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1.
Article in Chinese | WPRIM | ID: wpr-920741

ABSTRACT

Objective To analyze the polymorphism of Plasmodium lactate dehydrogenase (pLDH) gene and predict B-cell epitopes in pLDH peptides in four species of human malaria parasites. Methods The blood samples and epidemiological characteristics were collected from malaria cases in Yunnan Province registered in the National Notifiable Disease Report System. The pLDH genes of four human Plasmodium species were amplified using nested PCR assay and sequenced. The polymorphisms of pLDH genes was analyzed using the software MEGA version 7.0.26 and DnaSP version 5.10, and the B-cell epitopes were predicted in pLDH peptides using the Immune Epitope Database (IEDB). Results The sequences of P. vivax LDH (PvLDH), P. falciparum LDH (PfLDH), P. ovale LDH (PoLDH) and P. malariae LDH (PmLDH) genes were obtained from 153, 29, 17 and 11 blood samples from patients with P. vivax, P. falciparum, P. ovale and P. malariae malaria, respectively, which included 15, 2, 4 and 2 haplotypes and had a nucleotide diversity (π) of 0.104. A high level of intra-species differentiation was seen in the PoLDH gene (π = 0.012), and the π values were all < 0.001 for PvLDH, PfLDH and PmLDH genes. Active regions of B-cell antigen were predicted in the pLDH peptide chain of four human malaria parasites, of 4 to 5 in each chain, and the activity score was approximately 0.430. Among these peptide chains, the “86-PGKSDKEWNRD-96” short-peptide was a B-cell epitope shared by all four species of human malaria parasites, and the “266-GQYGHS (T)-271” short-peptide was present in PvLDH and PoLDH peptide chains, while “212-EEVEGIFDR-220” was only found in the PvLDH peptide chain, and “208-LISDAE-213” was only seen in the PfLDH peptide chain. Conclusions The PoLDH gene polymorphism may be derived from the weak negative purification selection, while PvLDH, PfLDH and PmLDH genes may maintain a relatively conservative state. There may be two B-cell epitopes “212-EEVEGIFDR-220” and “208-LISDAE-213” in the proximal region of the C terminal in the pLDH peptide chain, which is feasible to differentiate between P. vivax and P. falciparum infections.

2.
Rev. colomb. cardiol ; 28(6): 556-563, nov.-dic. 2021. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1357230

ABSTRACT

Abstract Introduction Until now, only few studies have reported the correlation between vesicle-associated membrane protein-8 (VAMP-8) A/G gene polymorphism and acute myocardial infarction. Whereas, theoretically, VAMP-8 plays a pivotal role in the pathogenesis of acute myocardial infarction through platelet activation, secretion, and aggregation. Objective To investigate the association between VAMP-8 A/G gene polymorphism and the risk of acute myocardial infarction. Methods A cross-sectional study was carried out at Saiful Anwar General Hospital during June 2013 - May 2014. A Mae II enzyme with restriction fragment length polymorphism method was used to genotype VAMP-8 A/G gene polymorphisms in acute myocardial infarction and control groups. A multiple logistic regression test was used to analyze the association between VAMP-8 A/G gene polymorphism and the risk of acute myocardial infarction. Results A total of 35 controls and 97 acute myocardial infarction patients from our Hospital during the period were enrolled for our study. Our results found that VAMP-8 A/G gene polymorphism was not associated with the risk of acute myocardial infarction. Moreover, we also failed to confer the association between VAMP-8 A/G gene polymorphism and both smoking and hypertension among patients with acute myocardial infarction. Furthermore, in the setting of premature acute myocardial infarction, the correlation also failed to confirm. Conclusion In our population, there is no association between VAMP-8 A/G gene polymorphism and the risk of acute myocardial infarction.


Resumen Introducción Hasta la fecha, solo unos pocos estudios han reportado la correlación entre el polimorfismo A/G del gen de la proteína de membrana asociada a vesículas-8 (VAMP-8, por sus siglas en inglés) y el infarto agudo de miocardio. Si bien, en teoría, VAMP-8 juega un papel fundamental en la patogénesis del infarto agudo de miocardio a través de la activación, secreción y agregación plaquetaria. Objetivo Investigar la relación entre el polimorfismo A/G del gen VAMP-8 y el riesgo de infarto agudo de miocardio. Métodos: Se llevó a cabo un estudio transversal en Siful Anwar General Hospital entre junio del 2013 y mayo del 2014. Se utilizó la técnica de polimorfismos de longitud de fragmentos de restricción con la enzima Mae II para genotipificar los polimorfismos A/G del gen VAMP-8 en grupos de infarto agudo de miocardio y de control. Se aplicó una prueba de regresión logística múltiple para analizar la relación entre el polimorfismo A/G del gen VAMP-8 y el riesgo de infarto agudo de miocardio. Resultados Se incluyeron un total de 35 controles y 97 pacientes con infarto agudo de miocardio de nuestro Hospital durante el periodo del estudio. Nuestros resultados encontraron que el polimorfismo A/G del gen VAMP-8 no estaba relacionado con el riesgo de infarto agudo de miocardio. Por otra parte, tampoco pudimos establecer una relación entre el polimorfismo A/G del gen VAMP-8 y tanto tabaquismo como hipertensión en pacientes con infarto agudo de miocardio. Asimismo, en el contexto de infarto agudo de miocardio prematuro, tampoco se confirmó la correlación. Conclusión: En nuestra población, no existe una relación entre el polimorfismo A/G del gen VAMP-8 y el riesgo de infarto agudo de miocardio.

