreover, the association between rs298207 genotype and COPD patients with dyspnea was found (OR = 0.50, p = 0.016), and rs7815944 was related to COPD patients with wheezing (OR = 0.22, p = 0.008). CONCLUSION: Our finding provided further insights into LINC01414/LINC00824 polymorphisms at risk of COPD occurrence and accumulated evidence for the genetic susceptibility of COPD.


Assuntos
Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , RNA Longo não Codificante/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , China , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade
6.
BMC Pulm Med ; 21(1): 129, 2021 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-33879098

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by incomplete reversible airflow limitation and chronic inflammatory response lesions. This study mainly explored whether FGFR2 and MGAT5 polymorphisms affected the risk of COPD in the Chinese people. METHODS: Five variants in FGFR2 and MGAT5 were chosen and genotyped using Agena MassARRAY platform from 315 COPD patients and 314 healthy controls. The correlation of FGFR2 and MGAT5 with COPD susceptibility was evaluated with odds ratio (OR) and 95% confidence interval (CI) via logistic regression. RESULTS: We found rs2420915 enhanced the risk of COPD, while rs6430491, rs2593704 reduced the susceptibility of COPD (p < 0.05). Rs2420915 could promote the incidence of COPD in the elderly and nonsmokers. Rs1907240 and rs2257129 also increased the susceptibility to COPD in nonsmokers (p < 0.05). MGAT5-rs2593704 played a protective role in COPD development in different subgroups (age ≤ 70, male, smokers, and individuals with BMI ≤ 24 kg/m2). Meanwhile, rs6430491 was linked with a lower risk of COPD in nonsmoking and BMI ≤ 24 kg/m2 subgroups. CONCLUSIONS: We concluded that FGFR2 and MGAT5 genetic polymorphisms are correlated with the risk of COPD in the Chinese people. These data underscored the important role of FGFR2 and MGAT5 gene in the occurrence of COPD and provided new biomarkers for COPD treatment. TRIAL REGISTRATION: NA.


Assuntos
N-Acetilglucosaminiltransferases/genética , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China , Feminino , Predisposição Genética para Doença , Variação Genética , Estudo de Associação Genômica Ampla , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , não Fumantes , Doença Pulmonar Obstrutiva Crônica/fisiopatologia , Fumantes
7.
Arch. bronconeumol. (Ed. impr.) ; 56(11): 697-703, nov. 2020. graf, tab
Artigo em Inglês | IBECS | ID: ibc-198925

RESUMO

INTRODUCTION: Cytochrome P450 (CYP) 2J2 is a major enzyme that controls epoxyeicosatrienoic acids biosynthesis, which may play a role in chronic obstructive pulmonary disease (COPD) development. In this study, we aimed to assess the influence of CYP2J2 polymorphisms with COPD susceptibility. MATERIAL AND METHODS: A case-control study enrolled 313 COPD cases and 508 controls was to investigate the association between CYP2J2 polymorphisms and COPD risk. Agena MassARRAY platform was used to genotype CYP2J2 polymorphisms. Odds ratios (OR) and 95% confidence intervals (CI) were calculated to evaluate the association between CYP2J2 polymorphisms and COPD risk. RESULTS: We observed rs11207535 (homozygote: OR = 0.08, 95%CI = 0.01-0.96, p = 0.047; recessive: OR = 0.08, 95%CI = 0.01-0.94, p = 0.044), rs10889159 (homozygote: OR = 0.08, 95%CI = 0.01-0.92, p = 0.043; recessive: OR = 0.08, 95%CI = 0.01-0.90, p = 0.040) and rs1155002 (heterozygote: OR = 1.63, 95%CI = 1.13-2.36, p = 0.009; dominant: OR = 1.64, 95%CI = 1.15-2.35, p = 0.006; additive: OR = 1.45, 95%CI = 1.09-1.92, p = 0.011) were significantly associated with COPD risk. Allelic tests showed T allele of rs2280274 was related to a decreased risk of COPD and T allele of rs1155002 was associated with an increased COPD risk. Stratified analyses indicated the effects of CYP2J2 polymorphisms and COPD risk were dependent on gender and smoking status (p < 0.05). Additionally, two haplotypes (Ars11207535Crs10889159Trs1155002 and Ars11207535Crs10889159Crs1155002) significantly decreased COPD risk. CONCLUSION: It suggested CYP2J2 polymorphisms were associated with COPD susceptibility in the Chinese Han population


