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Metabolic enzyme gene polymorphisms predict the effects of antioxidant treatment on idiopathic male infertility

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Asian Journal of Andrology 2022年第4期24卷 430-435页

作者： Hong-Yan Zhang Yi Mu Pan Chen Dong-Dong Liu Ke-Hang Chen Qi Yu Jun He Fa Sun Jun-Ping Xing Kai-Fa Tang Department of Respiratory Medicine The Affiliated Hospital of Guizhou Medical UniversityGuiyang 550004China Department of Urology The Affiliated Hospital of Guizhou Medical UniversityGuiyang 550004China Department of Urology The Sixth's Hospital of Guiyang of Guizhou ProvinceGuiyang 550005China Department of Urology People's Hospital of Guizhou ProvinceGuiyang 550002China Department of Urology The First Affiliated Hospital of Medical College of Xi'an Jiaotong UniversityXi'an 710061China Institute of Medical Science of Guizhou Medical University Guiyang 550004China

To explore the relationship between genetic polymorphisms of metabolic enzymes such as CYP1A1,CYP2D6,GSTM1,GSTT1,and GSTP1 and idiopathic male infertility.By observing the efficacy of antioxidants in the treatment of idiopathic male infertility,the effect of metabolic enzyme gene polymorphisms on antioxidant therapy in patients with idiopathic male infertility was prospectively studied.This case-control study included 310 men with idiopathic infertility and 170 healthy controls.The cytochrome P4501A1(CYP1A1),cytochrome P4502D6(CYP2D6),glutathione S-transferase M1(GSTM1),glutathione S-transferase T1(GSTT1),and glutathione S-transferase P1(GSTP1)genotypes in peripheral blood samples were analyzed by polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP).The idiopathic male infertility group was treated with vitamin C,vitamin E,and coenzyme Q10 for 3 months and followed up for 6 months.GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)in the idiopathic male infertility groups were more common than those in the control group.The sperm concentration,motility,viability,mitochondrial membrane potential(MMP),and seminal plasma total antioxidant capacity(T-AOC)level in patients with GSTM1(-),GSTT1(-),and GSTM1/T1(-/-)were lower than those in wild-type carriers,and the sperm DNA fragmentation index(DFI),8-hydroxy-2'-deoxyguanosine(8-OH-dG),and malondialdehyde(MDA)and nitric oxide(NO)levels were higher.Therefore,oxidative damage may play an important role in the occurrence and development of idiopathic male infertility,but antioxidant therapy is not effective in male infertility patients with GSTM1 and GSTT1 gene deletions.

关键词： gene infertility metabolic enzyme oxidative stress polymorphisms

Correlation between Toll-like Receptor Gene polymorphisms and Idiopathic Nephrotic Syndrome in Chinese Children

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当代医学科学(英文) 2023年第3期43卷 585-591页

作者： Hui-hui GAO Wei LI Xin-yi SHOU Jian-hua MAO Department of Pediatric and Adolescent Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China Department of Clinical Laboratory Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China Department of Nephrology Children's HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China

Objective Idiopathic nephrotic syndrome(INS)is the most common glomerular disease in children.Toll-like receptors(TLRs)have been reported to be associated with response to steroid treatment in children with INS.Nevertheless,the correlation between TLR genes and the progression of INS has not yet been clarified.The present study aimed to investigate the association of single-nucleotide polymorphisms(SNPs)in TLR2,TLR4,and TLR9 with susceptibility to INS as well as the clinical phenotyping of steroid responsiveness in Chinese children with INS.Methods A total of 183 pediatric inpatients with INS were included and given standard steroid therapy.Based on their clinical response to steroids,the patients were classified into three groups:steroid-sensitive nephrotic syndrome(SSNS),steroid-dependent nephrotic syndrome(SDNS),and steroid-resistant nephrotic syndrome(SRNS).A total of 100 healthy children were employed as controls.The blood genome DNA was extracted from each participant.Six SNPs(rs11536889,rs1927914,rs7869402,rs11536891,rs352140,and rs3804099)in TLR2,TLR4,and TLR9 were selected and detected by multiplex polymerase chain reaction with next-generation sequencing to assess TLR gene polymorphisms.Results Among the 183 patients with INS,89(48.6%)had SSNS,73(39.9%)had SDNS,and 21(11.5%)had SRNS.No significant difference was found in the genotype distribution between healthy children and patients with INS.However,the genotype and allele frequencies of TLR4 rs7869402 were significantly different between SRNS and SSNS.Compared with patients with the C allele and CC genotype,patients with the T allele and CT genotype had an increased risk of SRNS.Conclusion TLR4 rs7869402 affected the steroid response in Chinese children with INS.It might be a predictor for the early detection of SRNS in this population.