3.
Chinese Journal of Rheumatology ; (12): 433-440, 2021.
Article in Chinese | WPRIM | ID: wpr-910191

ABSTRACT

Objective:To investigate the distribution of blood concentration of cyclosporine (CsA) in patients with autoimmune disease in China, and analyze the effect of genetic polymorphisms of CsA-metabolizing enzymes, transporters and target enzymes on CsA levels.Methods:Steady-state trough blood concentrations (CsA C 0) of 193 patients' were detected by enzyme multiplied immunoassay technique. The genotype of the following sites in the included patients were sequenced by reverse transcription-polymerase chain reaction (RT-PCR): cytochrome P450 (CYP) 3A420230C>T, CYP3A56986A>G, ATP binding cassette subfamily B member 1 (ABCB1)1236C>T, ABCB12677G>T/A, ABCB13435C>T, cytochrome P450 oxidoreductase (POR) 1508 C>T and formyl peptide receptor 1 (FPR1) C>G were sequenced by RT-PCR. The influence of the gene polymorphism of the above-mentioned sites on the blood concentration of CsA was analyzed by using One-way analysis of variance (ANOVA), LSD- t test, Chi-square test. Results:One hundred and ninety-three patients included took CsA. The doses ranged from 75-200 mg/d and the patients' blood concentration distribution span was wide (33.0-313.8 ng/ml). The daily dose ( χ2=21.908, P=0.001) and age( F=4.262, P=0.006) had significant effect on the plasma concentration of CsA. ABCB12677G>T/A (rs2032582) gene polymorphism impacted on the unit dose of CsA C 0 (CsA C 0/d), CsA C 0/d [(0.81±0.42) ng·ml -1·mg -1] in wild type (GG) was higher than heterozygous mutant [GT/GA, (0.65±0.30) ng·ml -1·mg -1, P=0.023) and homozygous mutant (TT/AA/TA, (0.66±0.34) ng·ml -1·mg -1, P=0.039). Conclusion:The blood concentration of patients varies greatly among individuals. The Cold of CsA in wild type patients with ABCB12677G>T/A gene is signifficantly higher than that in mutant patients.

4.
Article in Chinese | WPRIM | ID: wpr-909548

ABSTRACT

Anxiety disorders are one of the most common mental health problems, with a high burden of disease, high morbidity and poor adherence to medication. Cognitive-behavioral therapy (CBT) is an evidence-based type of psychotherapy that works well for anxiety disorders, but it differs greatly across individuals. Studies have shown that the efficacy of CBT for anxiety disorders is related to a variety of genes, and these genes play different roles in the efficacy of CBT. There are few relatively studies in China. By exploring the possible mechanism of these genes in the effect of CBT in patients with anxiety disorders, biological markers of anxiety disorders can be further explored, which can provide reference for domestic research in this field and be applied to the diagnosis and treatment of anxiety disorders. This paper summarized the efficacy of CBT in the treatment of anxiety disorders through HPA axis related genes, 5-hydroxytryptamine system related genes, monoamine oxidase system related genes, and neurodevelopmental related genes, and found that these genes were related to the efficacy of CBT in the treatment of anxiety disorders. It mainly included methylation of FK506 binding protein 5 promoter, methylation and polymorphism of 5-HT transporter gene, gene polymorphism of tryptophan hydroxylase 2, gene polymorphism of catechol oxymethyltransferase, and gene polymorphism of monoamine oxidase A, and so on. By studying the relationship between genetics and CBT efficacy in anxiety disorders, we can explore the related loop of how pathogenic genes of anxiety disorders affect CBT efficacy, further clarify the mechanism of genetic factors in the occurrence and development of anxiety disorders, and explore the genetic predictors of CBT efficacy.