INTRODUCCIÓN: El citocromo P450 (CYP) 2J2 es una enzima importante que controla la biosíntesis de los ácidos epoxieicosatrienoicos, y que podría desempeñar un papel en el desarrollo de la enfermedad pulmonar obstructiva crónica (EPOC). En este estudio, nuestro objetivo fue evaluar la influencia de los polimorfismos de CYP2J2 en la susceptibilidad a la EPOC. MATERIALES Y MÉTODOS: Se realizó un estudio de casos y controles que incluyó 313 casos de EPOC y 508 controles para investigar la asociación entre los polimorfismos de CYP2J2 y el riesgo de desarrollar EPOC. Se utilizó la plataforma Agena MassARRAY para genotipar los polimorfismos de CYP2J2. Se calcularon los odds ratio (OR) con unos intervalos de confianza (IC) del 95% para valorar la asociación entre los polimorfismos de CYP2J2 y el riesgo de la EPOC. RESULTADOS: Observamos que rs11207535 (homocigoto: OR: 0,08, IC 95%: 0,01-0,96; p = 0,047; recesivo: OR: 0,08; IC 95%: 0,01-0,94; p = 0,044), rs10889159 (homocigoto: OR: 0,08, IC 95%: 0,01-0,92; p = 0,043; recesivo: OR: 0,08, IC 95%: 0,01-0,90; p = 0,040) y rs1155002 (heterocigoto: OR: 1,63, IC 95%: 1,13-2,36; p = 0,009; dominante: OR: 1,64, IC 95%: 1,15-2,35; p = 0,006; aditivo: OR: 1,45, IC 95%: 1,09-1,92; p = 0,011) se asociaron significativamente con el riesgo de EPOC. Las pruebas alélicas mostraron que el alelo T de rs2280274 estaba relacionado con una disminución del riesgo de EPOC y el alelo T de rs1155002 se asoció con un mayor riesgo de EPOC. Los análisis estratificados indicaron que los efectos de los polimorfismos de CYP2J2 y el riesgo de EPOC dependían del sexo y del tabaquismo (p < 0,05). Además, 2 haplotipos (Ars11207535Crs10889159Trs1155002 y Ars11207535Crs10889159Crs1155002) reducían significativamente el riesgo de la EPOC. CONCLUSIÓN: El estudio sugirió que los polimorfismos de CYP2J2 se asociaban con la susceptibilidad a la EPOC en la población Han China


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Doença Pulmonar Obstrutiva Crônica/etnologia , Doença Pulmonar Obstrutiva Crônica/genética , Polimorfismo de Nucleotídeo Único , Sistema Enzimático do Citocromo P-450/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Fatores de Risco , Técnicas de Genotipagem , Fatores Sexuais , China , Grupo com Ancestrais do Continente Asiático/genética
8.
Public Health Genomics ; 23(5-6): 200-209, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33113544

RESUMO

BACKGROUND: Common malignant tumors of the urinary system include renal cell carcinoma, bladder carcinoma, and prostate cancer. The research on the CYP24A1 gene for prostate cancer is mainly concentrated in European and American populations, and there are few studies in the Chinese population. Therefore, we selected bladder cancer, prostate cancer, and renal cancer as the research objects to explore the influence of CYP24A1 on the genetic susceptibility of urinary system tumors. MATERIALS AND METHODS: rs6068816, rs2296241, rs2762934, and rs1570669 in 529 patients and 523 controls were genotyped via the Agena MassARRAY. Logistic regression analysis was used to evaluate the odd ratios (ORs) and 95% confidence intervals (CIs) of two SNPs with susceptibility of urinary system cancer. Database predicts the expression of the CYP24A1 gene in urinary system cancer. RESULTS: Individuals with the AG genotype of CYP24A1 rs1570669 has a 28% lower risk of developing urinary system tumors (OR = 0.72, 95% CI: 0.56-1.13, p = 0.016) and has a 31% lower risk of developing renal cancer (OR = 0.69, 95% CI: 0.51-0.92, p = 0.012). CONCLUSIONS: CYP24A1 rs1570669 may play an important role in the susceptibility of tumors of the urinary system and renal cancer.


