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Objective@#To explore the molecular mechanism of resveratrol (RES) in the treatment of oral squamous cell carcinoma (OSCC) through the use of biological information methods such as network pharmacology and molecular docking and to provide a theoretical reference for the clinical application of RES in the treatment of OSCC.@*Methods@#The Swiss Target Prediction(http://www.swisstargetprediction.ch), SEA (http://sea.bkslab.org)database, and Pharm mapper database(http://lilab-ecust.cn) were used to retrieve RES-related targets, and the DISGENET (www.disgenet.org), OMIM (https://omim.org) and GeneCards (https://www.genecards.org) databases were used to screen OSCC disease targets. The intersection of drugs and disease targets was determined, and Cytoscape 3.7.2 software was used to construct a "drug-diseasetarget pathway" network. The Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) database was used to construct a target protein interaction network, and the DAVID database was used for enrichment analysis of key proteins. Finally, molecular docking validation of key proteins was performed using AutoDock and PyMOL. The enrichment analysis and molecular docking results were integrated to predict the possible molecular mechanisms of RES treatment in OSCC; western blot was used to determine the effect of resveratrol at different concentrations (50, 100) μmol/L on the expression of Src tyrosine kinase (SRC), epidermal growth factor receptor (EGFR), estrogen receptor gene 1 (ESR1), and phosphatidylinositol 3 kinase/protein kinase B (PI3K/AKT) signaling pathway proteins in OSCC HSC-3 cells.@*Results@#A total of 243 targets of RES drugs and 6 094 targets of OSCC were identified. A total of 116 potential common targets were obtained by intersecting drugs with disease targets. These potential targets mainly participate in biological processes such as in vivo protein self-phosphorylation, peptide tyrosine phosphorylation, transmembrane receptor protein tyrosine kinase signaling pathway, and positive regulation of RNA polymerase Ⅱ promoter transcription, and they interfere with the PI3K/AKT signaling pathway to exert anti-OSCC effects. The docking results of resveratrol with OSCC molecules indicated that key targets, such as EGFR, ESR1, and SRC, have good binding activity. The results of cell-based experiments showed that resveratrol inhibited the protein expression of SRC, EGFR, ESR1, p-PI3K, and p-AKT in HSC-3 cells in a dose-dependent manner.@*Conclusion@#RES can inhibit the expression of its targets EGFR, ESR1, SRC, p-PI3K, and p-AKT in OSCC cells.
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We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.
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A case of familial hypocalciuric hypercalcemia type 1 (FHH1) was reported detailing the course of diagnosis and treatment. The main clinical manifestations of the patient were recurrent pancreatitis with moderate hypercalcemia and low urinary calcium. The C→T heterozygous missense mutation at nucleotide 2 393 with conversion of codon Pro798 to Leu (p.P155L) in CaSR gene was identified. Serum calcium and parathyroid hormone levels of the patient were decreased significantly after treatment with cinacalcet.
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The high diversity of T cell receptors (TCRs) is the basis for recognizing antigens, playing an essential role in adaptive immunity. TCR diversity is generated from V(D)J rearrangement during the thymocyte development in the thymus. Standing out from the four TCR genes, Tcra and Tcrd genes are characterized by locating at the same locus and sharing specific V genes. Hence, their rearrangement and regulation have a certain particularity. Previous studies mainly focused on cis-regulatory elements and trans-acting factors regulating the Tcra/ Tcrd rearrangement. However, recent progress has shown that chromatin spatial organization plays an essential role in antigen receptor gene rearrangement. Chromatin organization proteins, such as CTCF-Cohesin, are involved in regulating rearrangement and enhancing the diversity of TCR repertoire by loop extrusion. Recombinase RAG also scans chromatin of antigen receptor genes for rearrangement. This review described the progress in the rearrangement of Tcra and Tcrd genes and the possible regulatory mechanism, especially the influence of the chromatin spatial organization.