5.
Article in Chinese | WPRIM | ID: wpr-908372

ABSTRACT

Objective:To explore the relationship between rs2010963, rs3025039 and rs699947 gene polymorphism of vascular endothelial growth factor(VEGF) gene and bronchopulmonary dysplasia(BPD) in Mongolian premature infants.Methods:A case-control design was used to collect 50 cases of Mongolian premature infants who were hospitalized at the Affiliated Hospital of Inner Mongolia Medical University and diagnosed with BPD from January 2016 to December 2020 as the observation group, while 56 cases of non-BPD premature infants of the same nationality and time period were selected as the control group.Using PCR method to detect the genotype and allele distribution of the VEGF gene rs2010963, rs3025039 and rs699947 locus.Combining clinical data to analyze whether the above gene loci were related to the onset of premature infants with Mongolian BPD in our area.Results:Through genetic testing, it was found that CC, CA and AA genotypes can be detected at the rs699947 site of VEGF gene in premature infants in both the observation group and the control group.The frequencies of the three genotypes in the observation group were 16.0%, 24.0%, and 60.0%, respectively; the frequency of the C allele was 28.0%, the frequency of the A allele was 72.0%, and the frequency of the three genotypes in the control group was 32.1.%, 32.1% and 35.7%, respectively.The frequency of C allele was 48.2%, the frequency of G allele was 51.8%, and the allele and genotype frequencies of this locus between the observation group and the control group were significant differences from those of the control group( P<0.05). Conclusion:The polymorphism of VEGF gene rs699947 locus is associated with the occurrence and development of BPD in Mongolian premature infants, and allele A may be a susceptible factor.

6.
Article in Chinese | WPRIM | ID: wpr-907713

ABSTRACT

Objective:To investigate whether the synonymous variation of the ATP-binding cassette transporter A3 (ABCA3) gene may increase the risk of respiratory distress syndrome (RDS) in Mongolian and Han newborns in Inner Mongolia.Methods:From January 2018 to June 2019, the children of Mongolian and Han nationality who were hospitalized in the Department of Neonatal Pediatrics, affiliated Hospital of Inner Mongolia Medical University and the control group were sequenced by ABCA3 exon gene to analyze whether there was synonymous mutation in ABCA3 gene.Results:A total of 101 children with RDS were enrolled, including 37 children with Mongolian and 64 with Han children. There were 113 patients in the control group, including 45 Mongolian children and 68 Han children. Children with Mongolian and Han nationality RDS and control group can detect multiple synonymous mutation sites, such as: F353F, P585P, A227A, V150V, L982L, A928A, S1372S, P1653P, E1618E, and A1027A, etc, among them, four synonymous variants of p.A227A, p.F353F, p.P585P and p.S1372S are common synonymous mutants. In both Mongolian and Han nationality, the frequency of ABCA3 gene synonymous mutation in RDS group was significantly higher than that in control group (Mongolian: χ2=9.402, P=0.002; Han: χ2=9.348, P=0.002 ). The mutation rates of F353F and P585P in Mongolian and Han children with RDS were higher than those in the control group, and the difference was statistically significant(Mongolian F353F: χ2=5.270, P=0.022; Han F353F: χ2=5.532, P=0.019.Mongolian P585P: χ2=4.711, P=0.030; Han P585P: χ2=4.480, P=0.034). Conclusions:The synonymous variation of ABCA3 gene may increase the risk of RDS in Mongolian and Han newborns in Inner Mongolia, and F353F and P585P may be one of the susceptible genes of RDS in Mongolian and Han newborns in Inner Mongolia.

7.
Article in Chinese | WPRIM | ID: wpr-907293

ABSTRACT

Objective:To investigate the correlation between single nucleotide polymorphism of corticosteroids receptor gene(NR3C1)and children with asthma and to analyze the efficacy of inhaled corticosteroid(ICS)treatment.Methods:The study included a control group(100 healthy children)who participated in the physical examination and an asthma group(101 children with bronchial asthma)who were hospitalized in the General Hospital of the Northern Theater Command from October 2018 to October 2020.Genomic DNA was extracted from peripheral blood samples of all enrolled subjects and then the polymorphism of the glucocorticoid receptor gene locus of NR3C1 was analyzed using SNaPshot SNP gene detection technology.The comparisons of allele frequency in rs41423247、rs7701443 between two groups were performed and the treatment effects of ICS in the asthma group were evaluated at the 12th week of treatment.Results:The frequencies of GG, GC, and CC genotypes of rs41423247 locus of NR3C1 were 75.2%, 21.8%, and 3.0% in the asthma group and 72.0%, 24.0%, and 4.0% in the control group, respectively, and there were no statistically significant differences between the two groups( χ2=0.333, P>0.05). The frequencies of GG, GA, and AA genotypes of rs7701443 locus of NR3C1 were 45.5%, 39.6%, and 14.9% in the asthma group and 56.0%, 31.0%, and 13.0% in the control group, respectively, and there were no statistically significant differences between the two groups( χ2=2.259, P>0.05). After ICS treatment, the C-ACT/ACT scores were not significantly improved in children with CC genotypes at rs41423247 locus( P>0.05), while children with GG and GC genotypes were obviously improved( P<0.05). The scores of C-ACT/ACT showed obvious differences among three genotypes of rs41423247 locus after treatment with ICS( P<0.05). The C-ACT/ACT scores of all were significantly improved in children with GG, GA, or AA genotypes at rs7701443 locus after treatment with ICS( P<0.05), while there was no significant difference among those three genotypes( P>0.05). Significantly improved pulmonary function following ICS treatment in children with asthma was observed in GG and GC genotypes of rs41423247 locus of NR3C1( P<0.05), while only MMEF was improved in CC genotype( P<0.05). Meanwhile, those pulmonary function indexes were improved in all genotypes of rs7701443 after treatment with ICS( P<0.05). Conclusion:Both rs41423247 and rs7701443 locus at NR3C1 gene have polymorphisms.But there were no significant differences in the polymorphism of rs41423247 and rs7701443 locus of NR3C1 between the asthma group and the control group.Different genotype frequencies of rs41423247 and rs7701443 at NR3C1 locus in children with asthma have different effects on ICS treatment.