Assuntos
Predisposição Genética para Doença , Neoplasias Renais/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Urológicas/genética , Vitamina D3 24-Hidroxilase/genética , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Variação Genética , Genótipo , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco
9.
Genomics ; 112(6): 4399-4405, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32738269

RESUMO

PURPOSE: Genetic polymorphisms act a crucial role in chronic obstructive pulmonary disease (COPD) progression. This study aimed to investigate the correlation between CYP3A4 variants and COPD risk. METHODS: We carried out a case-control study of 821 individuals (313 patients and 508 healthy subjects) to identify the correlation of CYP3A4 SNPs with COPD risk in the Hainan Han population. The association was evaluated by Odds ratios (OR) and 95% confidence intervals (CI). RESULTS: Our study showed that rs4646437 polymorphism was related to a significantly increased susceptibility to COPD (OR 1.45, 95% CI = 1.10-1.90, p = 0.008). Stratified analyses indicated that rs4646437 polymorphism was significantly related to an increased risk of COPD in males (OR 1.95, 95% CI = 1.19-3.20, p = 0.008). However, rs4646440 played a protective role in females (OR 0.54, 95% CI = 0.31-0.93, p = 0.024). Rs4646437 was found to significantly improve the risk of COPD in smokers (OR 1.67, 95% CI = 1.12-2.48, p = 0.011). While rs4646440 had a significantly lower susceptibility to COPD in non-smokers (OR 0.64, 95% CI = 0.45-0.90, p = 0.010). Haplotype analysis revealed that Ars4646440Trs35564277 haplotype of CYP3A4 was found to increase the risk of COPD in non-smokers (OR 1.71, 95% CI = 1.04-2.82, p = 0.034). CONCLUSION: Our result gives a new understanding of the association between CYP3A4 gene and COPD in the Hainan Han population.


Assuntos
Citocromo P-450 CYP3A/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China/etnologia , Feminino , Frequência do Gene , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Doença Pulmonar Obstrutiva Crônica/etnologia , Fumar
10.
COPD ; 17(5): 595-600, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32757668

RESUMO

Chronic obstructive pulmonary disease (COPD) is a high incidence in the elderly and significantly affects the quality of life. CYP2C9 and CYP2C19 play an important role in tobacco-related diseases and inflammatory reactions. Thus, we aim to investigate the association between CYP2C9/CYP2C19 polymorphisms and the risk of COPD. In this study, a total of 821 subjects were recruited which include 313 COPD cases and 508 healthy controls. Seven SNPs of CYP2C9/CYP2C19 were selected for genotyping. The odds ratios (ORs) and 95% confidence interval (95% CI) were calculated using logistic regression analysis to evaluate the association between COPD risk and CYP2C9/CYP2C19 polymorphisms. Our study showed that A allele of rs9332220 in CYP2C9 was associated with reducing COPD risk (OR = 0.64, 95% CI = 0.43-0.94, p = 0.021). And rs111853758 G allele carrier could significantly decrease 0.35-fold COPD risk compared with T allele carrier (OR = 0.65, 95% CI = 0.45-0.96, p = 0.027). Furthermore, sex-based stratification analysis showed that rs9332220 and rs111853758 polymorphisms were associated with the risk of COPD in males. This is the first study to investigate the association between CYP2C9 and CYP2C19 genetic polymorphisms and COPD risk, which may give a new perspective on the prevention and diagnosis of COPD.