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Abstract The growth hormone receptor (GHR) mediates the effect of growth hormone (GH) on linear growth and metabolism. In humans, it exists as two isoforms differing by the retention or exclusion of exon 3; a full-length GHR isoform (GHRfl) and the exon 3-deleted isoform (GHRd3). The genotypic frequency of this polymorphism was analyzed in several studies and in different human populations. However scarce information in Argentinean population is available. Associations between GHRd3 and growth have been reported previously. Some studies have shown that the presence of GHRd3 polymorphism might be a potential variant that improves growth response to recombinant human GH (rhGH) therapy in patients born small for gestational age (SGA), among others. However, over the years the results have been controversial and inconclusive. Based on this, it would be proposed that variants at the genomic level are not completely reflected at the mRNA level. Our aim was to evaluate the genotypic frequencies (%) of the GHR gene polymorphism (GHRfl/GHRfl; GHRfl/GHRd3; GHRd3/GHRd3) in normal Argentinean population (n = 94) and SGA patients (n = 65), and the expression of these polymorphisms at mRNA level in the fetal side of placenta tissues was analyzed. In addition, their asso ciation with spontaneous postnatal catch-up growth in SGA patients was also evaluated. In this study, we show a significant increment of compensatory growth in small for gestational age children (SGA) associated to the presence of the GHRd3 allele polymorphism. In addition, the expression of GHR in healthy placentas revealed that no alternative splicing mechanism occurs.
Resumen El receptor de la hormona de creci miento (GHR) media la acción de la hormona de crecimiento (GH) en el crecimiento lineal y el metabolismo. En los seres humanos, existen dos isoformas que difieren en la retención (GHRfl) o exclusión del exón 3 (GHRd3). La frecuencia genotípica de este polimorfismo fue analizada en varios estudios y en diferentes poblaciones. Sin embargo, la información disponible en la población argentina es escasa. Se ha reportado anteriormente asociación entre el polimorfismo GHRd3 y el crecimiento. Varios estudios ha n demostrado que la presencia del polimorfismo GHRd3 podría mejorar, en pacientes nacidos pequeños para la edad gestacional, entre otros, la respuesta a la terapia con GH humana recombinante (rhGH). Sin embargo, a lo largo de los años los resultados han sido con trovertidos y no concluyentes. En base a esto, se propondría que las variantes a nivel genómico no se reflejan completamente a nivel del ARNm. Nuestro objetivo fue evaluar la frecuencia genotípica de los polimorfismos del gen del GHR (GHRfl/GHRfl; GHRfl/GHRd3; GHRd3/GHRd3) en la población argentina normal (n = 94) y en niños pequeños para la edad gestacional (n = 65), y se analizó la expresión de estos polimorfismos a nivel de ARNm en la porción fetal de placentas sanas. Además, se evaluó la asociación de este polimorfismo con el cre cimiento postnatal espontáneo en pacientes pequeños para la edad gestacional. En este estudio, mostramos un incremento significativo del crecimiento compensatorio en niños pequeños para la edad gestacional asociado a la presencia del polimorfismo del alelo GHRd3. Además, los ensayos de expresión de GHR en placentas sanas revelaron que no se produciría ningún mecanismo de splicing alternativo.
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Humans , Female , Pregnancy , Child , Receptors, Somatotropin/genetics , Human Growth Hormone , Polymorphism, Genetic , Carrier Proteins , Exons , Gestational AgeABSTRACT
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.
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Androgen insensitivity syndrome (AIS), also known as testicular feminization, an X-linked recessive disorder comprises a wide range of phenotypes that are caused by various types of mutations in the androgen receptor gene. AIs can be classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. We report this case as an interesting and rare syndrome. The patient is a 15-year-old phenotypic female who presented with primary amenorrhea and normal-appearing external genitalia. Orchidectomy was done after proper counselling and proper psychological support was given to her.