8.
Article in Chinese | WPRIM | ID: wpr-877622

ABSTRACT

OBJECTIVE@#To compare the curative effect on diarrhea-predominant irritable bowel syndrome (IBS-D) between acupuncture for regulating @*METHODS@#A total of 231 patients with IBS-D were randomized into an acupuncture group (154 cases) and a western medication group (77 cases) at the ratio of 2 to 1. In the acupuncture group, acupuncture was applied to acupoint regimen for regulating @*RESULTS@#After treatment and in follow-up, the total scores of IBS-SSS in the patients of the two groups were all reduced as compared with those before treatment (@*CONCLUSION@#Acupuncture for regulating


Subject(s)
Acupuncture Therapy , Diarrhea/therapy , Humans , Irritable Bowel Syndrome/therapy , Quality of Life , Serotonin Plasma Membrane Transport Proteins/genetics , Spleen , Treatment Outcome
9.
Journal of Preventive Medicine ; (12): 563-567, 2021.
Article in Chinese | WPRIM | ID: wpr-877283

ABSTRACT

Objective@#To analyze the association between recombinant solute carrier family 11, member 1 ( SLC11A1 ) rs17235409 polymorphism and treatment failure of pulmonary tuberculosis, so as to provide the basis for the prevention and treatment of pulmonary tuberculosis.@*Methods@#The patients with pulmonary tuberculosis registered for treatment at the Urumqi Center for Disease Control and Prevention in 2019 was recruited and collected demographic, clinical and treatment information from National Infectious Diseases Reporting System. The polymorphism of SLC11A1 rs17235409 was detected by multiple ligase chain reaction and Hardy-Weinberg balance test was performed. The multivariate logistic regression analysis was conducted for the association between rs17235409 and the treatment outcome of tuberculosis.@*Results@#A total of 731 cases of pulmonary tuberculosis patients were enrolled, and 37 cases failed, with a failure rate of 5.06%. The failure rate of the patients with G/A was 8.55%, with G/G was 4.23%. The results of multivariate logistic regression analysis showed that the patients with G/A were more likely to fail in the treatment than those with G/G ( OR=2.213, 95%CI: 1.041-4.702 ). The males with G/A were more likely to fail in the treatment than those with G/G ( OR=2.547, 95%CI: 1.021-6.356 ). @*Conclusion@#The rs17235409 polymorphism of SLC11A1 is associated with the failure of tuberculosis treatment, and the patients with G/A are more likely to fail.

10.
Article in Chinese | WPRIM | ID: wpr-876857

ABSTRACT

Objective To study the effect of SLCO1B1 521 T>C and APOE gene polymorphisms on the clinical efficacy and safety of atorvastatin in ischemic stroke patients with dyslipidemia. Methods 210 cases of ischemic stroke with dyslipidemia were enrolled from April 2018 to December 2018 to determine SLCO1B1 521 T>C and APOE gene polymorphisms. Patients received atorvastatin 20 mg/d orally. TC, TG, HDL-C, LDL-C levels were measured to evaluate the efficacy 3 months pre-and post- treatment. TBil, ALT, AST, CK levels were assayed with following up adverse reactions to evaluate safety. Results SLCO1B1 521 T>C genotype distribution was TT79.05%, TC19.05%, CC1.90%. E2, E3, E4 allele frequencies of APOE genes were 14.28%, 67.62%, 18.10%. Each genotype conforms to the law of Hardy-Weinberg balance. After three months of medication, there were significant differences in TC, TG, LDL-C, HDL-C changes in patients with different APOE genotypes. No obvious abnormality was found in safety index. The incidence of myalgia in SLCO1B1521 T>C mutant group was significantly higher than that in the wild group (P<0.01). Conclusion Lipid regulation of atorvastatin was affected by APOE gene polymorphism. SLCO1B1521 T>C may be associated with myalgia, the adverse reaction of atorvastatin. The detection of SLCO1B1 and APOE genotyping is helpful for individualized treatment of blood lipids and provides basis for rational use of statins in patients for drug therapy management.