11.
Mol Genet Genomic Med ; 8(9): e1369, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32638549

RESUMO

BACKGROUND: Despite targeted sequencing have identified several mutations for leukemia, there is still a limit of mutation screening for Chinese leukemia. Here, we used targeted next-generation sequencing for testing the mutation patterns of Chinese leukemia patients. METHODS: We performed targeted sequencing of 504 tumor-related genes in 109 leukemia samples to identify single-nucleotide variants (SNVs) and insertions and deletions (INDELs). Pathogenic variants were assessed based on the American College of Medical Genetics and Genomics (ACMG) guidelines. The functional impact of pathogenic genes was explored through gene ontology (GO), pathway analysis, and protein-protein interaction network in silico. RESULTS: We identified a total of 4,655 SNVs and 614 INDELs in 419 genes, in which PDE4DIP, NOTCH2, FANCA, BCR, and ROS1 emerged as the highly mutated genes. Of note, we were the first to demonstrate an association of PDE4DIP mutation and leukemia. Based on ACMG guidelines, 39 pathogenic and likely pathogenic mutations in 27 genes were found. GO annotation showed that the biological process including gland development, leukocyte differentiation, respiratory system development, myeloid leukocyte differentiation, mesenchymal to epithelial transition, and so on were involved. CONCLUSION: Our study provided a map of gene mutations in Chinese patients with leukemia and gave insights into the molecular pathogenesis of leukemia.


Assuntos
Loci Gênicos , Mutação INDEL , Leucemia/genética , Polimorfismo de Nucleotídeo Único , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Idoso , Proteínas do Citoesqueleto/genética , Proteína do Grupo de Complementação A da Anemia de Fanconi/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas c-bcr/genética , Receptor Notch2/genética , Análise de Sequência de DNA
12.
Rev Sci Instrum ; 91(6): 064701, 2020 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-32611026

RESUMO

In this paper, a single-well model based on the piecewise function and classical bistable stochastic resonance (CBSR) is proposed. The steady state probability density of particles and mean first passage time in the model are calculated. The output characteristics and performance of the proposed model are analyzed through numerical simulation. On the basis of CBSR and the proposed model, an adaptive system is established (ACSSR) to generate the highest gain of signal-to-noise ratio (SNRg). Finally, the effectiveness of ACSSR in weak signal detection is verified with both simulated and experimental input signals. The results indicate that the ACSSR could detect the defect signal correctly and improve the SNRg.

13.
Arch Bronconeumol (Engl Ed) ; 56(11): 697-703, 2020 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32224017

RESUMO

INTRODUCTION: Cytochrome P450 (CYP) 2J2 is a major enzyme that controls epoxyeicosatrienoic acids biosynthesis, which may play a role in chronic obstructive pulmonary disease (COPD) development. In this study, we aimed to assess the influence of CYP2J2 polymorphisms with COPD susceptibility. MATERIAL AND METHODS: A case-control study enrolled 313 COPD cases and 508 controls was to investigate the association between CYP2J2 polymorphisms and COPD risk. Agena MassARRAY platform was used to genotype CYP2J2 polymorphisms. Odds ratios (OR) and 95% confidence intervals (CI) were calculated to evaluate the association between CYP2J2 polymorphisms and COPD risk. RESULTS: We observed rs11207535 (homozygote: OR=0.08, 95%CI=0.01-0.96, p=0.047; recessive: OR=0.08, 95%CI=0.01-0.94, p=0.044), rs10889159 (homozygote: OR=0.08, 95%CI=0.01-0.92, p=0.043; recessive: OR=0.08, 95%CI=0.01-0.90, p=0.040) and rs1155002 (heterozygote: OR=1.63, 95%CI=1.13-2.36, p=0.009; dominant: OR=1.64, 95%CI=1.15-2.35, p=0.006; additive: OR=1.45, 95%CI=1.09-1.92, p=0.011) were significantly associated with COPD risk. Allelic tests showed T allele of rs2280274 was related to a decreased risk of COPD and T allele of rs1155002 was associated with an increased COPD risk. Stratified analyses indicated the effects of CYP2J2 polymorphisms and COPD risk were dependent on gender and smoking status (p<0.05). Additionally, two haplotypes (Ars11207535Crs10889159Trs1155002 and Ars11207535Crs10889159Crs1155002) significantly decreased COPD risk. CONCLUSION: It suggested CYP2J2 polymorphisms were associated with COPD susceptibility in the Chinese Han population.