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@#[Abstract] Objective: To develop a new type of CD7 chimeric antigen receptor modified T cell (CD7-CAR-T) for the treatment of CD7 positive acute myeloid leukemia (AML), and to observe its killing effect on CD7 positive AML cells. Methods: The CD7-CAR lentiviral vector was constructed based on the CD7 Nanobody sequence and costimulatory domain sequence of CD28 and 4-1BB. The lentiviral particles were packaged and used to co-transfect human T cells with protein expression blocker (PEBL), so as to prepare CD7- CAR-T cells. Real time cellular analysis (RTCA) was used to monitor the cytotoxicity of CD7-CAR-T cells on CD7 overexpressed 293T cells. Flow cytometry assay was used to detect the effect of CD7-CAR-T cells on proliferation and cytokine secretion of AML cells with high, medium and low CD7 expressions (KG-1, HEL and Kasumi-1 cells, respectively). Results: CD7-CAR-T cell was successfully constructed and its surface expression of CD7 was successfully blocked. Compared with T cells, CD7-CAR-T cells could significantly inhibit the proliferation of CD7-293T cells and promote the release of TNF, Granzyme B and INF-γ; in addition, CD7-CAR-T cells also significantly promoted the apoptosis (t=147.1, P<0.01; t=23.57, P<0.01) and cytokine release (P<0.05 or P<0.01) in CD7 positive KG-1 and HEL cells, but had little effect on Kasumi-1 cells that only expressed minimal CD7 antigen (t=0.7058, P>0.05). Conclusion: CD7-CAR-T cells can specifically kill CD7-positive AML cells in vitro.
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Depression, a chronic syndrome with low mood, pessimism, cognitive and sleep disorders, is characterized by high incidence, high suicide rate, low consultation and treatment rate. 40%-50% of the risk of depression comes from genes, so studying on gene abnormalities serves as an important part of the research in the internal causes of depression, among which the receptor gene abnormalities are crucial factors. The study of potential receptor gene loci is expected to be new target for the treatment of depression in the future, which can provide theoretical basis for the early diagnosis, prevention and treatment of depression.
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The aim of this study was to investigate the association of serum vitamin D, IL-4 levels and vitamin D receptor gene polymorphism in coronary artery disease with and without type 2 diabetes mellitus. Methods: The study was conducted in Department of Medicine and Department of Biochemistry, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi. It involved two groups of patients suffering from CAD with type 2 diabetes mellitus (n =40) and CAD without type 2 diabetes mellitus (n =40). Blood sample was collected from all subjects using all aseptic precautions. The levels of serum 25-hydroxy Vitamin D were measured by Electrochemiluminescence Immunoassay. Expected normal serum values considered was 14-80ng/ml. Serum IL-4 had been measured by using commercially available ELISA kit provided by GEN- PROBE Diaclone, France. Expected normal serum value considered was < 98pg/ml. Results: The mean age of patients in different study groups were CAD with DM, 59.15± 9.31 years and CAD without DM, 58.1±9.51 years. Mean vitamin D levels were 18.6±8.3 ng/ml in CAD with DM and 23.4±9 ng/ml in CAD without DM. Mean IL-4 levels were 1.31±0.27pg/ml in CAD with DM group, 1.21±0.29pg/ml in CAD without DM group. The FF genotype of vitamin D receptor gene was present in 47.5 % of CAD with DM patients and 35 % of CAD without DM patients. The Ff genotype was present in 37.5 % of CAD with DM patients and 52.5 % of CAD without DM patients. The ff genotype was reported in 15 % of CAD with DM patients and 12.5 % of CAD without DM patients. Allele F of Vitamin D receptor gene constituted 66 % of total gene pool in CAD with DM patients and 61 % in CAD without DM patients. No significant association was observed with respect to the VDR FokI genotypes and cardiovascular outcomes. Conclusion: Serum Vitamin D levels were decreased in both groups of patients, more significantly decreased in the presence of DM in CAD patients. Serum IL-4 levels were significantly higher in CAD with DM group as compared to CAD without DM group. No associations could be found between Vitamin D receptor gene FokI polymorphism and risk of CAD in diabetic and non-diabetic individuals. No significant correlation was found between vitamin D and IL-4 levels in the patients of both groups. The association between VDR FokI polymorphism, vitamin D and inflammatory markers needs to be further explored in diabetic CAD patients.