11.
Article in Chinese | WPRIM | ID: wpr-876465

ABSTRACT

@#Chronic periodontitis is an infectious disease caused by plaque as the initiating factor. Clinically, it manifests as irreversible loss of hard tissue, leading to the destruction of surrounding periodontal tissue, including the deep periodontal pocket, loss of attachment, and finally, tooth loss. Interleukin-18 (IL-18) can promote inflammation and regulate immune function and plays an important role in mediating the host immune response and inflammatory response. An increase in IL-18 in vivo can induce the production of interferon and inflammatory factors, such as interleukin, tumor necrosis factor and matrix metalloproteinase, thus mediating the dual reaction of immunity and inflammation. These inflammatory factors are involved in the occurrence and development of chronic periodontitis. Many clinical studies have shown that the levels of IL-18 in serum, saliva, gingival crevicular fluid and gingival tissue samples of patients with chronic periodontitis may be positively correlated with the severity of periodontitis; however, as a candidate gene, IL-18 is involved in the susceptibility polymorphism of periodontitis. Understanding how to quantify the level of IL-18 in clinical studies and apply it to diagnostic tools and new sites identified by new methods (genome-wide association studies and omics research) will also deepen our understanding of the pathogenesis of IL-18 in chronic periodontitis and provide new ideas for future precision medicine and the formulation of personalized programs. In this paper, the structure, biological function and association between IL-18 and periodontitis are reviewed.

12.
Article in Chinese | WPRIM | ID: wpr-847148

ABSTRACT

BACKGROUND: Urate transporters such as GLUT9, URAT1, NPT1 and ABCG2 are directly involved in the regulation of human serum uric acid levels. The gene polymorphism of urate transporter is closely related to the occurrence and development of gout. Therefore, the targeted therapy of urate transporter is a new way to treat gout. OBJECTIVE: To summarize the research progress of polymorphism expression of urate transporter in gout and its correlation with clinical drugs in recent years, therefore providing literature and theoretical basis for further exploration of personalized treatment of gout and hyperuricemia. METHODS: The first author searched CNKI, WanFang database and PubMed database. The key words were “Gout, Urate transporter, Hyperuricemia, Polymorphism, GWAS, Therapy” in Chinese and English, respectively. Totally 131 literatures were retrieved. According to the inclusion and exclusion criteria, 78 articles regarding the genetic polymorphism of urate transporter in gout and the correlation between the mechanism of action of gout drugs and urate transporter were screened out and summarized. RESULTS AND CONCLUSION: A large number of studies have shown that urate transporter polymorphism is closely related to uric acid homeostasis, with GLUT9, URAT1, NPT1 and ABCG2 being the most important. These proteins are differentially expressed in different populations and are closely related to the reaction mechanism of gout drugs. In the future diagnosis and treatment, the results of these studies can help assess the need for treatment in patients with hyperuricemia, and help patients with gout formulate personalized and effective treatment plans. It may be a feasible solution to treat hyperuricemia by activating BCRP to enhance the clearance of uric acid in the intestine.