Assuntos
Predisposição Genética para Doença , Doença Pulmonar Obstrutiva Crônica , Estudos de Casos e Controles , China , Sistema Enzimático do Citocromo P-450/genética , Humanos , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética
14.
Respir Res ; 21(1): 86, 2020 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-32295578

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a complex pulmonary disease. Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) belongs to cytochrome P450 superfamily of enzymes responsible for metabolism, its single nucleotide polymorphisms (SNPs) were reported to be involved in metabolism in the development of many diseases. The study aimed to assess the relation between CYP4F2 SNPs and COPD risk in the Hainan Han population. METHOD: We genotyped five SNPs in CYP4F2 in 313 cases and 508 controls by Agena MassARRAY assay. The association between CYP4F2 SNPs and COPD risk were assessed by χ2 test and genetic models. Besides, logistic regression analysis was introduced into the calculation for odds ratio (OR) and 95% confidence intervals (CIs). RESULTS: Allele model analysis indicated that rs3093203 A was significantly correlated with an increased risk of COPD. Also, rs3093193 G and rs3093110 G were associated with a reduced COPD risk. In the genetic models, we found that rs3093203 was related to an increased COPD risk, while rs3093193 and rs3093110 were related to a reduced risk of COPD. After gender stratification, rs3093203, rs3093193 and rs3093110 showed the association with COPD risk in males. With smoking stratification, rs3093144 was significantly associated with an increased risk of COPD in smokers. CYP4F2 SNPs were significantly associated with COPD risk. CONCLUSIONS: Our findings illustrated potential associations between CYP4F2 polymorphisms and COPD risk. However, large-scale and well-designed studies are needed to determine conclusively the association between the CYP4F2 SNPs and COPD risk.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Família 4 do Citocromo P450/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Vigilância da População , Doença Pulmonar Obstrutiva Crônica/genética , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Predisposição Genética para Doença/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Distribuição Aleatória
15.
Int J Chron Obstruct Pulmon Dis ; 14: 2103-2115, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31564857

RESUMO

Introduction: Chronic obstructive pulmonary disease (COPD) is a lung disease closely related to exposure to exogenous substances. CYP2B6 can activate many exogenous substances, which in turn affect lung cells. The aim of this study was to assess the association of single-nucleotide polymorphisms (SNPs) in CYP2B6 with COPD risk in a Chinese Han population. Materials and methods: Genotypes of the five candidate SNPs in CYP2B6 were identified among 318 cases and 508 healthy controls with an Agena MassARRAY method. The association between CYP2B6 polymorphisms and COPD risk was evaluated using genetic models and haplotype analyses. Results: In allele model, we observed that rs4803420 G and rs1038376 A were related to COPD risk. And rs4803420 G/T and G/T-T/T were related to a decreased COPD risk compared to GG genotype in the co-dominant and dominant models, respectively. When comparing with the AA genotype, rs1038376 A/T and A/T-T/T were associated with an increased COPD risk in the co-dominant and dominant models, respectively. Further gender stratification co-dominant and dominant models analysis showed that genotype G/T and G/T-T/T of rs4803420, and genotype A/T and A/T-T/T of rs1038376 were significantly associated with COPD risk compared to the wide type in males and females, while allele C of rs12979270 was only associated with COPD risk in females. Smoking status stratification analysis showed that rs12979270 C was significantly associated with an increased COPD risk under the allele model compared with allele A in the smoking subgroup. Haplotype analysis showed that haplotype GTA and TAA were related to COPD risk. Conclusion: Our data is the first to demonstrate that CYP2B6 polymorphisms may exert effects on COPD susceptibility in the Chinese Han population.


Assuntos
Citocromo P-450 CYP2B6/genética , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Idoso , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/enzimologia , Doença Pulmonar Obstrutiva Crônica/etnologia , Medição de Risco , Fatores de Risco
16.
Mol Genet Genomic Med ; 7(8): e773, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31270965