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Background & objectives: There is a paucity of information on association between dental fluorosis, osteoporosis and periodontitis. The aim of this pilot study was to evaluate oestrogen receptor (ER) Rsa 1 gene polymorphism in osteoporosis periodontitis patients with and without dental fluorosis. Methods: Twenty one primary osteoporotic patients suffering from periodontitis with dental fluorosis and 20 primary osteoporotic patients suffering from periodontitis without dental fluorosis participated in this study. Periodontitis was diagnosed based on age, gender T-scores using clinical parameters such as plaque scores, gingival bleeding scores and probing pocket depth, clinical attachment level (CAL) and severity of dental fluorosis. DNA was genotyped at the RsaI RFLP (in exon 5) inside the ER gene to study ER Rsa I gene polymorphism in osteoporosis periodontitis patients with and without dental fluorosis. Results: Patients with dental fluorosis had higher degree of osteoporosis than those without fluorosis. CAL was significantly higher (P <0.05) in those with dental fluorosis compared with those without. Rr heterozygote (21.95%) was observed in patients without fluorosis whereas RR mutant homozygote was absent in both the groups. Rr wild homozygote type was seen more in the patients with fluorosis (51.21%). Significant differences were found in distribution of these genotypes between patients with and without dental fluorosis. Interpretation & conclusions: This preliminary study showed the presence of ER I gene polymorphism in osteoporosis periodontitis patients without dental fluorosis. Further studies with large sample size are needed to confirm the association shown in this preliminary study.
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Objective To investigate the interaction between rs1800955 polymorphism of dopamine D4 receptor(DRD4) gene and negative life events on personality characteristics of Mongolian adolescents.Methods A total of 239 Mongolian adolescents aged 12-15 were assessed with Eysenck Personality Questionnaire(EPQ) and Adolescent Self-Rating Life Events Check List(ASLEC).The polymorphism of DRD4 gene rs1800955 was determined by improved multiple ligase detection reaction(iMLDR) technique.Results (1) The rs1800955 polymorphism of DRD4 gene was significantly correlated with psychoticism score of EPQ.The psychoticism score of individuals with CC genotype (4.94 ± 3.19) was higher than that of TT genotype (3.38±2.29),and the difference was statistically significant (P＜0.05).(2) The scores of psychoticism and neuroticism in Mongolian adolescents were positively correlated with the factors of negative life events(r=0.154-0.375,P＜0.05 or 0.01).(3) The interaction between the rs1800955 polymorphism of DRD4 gene and negative life events significantly affected the scores of psychoticism in Mongolian adolescents (C C genotype x interpersonal factor:B =-2.689,95 ％ CI =-4.589--0.789,x2 =7.695,P＜ 0.01).In individuals with CC genotype,the scores of psychoticism in those with high scores of interpersonal relatioriship factors were significantly higher than those with low scores of interpersonal relationship factors ((3.01 ± 0.71) vs (2.61 ±0.67);t =-3.066,P＜ 0.01).Conclusion The polymorphism of DRD4 gene rs 1800955 and its association with interpersonal factors play an important role in the psychoticism of Mongolian adolescents.The CC genotype is a risk factor of psychoticism,and the poor interpersonal relationship may increase the risk of individuals with CC genotype.