关键词： children idiopathic nephrotic syndrome polymorphisms Toll-like receptor genes steroid resistance

polymorphisms of MTHFR and susceptibility to oesophageal adenocarcinoma in a Caucasian United Kingdom population

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World Journal of Gastroenterology 2014年第34期20卷 12212-12216页

作者： Richard Keld Manyi Thian Chia Hau Jamil Sajid Narveen Kumar Yeng Ang Department of Gastroenterology Royal Albert Edward InfirmaryWiganLancashire WN1 2NNUnited Kingdom Faculty of Human and Medical Sciences University of ManchesterManchesterSalford M6 8HDUnited Kingdom

AIM:To identify if methylene tetra-hydrofolatereductase(MTHFR)C677T polymorphisms are associated with oesophageal adenocarcnomas in a Caucasian population and to test whether folic acid and homocysteine levels are linked with cancer risk.METHODS:A case control study comprising of 58 non cancer and 48 cancer patients,MTHFR C667T genotyping was made and serum folate,homocysteine and vitamin B12 levels were made.Tumour stage,differentiation and survival was recorded.A P value of less than0.05 was taken to be significant.Theχ2 used to compare discrete variables and the Mantel-Cox was used to compare survival.A P value less than 0.05 was deemed to be significant.RESULTS:MTHFR polymorphisms is associated with an increased risk of several cancers.A link between MTHFR C677T polymorphisms and oesophageal squamous cell carcinoma and gastric cardia adenocarcinoma has been demonstrated in at risk Chinese populations.In a Western European population the role of the MTHFR gene has not previously been investigated in the setting of oesophageal adenocarcinoma.No association between folic acid levels and cancer patients was found.The unstable MTHFR 667 TT genotype occurred in 11%cancers and 7%controls,but statistical significance was not reached,homocysteine levels and folic acid levels were not affected,cancer patients with TT genotype displayed a trend for a shorter survival 7 mo vs 20 mo.Serum vitamin B12 levels were higher in the cancer group.The MTHFR 667 TT genotype is much lower than previous population studies.CONCLUSION:We conclude that serum folic acid and MTHFR polymorphisms are not associated with an increased risk of oesophageal adenocarcinoma,although cancers with unstable TT genotype may indicate a more aggressive disease course.

关键词： polymorphisms of 5,10-methylenetetrahydrofolate re

CASC15 Gene polymorphisms and Glioma Susceptibility in Chinese Children

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Current Medical Science 2022年第4期42卷 797-802页

作者： Hui-ran LIN Yong-ping CHEN Hui-tong CHEN Xiao-ping LIU Jing-ying ZHOU Xiao-kai HUANG Li YUAN Zhen-jian ZHUO Faculty of Medicine Macao University of Science and TechnologyMacao 999078China Department of Pediatric Surgery Guangzhou Institute of PediatricsGuangdong Provincial Key Laboratory of Research in Structural Birth Defect DiseaseGuangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Hematology Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China Department of Hematology the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical UniversityWenzhou 325027China Department of Pathology Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangzhou 510623China