13.
China Pharmacy ; (12): 2388-2393, 2021.
Article in Chinese | WPRIM | ID: wpr-886922

ABSTRACT

OBJECTIVE:To study the relationship of polymorphism of clopidogrel absorption and metabolism related genes CYP2C19(* 2,* 3,* 17),ABCB1 C3435T and PON1 Q192R in patients with coronary heart disease in Xinjiang Uygur Autonomous Region ,and to explore the characteristics of population and combined diseases. METHODS :A total of 1 126 patients with coronary heart disease who underwent clopidogrel absorption and metabolism related gene testing during hospitalization in the First Affiliated Hospital of Xinjiang Medical University from January 2016 to June 2020 were included as the study subjects. The gender,age,body mass index (BMI),nationality and the proportion of combined with hypertension and diabetes were compared among different CYP2C19 metabolic phenotypes and ABCB1 C3435T and PON1 Q192R genotypes. RESULTS :Among 1 126 patients,1 126 had CYP2C19 * 2,* 3 and * 17 genotypes,1 109 had ABCB1 C3435T genotype and 1 123 had PON1 Q192R genotype. The distribution of each genotype was in line with Hardy-Weinberg balance (P>0.05). There were 66(5.86%), com 459(40.76%),476(42.27%) and 125(11.10%)patients with CYP2C19 ultra-rapid metabolizer (UM), extensive metabolizer(EM),intermediate metabolizer (IM)and poor metabolizer(PM),respectively. The proportion of patients with UM metabolism phenotype with BMI >24 was significantly higher than those of patients with IM and PM metabolism phenotypes (P<0.05). The proportion of Han nationality patients with UM metabolic phenotype was significantly lower than those of patients with EM ,IM and PM metabolic phenotypes (P<0.05);the proportion of Uygur nationality was significantly higher than that of patients with EM ,IM and PM metabolic phenotypes (P< 0.05). There were 355,538 and 216 patients with ABCB1 C3435T wild-type(CC),heterozygous(CT)and mutant homozygous (TT)genotypes,respectively;the proportion of Han nationality in TT genotype patients was significantly lower than that in CC and CT genotype patients (P<0.05),and the proportion of Uygur nationality was significantly higher than that in CC and CT genotype patients (P<0.05);the proportion of TT genotype patients with diabetes was significantly higher than that of patients with CT genotype (P<0.05). There were 365,519 and 239 patients with PON1 Q192R wild-type(GG),heterozygous(GA)and mutant homozygous (AA),respectively;the proportion of Han nationality in AA genotype patients was significantly lower than that in GG and GA genotype patients (P<0.05),and the proportion of Uygur nationality was significantly higher than that of GG and GA genotype patients (P<0.05);the proportion of Han nationality and BMI ≤24 in patients with AA genotype were significantly lower than those with GA genotype (P<0.05),and the proportion of Uygur nationality ,BMI>24 and hypertension were significantly higher than those in GA genotype patients (P<0.05). CONCLUSIONS :There are significant nationality differences among patients with different CYP2C19 metabolic phenotypes and ABCB1 C3435T and PON1 Q192R genotypes. In addition,patients with BMI >24 account for high proportion among CYP2C19 UM metabolism genotype ;patients with diabetes account for high proportion among ABCB1 C3435T TT genotype ;patients with BMI >24 and hypertension account for high proportion among PON1 Q192R AA genotype.

14.
Article in Chinese | WPRIM | ID: wpr-886564

ABSTRACT

Objective@#Systematic evaluation of the correlation of HLA-DQB1 and HLA-DRB1 allele polymorphisms with caries, to provide reference for caries prevention and treatment. @*Methods@# Relevant literature published before December 2020 was searched in the Cochrane Library, PubMed, Embase, Web of Science, Scopus, CNKI, Wanfang, VIP, and CBM databases. Meta-analysis was performed using the R4.0.2 software to test for heterogeneity and evaluate the publication bias.@*Results @# In total,10 case-control studies were included with 564 people in the case group and 676 people in the control group. The results of the Meta-analysis show that: ① HLA-DQB1*02 (OR=0.52, 95%CI=0.29-0.93, P < 0.05) and HLA-DRB1*09 (OR=0.34, 95%CI=0.21-0.58, P < 0.05) are protective factors of dental caries; ② HLA-DRB1*13 (OR=2.96, 95%CI=2.03-4.33, P < 0.05) and HLA-DRB1*14 (OR=1.95, 95%CI=1.26-3.02, P < 0.05) alleles are risk factors for the development of dental caries. The results of the subgroup analysis are: HLA-DRB1*07 is a caries susceptibility factor in the Chinese population (OR=0.48, 95% CI=0.24-0.97, P < 0.05), while it is not statistically significant in the Brazilian and Turkish populations; HLA-DRB1*11 is a caries protective factor in the saliva group (OR=2.26, 95% CI=1.46-3.52, P < 0.05). 3.52, P < 0.001), while it is a caries susceptibility factor in the blood group (OR=0.09, 95% CI=0.12-0.34, P < 0.001). @*Conclusion @#HLA-DRB1*13 and HLA-DRB1*14 alleles are caries susceptibility genes, and HLA-DQB1*02 and HLA-DRB1*09 have protective effects on the caries development. HLA-DRB1*07 is a caries susceptibility gene in the Chinese population; HLA-DRB1*11 is a caries protective gene in the saliva group. Due to the limited sample size and quality of the included studies, more high-quality studies will be included later for verification.

15.
Organ Transplantation ; (6): 496-2021.
Article in Chinese | WPRIM | ID: wpr-881537

ABSTRACT

Tacrolimus (Tac) is a commonly used immunosuppressant after organ transplantation, which has high immunosuppressive efficacy. However, the pharmacokinetics of Tac significantly differ among individuals, and gene polymorphism is the main influencing factor. In recent years, the gene polymorphism of drug transporter has become a novel research hotspot. Nevertheless, the effect of the gene polymorphism of transporter on Tac pharmacokinetics remains controversial. Consequently, the correlation between the gene polymorphism of transporter and Tac blood concentration plays a significant role in guiding Tac-based individualized immunosuppressive therapy. In this article, the research progresses on the gene polymorphism of adenosine triphosphate-binding cassette (ABC) transporter and solute carrier (SLC) transporter in organ transplantation was reviewed. The correlation between the gene polymorphism of transporter and Tac blood concentration was summarized, aiming to provide reference for Tac-based individualized therapy.