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Objective:To investigate the effect of knockdown of EphB1 gene on the oxidative damage of cardiomyocytes (H9c2) induced by hydrogen peroxide (H2O2) in the rats, and to provide the evidence for EphB1 gene in the treatment of cardiovascular diseases. Methods:The rat cardiomyocytes H9c2 were cultivated in vitro and divided into blank group (no treatment), H2O2 group (H2O2-induced cell damage), negative control group (transfected with siRNA control) and si-EphB1 transfection group (transfected with si-EphB1 after H2O2-induced cell damage). The expression levels of EphB1 mRNA in the H9c2 cells in various groups were detected by fluorescence quantitative real-time polymerase chain reaction (qRT-PCR), the survival rates of the H9c2 cells in various groups were tested by MTT assay, the apoptosis of H9c2 cells were measured by flow cytometry, the ROS levels in the H9c2 cells in various groups were determined by DCFH-DA, and the levels of MDA and SOD in the H9c2 cells in various groups were determined by spectrophotometer. Results:Compared with blank group, the expression level of EphB1 mRNA in the H9c2 cells in H2O2 group were significantly increased(P0.05); compared with H2O2 group,the expression level of EphB1 mRNA in the H9c2 cells in si-EphB1 transfection group was significantly decreased(P0.05).Compared with H2O2 group, the survival rate of H9c2 cells in si-EphB1 transfection group was increased(P<0.05), the apoptotic rate was decreased(P<0.05), the ROS and MDA levels were decreased(P<0.05), and the SOD level was increased(P<0.05). Conclusion:Knockdown of EphB1 gene can significantly inhibit the H2O2-induced oxidative damage of the rat cardiomyocytes and protect against myocardial injury; its mechanism is related to improving the survival rate of cardiomyocytes, inhibiting the apoptosis, improving the antioxidant enzyme activity, and increasing the scavenging abilities of oxidative stress products in the cells.
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Objective To investigate the relationship between single nucleotide polymorphism of vitamin D receptor (VDR) genes and osteoporosis in Chinese Northern Han patients with chronic obstructive pulmonary disease (COPD). Methods Patients with acute exacerbation COPD were enrolled and divided into osteoporosis and non-osteoporosis groups. Genomic DNA was extracted from peripheral blood of the subjects. UCSC genome browser and haploview 4.2 software were used to screen the tag single nucleotide polymorphism (tagSNPs) of VDR gene. The selected tagSNPs of VDR gene were genotyped by Sequenom MassARRAY SNP platform. Logistic regression was used to analyze the OR values and confidence intervals (CI) of each tagSNP in the codominant, dominant and recessive genetic models, and assess the relationship between single nucleotide polymorphisms in VDR gene and osteoporosis in COPD patients. Results A total of 379 COPD patients were enrolled. The group of osteoporosis and non-osteoporosis differed significantly in gender, age, alcohol assumption, peripheral platelet counts, serum phosphorus and serum creatinine levels (P<0.05). Finally, 17 tagSNPs of VDR gene (rs2238140 G/A, rs2228570 G/A, rs2408877 A/T, rs12721370 C/A, rs7299460 T/C, rs2239184 G/A, rs2239186 A/G, rs7136534 C/T, rs12721364 G/A, rs2853561 C/T, rs7965943 T/G, rs11168287 G/A, rs11608702 T/A, rs2239179 T/C, rs2189480 T/G, rs59707231 T/A, rs2853559 C/T) were filtered out for association analysis. Patients of rs2853561 carrying T/C and T/T genotypes had a lower risk of developing osteoporosis than those carrying C/C genotype in COPD patients (in dominant mode: T/C+T/T vs. C/C, OR=0.34, 95%CI 0.18-0.63, P=0.0003539) with statistical significance. Conclusions The present study has revealed significant relationship between rs2853561 of VDR gene and osteoporosis in patients with COPD. Further studies are needed to discover the mechanism of VDR gene polymorphism in the pathogenesis of osteoporosis in COPD.