Objective:Gliomas are the most common tumors in the central nervous system.The cancer susceptibility candidate 15(CASC15)gene has been reported to be a susceptibility gene for several types of cancer.No studies have been carried out on the predisposing effect of CASC15 gene single nucleotide polymorphisms(SNPs)on glioma risk.Methods:In order to determine whether CASC15 gene SNPs are involved in glioma susceptibility,the first association study in a relatively large sample,which consisted of 171 patients and 228 healthy controls recruited from China,was performed.The contribution of SNPs(rs6939340 A>G,rs4712653 T>C and rs9295536 C>A)to the risk of glioma was evaluated by multinomial logistic regression,based on the calculation of the odds ratio(OR)and 95%confidence interval(CI).Results:In the single locus and combined analysis,it was revealed that the genetic risk score had no significant associations between CASC15 gene SNPs and glioma risk.However,in the stratified analysis,a significant decrease in risk of glioma was observed in subjects of<60 months old with the rs4712653 TT genotype,when compared to those with the CC/CT genotype(OR=0.12,95%CI=0.02-0.91,P=0.041).Conclusion:The present study provides referential evidence on the association between the genetic predisposition of the CASC15 gene and glioma risk in Chinese children.However,more well-designed case-control studies and functional experiments are needed to further explore the role of CASC15 gene SNPs.

关键词： cancer susceptibility candidate 15 polymorphisms glioma susceptibility Chinese

LAMC1, LAMA2 and LAMA3 gene polymorphisms and the risk for severe pelvic organ prolapse

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Science Bulletin 2019年第7期64卷 466-468页

作者： Lei Li Jia Kang Ye Zhang Meng Mao Yuxiang Yang Jinghe Lang Zhijing Sun Juan Chen Lan Zhu Department of Obstetrics and Gynecology Peking Union Medical College Hospital Chinese Academy of Medical Sciences & Peking Union Medical College

Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of symptomatic POP in China is 9.56%according to a cross-sectional study involving 54,000 adult women in six provinces in the mainland of China (unpublished data). The etiology of this disorder is multifactorial, including race, age, body mass index(BMI), parity and menopause (1)The loss of the integrity of vaginal connective tissue has been demonstrated to weaken the pelvic floor support and promote the development of POP.

关键词： POP LAMA2 and LAMA3 gene polymorphisms and the risk for severe pelvic organ prolapse LAMC1

Effect of the interleukin 10 polymorphisms on interleukin 10 production and visceral hypersensitivity in Chinese patients with diarrhea-predominant irritable bowel syndrome

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Chinese Medical Journal 2019年第13期132卷 1524-1532页

作者： Shi-Wei Zhu Zuo-Jing Liu Qing-Hua Sun Li-Ping Duan Department of Gastroenterology Peking University Third HospitalBeijing 100191China

Background:Irritable bowel syndrome (IBS),a functional gastrointestinal disorder,is characterized by cytokine imbalance.Previously,decreased plasma interleukin 10 (IL-10) level was reported in patients with IBS,which may be due to genetic polymorphisms.However,there are no reports correlating the IL-10 polymorphisms with IL-10 production in patients with IBS.This study aimed to analyze the effect of IL-10 polymorphisms on IL-10 production and its correlation with the clinical symptoms in Chinese patients with diarrhea-predominant IBS (IBS-D).Methods:Two IL-10 single nucleotide polymorphisms (rs1800871 and rs1800896) were detected in 120 patients with IBS-D and 144 healthy controls (HC) using SNaPshot.IBS symptom severity score,Bristol scale,hospital anxiety,and depressive scale (HADS) were used to evaluate the clinical symptoms,as well as the psychological status and visceral sensitivity of the subjects.IL-10 levels in the plasma and peripheral blood mononuclear cell (PBMC) culture supernatant were measured using enzyme-linked immunosorbent assay,while those in ileal and colonic mucosal biopsies were measured using immunohistochemistry.Results:The frequency of rs1800896 C allele was significantly lower in the patients with IBS-D than that in the HC (odds ratio:0.49,95% confidence interval:0.27-0.92,P =0.0240).The IL-10 levels in the plasma (P =0.0030) and PBMC culture supernatant (P =0.0500) of the CT genotype subjects were significantly higher than those in the TT genotype subjects.The CT genotype subjects exhibited a higher pain threshold in the rectal distention test than the TT genotype subjects.Moreover,IL-10 rs1800871 GG genotype subjects showed an increase in the HADS score compared to other genotype subjects.Conclusions:IL-10 rs1800896 C allele is correlated with higher IL-10 levels in the plasma and the PBMC culture supernatant,which is associated with a higher pain threshold in the Chinese patients with IBS-D.This study provides an explicit relationship of IL-10 polymorphisms with IL-10 production,which