16.
Article in Chinese | WPRIM | ID: wpr-862743

ABSTRACT

Objective To study the correlation of plasma homocysteine (Hcy) levels with the gene polymorphisms of homocysteine metabolic enzymes in physical examination in Nan Chong. Methods A cross-sectional study design was adopted. A total of 470 Han people who received physical examination in the outpatient clinic of Nanchong Central Hospital were enrolled in this study. Blood samples were collected from the research subjects, and general clinical data of the subjects were collected. The plasma Hcy level was determined by a commercial homocysteine assay kit. Genomic DNA was extracted, and a newly-developed technology (improved Multiplex Ligation Detection Reaction, iMLDR) was used to detect target genes and SNPs. The gene polymorphism of Hcy metabolism enzymes MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was detected, and its correlation with plasma levels of Hcy was analyzed. Results (1) The distribution frequency of the heterozygous genotype of MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G was 46.38%, 35.32%, 17.45%, and 40.85%, while the distribution frequency of the homozygous genotype was 12.13%, 4.04%, 1.49%, and 7.66%, respectively. There was no statistically significant difference in allele frequencies between male and female populations by chi-square test (2) The detection rate of hyperhomocysteinemia (HHcy) was 34.68%. There was significant difference in the levels of plasma Hcy among the three genotypes of MTHFR C677T, and the heterozygous genotype and homozygous genotype of MTHFR C677T increased the risk of HHcy by 2.97 times and 1.917 times, respectively. The genotypes of MTHFR A1298C, MTR A2756G, and MTRR A66G were not found to be correlated with the risk of HHcy. Conclusion MTHFR C677T CT and TT genotypes elevate the plasma Hcy level. The gene polymorphisms of MTHFR A1298C, MS A2756G and MTRR A66G are not risk factors for HHcy.

17.
China Occupational Medicine ; (6): 324-328, 2021.
Article in Chinese | WPRIM | ID: wpr-923172

ABSTRACT

OBJECTIVE: To explore the distribution characteristics of single nucleotide polymorphism(SNP) rs7072793 and rs3118470 in the 5′ flanking region of(cluster of differentiation 25, CD25) gene in Han males in the naturally high radiation background area(HBRA). METHODS: A random sampling method was used to select 48 and 51 healthy Han males from Tangkou town(HBRA group) in Yangjiang City and Hengpo town(control group) in Enping City, respectively, as the study subjects. The molecular mass array method was used to classify the genotype of the SNP sites rs7072793 and rs3118470 of CD25 gene in these subjects. The distribution difference of the alleles and genotypes was analyzed in individuals of these two groups. The allele frequency of HBRA population was compared with the distribution data of different populations in the Human Genome Project.RESULTS: The distribution of allele frequencies of rs7072793 and rs3118470 in both groups were consistent with the H-W equilibrium law of genetics(all P>0.05). In the HBRA group, variant allele C(58.3%) and genotype TC(50.0%) were dominant at rs7072793, wild-type allele T(55.2%) and genotype TC(56.2%) were dominant at rs3118470. There was no significant difference in the allele and genotype distributions between these two groups(all P>0.05). There was a difference of rs7072793 in the HBRA group compared to that of African and European populations, and rs3118470 in the HBRA group compared with the allele distribution frequencies in Africa, Europe and America populations(all P<0.05). CONCLUSION: In the male population of Han nationality in Yangjiang HBRA area, the alleles of rs7072793 and rs3118470 in the 5′ flanking region of CD25 gene were mainly C and T, respectively, and the genotypes were mainly TC. These two loci may have high genetic variability.

18.
J Cancer Res Ther ; 2020 Sep; 16(4): 718-725
Article | IMSEAR | ID: sea-213692

ABSTRACT

Aim of Study: There were many reports published on the relationship between glutathione S-transferase T1 (GSTT1) null/presence gene polymorphism and the risk of lung cancer in these years. In previous, we conducted a meta-analysis to evaluate the relationship between GSTT1 null/presence gene polymorphism and the risk of lung cancer. This study was conducted to update it. Materials and Methods: The association studies were identified from PubMed and Cochrane Library on March 1, 2016. Results: Sixty-three reports were recruited into this meta-analysis for the association of null genotype of GSTT1 with lung cancer susceptibility, consisting of 21,220 patients with lung cancer and 21,496 controls. There was a marked association between GSTT1 null genotype and lung cancer risk in overall populations and in Asians (overall populations: Odds ratio [OR] = 1.17, 95% confidence interval [95% CI]: 1.07–1.28, P = 0.006; Asians: OR = 1.41, 95% CI: 1.23–1.62, P < 0.00001). However, GSTT1 null genotype was not associated with the risk of lung cancer in Caucasians, Brazilian population, and Africans. Conclusion: GSTT1 null genotype is associated with the lung cancer risk in overall populations and in Asians