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Objective@#To investigate the distribution of polymorphisms of glucagon-like peptide-1 receptor gene (GLP-1R) rs10305420 and rs3765467 in Chinese Han type 2 diabetic patients, and the effects on body weight, blood glucose and serum lipid levels.@*Methods@#Two SNPs of GLP-1R rs3765467 and rs10305420 were genotyped by Sanger dideoxy termination sequencing method. The racial difference and the association between the gene polymorphisms and the metabolic markers including BMI, serum lipids and blood glucose were analyzed.@*Results@#The distribution of gene polymorphisms was consistent with the Hardy-Weinberg equilibrium. High-density lipoprotein (HDL-C) levels were significantly lower in the rs10305420 T allele carriers than in the CC genotype (1.00±0.18 vs 1.09±0.22, P=0.02). The triglyceride (TG) level of the rs3765467 A allele carrier was higher than that of the GG type (2.75±2.19 vs 2.07±1.36, P=0.03). The allele frequency of rs10305420 C/T was highly statistically significant compared with European population (P=0.000 3). The allele frequency of rs3765467 G/A was statistically different from that of European and African populations (P<0.01).@*Conclusions@#The two genetic polymorphisms were significantly associated with lipid levels in patients with type 2 diabetes, and there was a significant racial difference in the frequency distribution of the two variants.
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The Vitamin D receptor (VDR) gene encodes the VDR protein, which is essential for the effective realization of the physiological function of vitamin D. Low vitamin D levels in children and adolescents increase the risk of obesity, insulin resistance, high blood pressure or dyslipidemia.However, the mechanisms are still unclear.It was found that VDR gene single nucleotide polymorphisms (SNP), especially BsmI, affect the level of vitamin D in children and adolescents.Some common SNP, such as BsmI, ApaI, TaqI, Cdx2, are associated with the occurrence of obesity and metabolic syndrome(MS). However, these associations are not significant in some studies, especially in obese group or with rare SNP.This review focuses on the relationship between VDR gene polymorphisms and MS components in children and adolescents, in order to provide direction for early diagnosis and intervention of MS and even the necessity and effectiveness of vitamin D replacement therapy.
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OBJECTIVE： To investigate the correlation of 5-hydroxytryptamine 2A receptor （5-HT2AR） rs6313 gene polymorphism with pain occurrence and opioid requirements in patients with lung cancer. METHODS： Totally 332 patients with lung cancer were selected from the Affiliated Hospital of Xuzhou Medical University during Dec. 2017-Jun. 2018 as lung cancer group. They were divided into pain group （177 cases） and painless group （155 cases） according to whether pain occurred. Totally 116 healthy persons who underwent physical examination in same period were selected as control group. The genotype of rs6313 locus of 5-HT2AR gene was detected by PCR-RFLP. The distribution of genotype was compared by χ2-test. The correlation of genotype with pain occurrence and degree， opioids requirements were investigated by Binary Logistic regression analysis， χ2-test and Kruskal-Wallis test. RESULTS： CC， CT， TT genotypes were detected in rs6313 locus of 5-HT2AR gene. The frequency of above genotypes were 20.7％， 47.4％， 31.9％， 20.6％， 50.3％， 29.0％ as well as 16.4％， 50.8％， 32.8％， respectively in control group， painless group and pain group. Their frequencies and allele frequencies were in line with Hardy-Weinberg balance （P＞0.05）. There was no statistical significance in genotype and allele frequencies between lung cancer group and control group （P＞0.05）. TNM staging （Ⅲ-Ⅳ stage） was associated with pain in lung cancer patients [OR＝3.661， 95％CI （1.972，6.797）， P＜0.001]. Gender， age， height， body weight， pathological typing and rs6313 locus genotype had no correlation with pain （P＞0.05）. The genotype of this locus was not related to the degree of pain and the requirements for opioids in patients with lung cancer （P＞0.05）. CONCLUSIONS： The polymorphism of 5-HT2AR gene rs6313 locus is no related to pain occurrence and opioid requirements in patients with lung cancer. Its polymorphism may not be the main cause of individual pain differences in lung cancer patients.