关键词： Irritable bowel syndrome Interleukin 10 polymorphisms Visceral hypersensitivity Depression

Association of candidate gene polymorphisms with diabetic retinopathy in Chinese patients with type 2 diabetes

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International Journal of Ophthalmology(English edition) 2020年第2期13卷 301-308页

作者： Wen-Ying Fan Hong Gu Xiu-Fen Yang Chong-Yang She Xi-Pu Liu Ning-Pu Liu Beijing Tongren Eye Center Beijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology and Visual Sciences Key LaboratoryBeijing 100730China Department of Ophthalmology Lihuili HospitalNingbo 315010Zhejiang ProvinceChina Department of Ophthalmology Friendship HospitalCapital Medical UniversityBeijing 100050China Department of Ophthalmology Beijing Chao-Yang HospitalCapital Medical UniversityBeijing 100020China Sekwa Eye Hospital Sekwa Institute of MedicineBeijing 100035China

●AIM:To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy(DR)in an urban community cohort of Chinese patients with type 2 diabetes mellitus(T2 DM).●METHODS:A population-based cross-sectional study.The diabetic subjects were recruited from an urban community in Beijing and categorized into groups of proliferative diabetic retinopathy(PDR),non-proliferative diabetic retinopathy(NPDR),or diabetic without any retinopathy(DWR)based on the fundus photography and duration of diabetes.Six candidate genes,including advanced glycation end product specific receptor(AGER),aldose reductase(AKR1 B1),inducible nitric oxide synthase(i NOS),pigment epithelium derived factor(PEDF),tumor necrosis factor-alpha(TNF-α),and paraoxonase 1(PON1),were chosen based on Meta-analysis of genetic association studies for DR and biochemical pathways implicated in DR progression.The allele and genotype distribution of 21 functional singlenucleotide polymorphisms(SNPs)in those 6 candidate genes were investigated using MassARRAY genotyping system.●RESULTS:Among 1461 diabetic patients recruited from community,569 were selected in following genotyping analysis,including 97 patients with PDR,217 with NPDR,and 255 with DWR.For the promoter variant rs1051993 in AGER gene,the distribution of allele and genotype in PDR group differed from that in DWR group(allele:P=0.011;genotype:P=0.01).Compared with DWR,patients with PDR had lower frequencies of heterozygous genotype GT(9.8%for DWR,1%for PDR,OR:0.10,95%CI:0.01-0.72)and minor allele T(4.9%for DWR,0.5%for PDR,OR:0.10,95%CI:0.01-0.75).In multivariate model,the distribution of genotype for rs1051993 in PDR group was significantly different from that in DWR group(GT vs GG:OR:0.07,95%CI:0.01-0.61,P<0.001).No association with DR was observed in other genotyped SNPs.●CONCLUSION:The data suggest a significant association of the promoter variant rs1051993 in AGER gene with PDR in Chinese cohort with T2DM.