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality worldwide and is characterized by a partially reversible airflow limitation. Currently, many studies put forward that COPD is associated with both genetic and environmental factors. It has been reported that germline mutations in telomerase are risk factors for COPD susceptibility. In this study, we validated the association between TERT polymorphisms and COPD risk with a case-control study in the Chinese Li population. METHODS: A total of 279 COPD patients and 290 control individuals were recruited. We identified five single nucleotide polymorphisms (SNPs) in TERT that were associated with COPD. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models after adjusting for age and gender to assess the association. RESULTS: In the genetic model analysis, we found the "C/T-T/T" genotype of rs10069690 in TERT was associated with an increased COPD risk in the dominant model (p = 0.046); the rs2853677 in TERT was significantly associated with increased COPD risk based on the codominant model ("A/G" genotype, p = 0.033), dominant model (A/G-G/G genotype, p = 0.0091), and log-additive model (p = 0.023). The rs2853676 in TERT could increase the risk of COPD in the dominant model ("C/T-T/T" genotype, p = 0.026) and in the Log-additive model (p = 0.022). CONCLUSION: Our data shed new light on the association between TERT SNPs and COPD susceptibility in the Chinese Li population.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Telomerase/genética , Adulto , Idoso , Estudos de Casos e Controles , China/epidemiologia , Suscetibilidade a Doenças , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Fatores de Risco
17.
Mol Genet Genomic Med ; 7(4): e00585, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30729744

RESUMO

BACKGROUND: In China, lung cancer is also the most commonly diagnosed cancer with a lower 5-year survival rate, leading to high social burdens. Recently, many studies highlighted the importance of inflammation in the initiation and progression of cancer. The goal of this study was to investigate the association between interleukin-4 (IL-4, OMIM#147780) single nucleotide polymorphisms (SNPs) and lung cancer susceptibility. METHODS: A case-control study was conducted in a Chinese population including 199 male patients with lung cancer and 266 healthy men. Six SNPs selected from the HapMap database were genotyped using Agena MassARRAY. Genetic models and haplotype analyses were utilized to evaluate the association between SNPs and lung cancer risk. RESULTS: In our findings, rs2243250 was associated with a decreased lung cancer risk under the log-additive model (odds ratio, OR = 0.71, 95% confidence interval, CI = 0.51-0.97, p = 0.030), and the G/G genotype of rs2227284 conferred a negative effect; the risk of lung cancer under the codominant (OR = 0.19, 95% CI = 0.04-0.87, p = 0.040) and recessive models (OR = 0.20, 95% CI = 0.04-0.88, p = 0.012) after adjusted by age. CONCLUSIONS: These data indicated potential associations between IL-4 polymorphisms and lung cancer susceptibility. That may help to improve the understanding of the relationship between inflammation and lung cancer in the future.


Assuntos
Interleucina-4/genética , Neoplasias Pulmonares/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , China , Humanos , Masculino , Pessoa de Meia-Idade
18.
Mol Genet Genomic Med ; 7(3): e531, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30575333

RESUMO

BACKGROUND: MicroRNAs (miRNAs) are a family of small noncoding RNAs and are essential in the regulation of gene expression. Their impacts on gene expression have been reported in various diseases. The role of hypoxia-inducible factor 1 alpha (HIF-1α) in the development and progression of chronic obstructive pulmonary disease (COPD) has also been demonstrated. However, the role of microRNA-186 (miR-186) in relation to HIF in COPD is unknown. METHODS: Cell culture experiments were performed using human lung fibroblast cells (MRC-5). Cell viability was determined by MTT and flow cytometry assays. Reverse transcriptase-polymerase chain reaction (RT-PCR) and Western blot analysis were used to assess the expression levels of HIF-1α and inflammatory cytokines. Dual-luciferase reporter assays were used to reveal the correlation between miR-186 and HIF-1α. RESULTS: After miR-186 transfection, the cell lines showed reduced proliferation and increased apoptosis. After overexpression of miR-186, we found that the HIF-1α expression level was reduced in MRC-5 cells. We found that miR-186 can affect apoptosis of inflammatory fibroblasts through the regulation of HIF-1α and affect the downstream signaling pathways. CONCLUSIONS: These data suggested that miR-186 contributes to the pathogenesis of COPD and that miRNA-186 may also affect the HIF-1α-dependent lung structure maintenance program.