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The Vitamin D receptor(VDR)gene encodes the VDR protein,which is essential for the effective realization of the physiological function of vitamin D. Low vitamin D levels in children and adolescents increase the risk of obesity,insulin resistance,high blood pressure or dyslipidemia. However,the mechanisms are still unclear. It was found that VDR gene single nucleotide polymorphisms(SNP),especially BsmI,affect the level of vitamin D in children and adolescents. Some common SNP,such as BsmI,ApaI,TaqI,Cdx2,are associated with the occurrence of obesity and metabolic syndrome(MS). However,these associations are not significant in some studies,especially in obese group or with rare SNP. This review focuses on the relationship between VDR gene polymorphisms and MS components in chil﹣dren and adolescents,in order to provide direction for early diagnosis and intervention of MS and even the necessity and effectiveness of vitamin D replacement therapy.
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Objective To explore the effect of epidermal growth factor receptor (EGFR) gene mutation on clinical pathology of non-small cell lung cancer (NSCLC) and clinical efficacy of tyrosine kinase inhibitor (TKI) treatment. Methods 460 NSCLC patients who were treated in our hospital from January 2017 to December 2017 were selected in this study. Based on types of mutations, they were divided into mutant positive group (129 cases) and mutant negative group (331 cases). The mutant positive group was further divided into TKI target treatment group (72 cases) and chemotherapy group (57 cases). All patients in the mutant negative group received chemotherapy (331 cases) treatment. Finally, the relationship between the EGFR gene mutation and clinical pathology was analyzed, and the progression-free survival (PFS) among groups of TKI therapy, chemotherapy of mutant positive group and chemotherapy of mutant negative group was compared. Results (1) It was found that the mutation of EGFR gene in NSCLC patients was closely related to the sex, smoking, pathological type, degree of differentiation, and serum carcinoembryonic antigen (CEA) level (P < 0.05). (2) The ORR and DCR in patients treated with TKI were significantly higher than those in other patients with positive gene mutation (P < 0.05). (3) The ORR and DCR in the EGFR mutant negative group were significantly higher than those in the EGFR mutant positive group (P < 0.05). (4) The PFS were significantly different among all groups (P<0.05) : (201.65±20.81) d in TKI group; (116.53 ± 11.61) d in chemotherapy of mutant positive group and (167.59 ± 11.46) d in mutant negative group. Conclusions The mutation of EGFR gene in NSCLC patients occurs more frequently in women, nonsmokers, adenocarcinoma, and those whose serum CEA ≥ 5 ng/mL.TKI therapy can effectively prolong the PFS in patients with EGFR positive mutation. However, it's more effective to use chemotherapy for patients without EGFR positive mutation.
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@#AIM: To develop the correlation of patients in age-related macular degeneration and TFR2 gene polymorphism in the Han people of northeast China.<p>METHODS: Totally 200 patients with ARMD(dry-ARMD 100 individuals and wet-ARMD 100 individuals)and 100 healthy control people were chosen as the experiment team and control team. Peripheral venous blood were collected and anticoagulated dealed with EDTA. Then we extraced genome DNA and amplificate rs2075674, which was the polymorphic locus of TFR2 gene according to the primer sequences provided by references, for polymerase chain reaction(PCR). The group representativeness of samples is identified according to hardy Weinberg equilibrium principle. <p>RESULTS: We found that the difference between ARMD group and control group in the polymorphism of TFR2 gene rs2075674 is statistically significant(χ<sup>2</sup>=6.494, <i>P</i>=0.011). There was significant difference between the wet ARMD group and control group(χ<sup>2</sup>=11.054, <i>P</i>=0.001). There had no significant differences when it comes to the dry ARMD group and the control group(χ<sup>2</sup>=1.418, <i>P</i>=0.234).<p>CONCLUSION: The above findings indicate that polymorphism of TFR2 gene increases the risk of ARMD in the Han population of Northeast China. It is concluded that rs2075674 is significantly correlated with wet-ARMD.