关键词： polymorphisms diabetic retinopathy AGER AKR1B1 iNOS PEDF TNF-α PON1

GPA: A Microbial Genetic polymorphisms Assignments Tool in Metagenomic Analysis by Bayesian Estimation

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Genomics, Proteomics & Bioinformatics 2019年第1期17卷 106-117页

作者： Jiarui Li Pengcheng Du Adam Yongxin Ye Yuanyuan Zhang Chuan Song Hui Zeng Chen Chen Beijing Key Laboratory of Emerging Infectious Diseases Institute of Infectious Diseases Beijing Ditan Hospital Capital Medical University Center for Bioinformatics State Key Laboratory of Protein and Plant Gene Research School of Life Sciences Peking University

Identifying antimicrobial resistant(AMR) bacteria in metagenomics samples is essential for public health and food safety. Next-generation sequencing(NGS) technology has provided a powerful tool in identifying the genetic variation and constructing the correlations between genotype and phenotype in humans and other species. However, for complex bacterial samples, there lacks a powerful bioinformatic tool to identify genetic polymorphisms or copy number variations(CNVs) for given genes. Here we provide a Bayesian framework for genotype estimation for mixtures of multiple bacteria, named as Genetic polymorphisms Assignments(GPA). Simulation results showed that GPA has reduced the false discovery rate(FDR) and mean absolute error(MAE) in CNV and single nucleotide variant(SNV) identification. This framework was validated by whole-genome sequencing and Pool-seq data from Klebsiella pneumoniae with multiple bacteria mixture models, and showed the high accuracy in the allele fraction detections of CNVs and SNVs in AMR genes between two populations. The quantitative study on the changes of AMR genes fraction between two samples showed a good consistency with the AMR pattern observed in the individual strains. Also, the framework together with the genome annotation and population comparison tools has been integrated into an application, which could provide a complete solution for AMR gene identification and quantification in unculturable clinical samples. The GPA package is available at https://***/IID-DTH/GPA-package.

关键词： Next-generation sequencing Pool-seq Bayesian model Metagenomics Genetic polymorphisms

The influence of genetic polymorphisms in drug metabolism enzymes and transporters on the pharmacokinetics of different fluvastatin formulations

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Asian Journal of Pharmaceutical Sciences 2020年第2期15卷 264-272页

作者： Qian Xiang Weidang Wu Nan Zhao Chuan Li Junyu Xu Lingyue Ma Xiaodan Zhang Qiufen Xie Zhuo Zhang Jiancheng Wang Weiren Xu Xia Zhao Yimin Cui Department of Pharmacy Peking University First HospitalBeijing 100034China State Key Laboratory of Drug Release Technology and Pharmacokinetics Tianjin Institute of Pharmaceutical ResearchTianjin 300193China School of Pharmaceutical Science Peking UniversityBeijing 100191China

The purpose of the present study was to investigate the impact of genetic polymorphism on fluvastatin pharmacokinetics.In addition,we compared the fluvastatin pharmacokinetics differences between extended-release(ER)80 mg tablet and immediate-release(IR)40 mg capsule in terms of drug metabolism enzyme and transporter genetic polymorphisms.In this open-label,randomized,two-period,two-treatment,crossover study(n=24),effects of ABCG2,SLCO1B1,ABCB1,CYP2C9 and CYP3A5 polymorphisms on the pharmacokinetics of fluvastatin were analyzed.The administration dosage for IR 40 mg and ER 80 mg were twice and once daily,respectively,for total 7 d.Blood samples for pharmacokinetic evaluation were taken on the 1st and 7th d.The lower exposure following ER was observed.For ER tablets,SLCO1B1 T521C genotype correlated with AUC 0-24 of repeat doses(P=0.010).SLCO1B1 T521C genotype had no statistically significant effect on AUC 0-24 of IR capsule of fluvastatin after single or repeated doses.In vitro study demonstrated that when the concentration of fluvastatin was low(1μmol/l),transport velocity of fluvastatin by HEK293-OATP1B1 with SLCO1B1521TT(K m=11.4μmol/l)and with SLCO1B1521TCC(K m=15.1μmol/l)tend to be the same.It suggests that the increased effect of SLCO1B1 T521C genotype on ER formulation of fluvastatin was mainly caused by lower blood concentrations.We recommend that formulation should be incorporated into future pharmacogenomics studies.

关键词： Genetic polymorphisms SLCO1B1 Fluvastatin Immediate-release Extended-release