19.
Article | IMSEAR | ID: sea-210256

ABSTRACT

Introduction:An acute phase response to tissue injury leads to release of pro inflammatory and anti inflammatory cytokines. TNF alpha isan early pro inflammatory cytokine that released in SIRS and largely responsible for clinical manifestation of sepsis. The release of TNF alpha is influenced by messenger RNA transcription of TNF alpha gene. In patients with severe sepsis genomic polymorphism with in the TNF locus found to be associated with TNF alpha production and outcome.Objectives:To evaluate genetic polymorphism of TNF alpha gene at c 850 t locus, influence on TNF alpha expression and on outcome. Materials and Methods:A prospective cohort study conducted at our institute between June 2007 to 2009 in 100 cases. Serum TNF alpha levels measured by using ELISA .TNF alpha polymorphism done at c850t locus in 100 patients and were compared with 70 controls who were normal subjects. By using MEDCALC software mean and standard deviations were calculated, continuous variables were compared using t-test. ROC curves were used to determine the predictive capability of the variables.Results:The most common polymorphism observed was CT in 51 patients. The significant different TNF alpha level expression between the three groups were observed. Significant Tallele was observed in cases (100) when compared with controls (70), p= 0.0002. Conclusion: Genetic polymorphism of TNF alpha gene may play critical role in stress response and outcome of the patient but it needs to be validated in large number of population

20.
Biosci. j. (Online) ; 36(5): 1750-1759, 01-09-2020. tab
Article in English | LILACS | ID: biblio-1147928

ABSTRACT

Lupus nephritis (LN) is a major contributor to morbidity and mortality in patients with Systemic Lupus Erythematosus (SLE). This study aims to investigate the possible role of a functional polymorphism in the regulatory region of the monocyte chemo-attractant protein-1 (MCP-1) gene and MCP-1 blood level in the diagnosis of LN and in correlating the MCP-1 blood levels with disease activity. The study included 56 SLE patients and 56 controls. All the SLE patients suffered from LN. An analysis of MCP-1 gene polymorphism by polymerase chain reaction was performed followed by restriction fragment length polymorphism (PCR-RFLP) analysis and MCP-1 blood level was determined using the ELISA technique. Calculation of Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) was performed. Serologic tests included the determination of antinuclear antibody (ANA) and anti-double-stranded (ds) DNA antibodies, Complement C3 and C4 levels. A significant increase in the frequency of genotype A/G and a decrease in the frequency of genotype A/A were found among patients with active LN compared to inactive LN. There was a statistically significant difference in the blood level of MCP-1 between LN patients and controls. Also, MCP-1 blood levels were significantly higher in active LN patients than inactive LN. A significant positive linear correlation was detected between MCP-1 blood level and SLEDAI, creatinine, and 24 hours protein in LN patients. These results suggest that an A/G genotype together with the measurement of the blood level of MCP-1 can be a useful tool for detection and follow up of active LN.


A nefrite do lúpus (LN) é um dos principais contribuintes para a morbidade e mortalidade em pacientes com o Lúpus Eritematoso Sistémico (LES). Este estudo tem como objetivo investigar o possível papel de um polimorfismo funcional na região reguladora do gene da proteína quimioatraente de monócitos-1 (MCP-1) e do nível sanguíneo de MCP-1 no diagnóstico de LN e na correlação do sangue de MCP-1 níveis com atividade da doença. O estudo incluiu 56 pacientes com LES e 56 controles. Todos os pacientes com LES sofriam de LN. Uma análise do polimorfismo do gene MCP-1 por reação em cadeia da polimerase foi realizada seguida pela análise do polimorfismo do comprimento do fragmento de restrição (PCR-RFLP) e o nível sanguíneo do MCP-1 foi determinado pela técnica ELISA. O cálculo do índice de atividade da doença sistêmica do lúpus eritematoso (SLEDAI) foi realizado. Os testes sorológicos incluíram a determinação de anticorpos antinucleares (ANA) e anticorpos anti-DNA de fita dupla (ds), níveis de Complemento C3 e C4. Um aumento significativo na frequência do genótipo A/G e uma diminuição na frequência do genótipo A/A foram encontrados entre os pacientes com LN ativo em comparação com o LN inativo. Houve uma diferença estatisticamente significante no nível sanguíneo de MCP-1 entre pacientes com LN e controles. Além disso, os níveis sanguíneos de MCP-1 foram significativamente mais altos em pacientes com LN ativo do que com LN inativo. Uma correlação linear positiva significativa foi detectada entre o nível sanguíneo de MCP-1 e SLEDAI, creatinina e proteína de 24 horas em pacientes com LN. Esses resultados sugerem que um genótipo A/G, juntamente com a medição do nível sanguíneo de MCP-1, pode ser uma ferramenta útil para a detecção e acompanhamento do LN ativo


Subject(s)
Polymorphism, Genetic , Lupus Nephritis , Receptors, CCR2
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