Assuntos
Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , MicroRNAs/genética , Doença Pulmonar Obstrutiva Crônica/metabolismo , Apoptose , Linhagem Celular Tumoral , Proliferação de Células , Citocinas/genética , Citocinas/metabolismo , Fibroblastos/metabolismo , Fibroblastos/fisiologia , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , MicroRNAs/metabolismo , Doença Pulmonar Obstrutiva Crônica/genética
19.
J Gene Med ; 20(12): e3061, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30397981

RESUMO

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a disease characterized by airflow limitation. It is not completely reversible and shows progressive development. ZNF208 rs8105767 affects telomere length, although the impact of telomere on COPD is still controversial. In the present study, we aimed to explore the impact of the ZNF208 gene polymorphism on telomere length and also that of telomere length on COPD in the Hainan Li population. METHODS: In total, 270 COPD patients and 288 controls were recruited. Telomere length was measured by a quantitative real-time polymerase chain reaction. Five single nucleotide polymorphisms in ZNF208 were selected and genotyping was performed using MassARRAY software (Agena Bioscience Co. Ltd, San Diego, CA, USA). Differences in telomere length among the subjects with three genotypes of related genes were assessed using analysis of variance. Unconditional logistic regression was used to calculate odds ratios (OR) as the indicator of association between telomere length and COPD risk. RESULTS: Relative telomere length in the COPD group and control group was 0.66 ± 0.47 and 1.44 ± 0.89, respectively. We grouped according to a median of 0.8284 for telomere length and observed that the risk of COPD for individuals with a telomere length less than 0.8284 is 2.92 times that for individuals with a telomere length longer than 0.8284 (OR = 2.92, 95% confidence interval = 2.01-4.25, p = 1.91 × 10-8 ). Subjects carrying the G allele of rs2188972 had a longer telomere length. Subjects carrying the carrying the CA genotype of rs8103163 and AC genotype of rs7248488 had a longer telomere length compared to wild-type individuals. CONCLUSIONS: Shorter telomeres increase COPD risk and the ZNF208 polymorphism affects telomere length in COPD patients.


Assuntos
Predisposição Genética para Doença/genética , Fatores de Transcrição Kruppel-Like/genética , Polimorfismo de Nucleotídeo Único , Doença Pulmonar Obstrutiva Crônica/genética , Homeostase do Telômero/genética , Telômero/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Proteínas de Ligação a DNA , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Doença Pulmonar Obstrutiva Crônica/etnologia , Fatores de Transcrição
20.
Clin Respir J ; 12(1): 126-133, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27216214

RESUMO

OBJECTIVES: We investigated prevalence and risk factors of chronic obstructive pulmonary disease (COPD) in a population of Hlai (the Li) ethnicity, a major minority, in Qicha Town, Changjiang County, Hainan Province, PRC, during 2014. METHODS: All residents at the age of 40 years or older were interviewed with standardized questionnaires. Spirometry was performed to measure the possible airflow limitation. According to the GOLD criteria, post bronchodilator FEV1/FVC < 70% was defined as COPD. Case-control study was used to screen the risk factors by analyzing COPD group (212 cases) and non-COPD control group (236 cases). Single factor analysis and multiple factor logistic regression analysis were used as statistical methods. RESULTS: The prevalence of COPD in the residents at the age of 40 years or older of Hlai community was 5.07% (286/5637) (95% CI = 0.045-0.057). In the logistic regression analysis, the COPD prevalence was 5.07% (147/2901) in men and 5.08% (139/2736) in women, respectively, with odds ratio (OR) 1.003, 95% CI 0.790-1.272 and P > 0.05, suggesting that the sex did not affect the COPD prevalence in the investigated samples, but age (OR = 1.096), expectoration (OR = 87.917), locomotor activity limitation (OR = 3.908) and frequency of respiration (OR = 2.512) were risk factors and associated with the development of COPD. Notably, although the tobacco smoker in male and female COPD patients were 48.6% (54/111) and 4.0% (4/101), respectively, passive smokers in female with COPD were 45.6% (46/101). CONCLUSION: In the Hlai population aged ≥40 years, the COPD prevalence was 5.07%. Smoking, age, expectoration, locomotor activity limitation and frequency of respiration were risk factors of COPD in Hlai ethnicity.


Assuntos
Grupos Étnicos , Doença Pulmonar Obstrutiva Crônica/etnologia , Medição de Risco/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Prevalência , Fatores de Risco , Inquéritos e Questionários
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