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The role of natriuretic peptide precursor A gene polymorphism in the development of coronary heart disease

Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,

《医学前沿（英文）》 2009年 第3卷 第4期   页码 437-442 doi: 10.1007/s11684-009-0074-x

摘要： Natriuretic peptide precursor A (NPPA) is synthesized, stored, and released by atrial myocytes. Previous studies have shown that NPPA plays a significant role in the regulation of coronary circulation and in atherosclerosis. Rs5065 NPPA gene polymorphism leads to the translation of NPPA with two additional arginines and has been suggested to be associated with salt-sensitive hypertension. The purpose of the present study was to investigate the relationship between the rs5065 NPPA gene polymorphism and the risk of coronary heart disease (CHD) in Chinese Han population. We genotyped the single nucleotide polymorphism (SNP) rs5065 NPPA in the human NPPA gene in 1861 sex- and age-matched subjects, comprising of 904 CHD cases and 957 controls of Chinese Han population. Genotyping of SNP was performed with Taqman SNP allelic discrimination assays by means of an ABI 7900HT. Our study showed that the frequencies of rs5065 NPPA C allele in the case and the control groups were 0.012 and 0.005, respectively. There was significant difference in C allele frequency distribution between the two groups (OR=2.607, 95% CI: 1.197−5.678, =0.012). In the case group, there was significant difference between smokers and nonsmokers with subjects carrying C allele (=0.037), and no significant difference in gender, age, fasting total cholesterol (TC), triglycerides (TG), fasting plasma glucose (FPG), body mass index (BMI), and blood pressure (BP) between the cases and the controls (>0.05). Our results suggest that the C allele of rs5065 NPPA gene polymorphism may be associated with the risk of CHD.

关键词： natriuretic peptide precursor A     coronary heart disease     gene polymorphism     allelic discrimination     polymorphism     single nucleotide    

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FMO3--TMAO axis modulates the clinical outcome in chronic heart-failure patients with reduced ejection fraction: evidence from an Asian population

《医学前沿（英文）》 2022年 第16卷 第2期   页码 295-305 doi: 10.1007/s11684-021-0857-2

摘要： The association among plasma trimethylamine-N-oxide (TMAO), FMO3 polymorphisms, and chronic heart failure (CHF) remains to be elucidated. TMAO is a microbiota-dependent metabolite from dietary choline and carnitine. A prospective study was performed including 955 consecutively diagnosed CHF patients with reduced ejection fraction, with the longest follow-up of 7 years. The concentrations of plasma TMAO and its precursors, namely, choline and carnitine, were determined by liquid chromatography-mass spectrometry, and the FMO3 E158K polymorphisms (rs2266782) were genotyped. The top tertile of plasma TMAO was associated with a significant increment in hazard ratio (HR) for the composite outcome of cardiovascular death or heart transplantation (HR=1.47, 95% CI=1.13–1.91, P=0.004) compared with the lowest tertile. After adjustments of the potential confounders, higher TMAO could still be used to predict the risk of the primary endpoint (adjusted HR=1.33, 95% CI=1.01–1.74, P=0.039). This result was also obtained after further adjustment for carnitine (adjusted HR=1.33, 95% CI=1.01–1.74, P=0.039). The FMO3 rs2266782 polymorphism was associated with the plasma TMAO concentrations in our cohort, and lower TMAO levels were found in the AA-genotype. Thus, higher plasma TMAO levels indicated increased risk of the composite outcome of cardiovascular death or heart transplantation independent of potential confounders, and the FMO3 AA-genotype in rs2266782 was related to lower plasma TMAO levels.

关键词： chronic heart failure     trimethylamine-N-oxide     flavin monooxygenase 3     single nucleotide polymorphism    

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Microbial community structure in different wastewater treatment processes characterized by single-strandconformation polymorphism (SSCP) technique

ZHAO Yangguo, WANG Aijie, REN Nanqi, ZHAO Yan

《环境科学与工程前沿（英文）》 2008年 第2卷 第1期   页码 116-121 doi: 10.1007/s11783-008-0018-8

摘要： In order to investigate microbial community structures in different wastewater treatment processes and understand the relationship between the structures and the status of processes, the microbial community diversity, variety and distribution in five wastewater treatment pro cesses were studied by a culture-independent genetic fingerprinting technique single-strand conformation polymorphism (SSCP). The five processes included denitrifying and phosphate-removal system (diminished N), Chinese traditional medicine wastewater treatment system (P), beer wastewater treatment system (W), fermentative biohydrogen-producing system (H), and sulfate-reduction system (S). The results indicated that the microbial community profiles in the wastewater bioreactors with the uniform status were very similar. The diversity of microbial populations was correlated with the complexity of organic contaminants in wastewater. Chinese traditional medicine wastewater contained more complex organic components; hence, the population diversity was higher than that of simple nutrient bioreactors fed with molasses wastewater. Compared with the strain bands in a simulated community, the relative proportion of some functional microbial populations in bioreactors was not dominant. Fermentative biohydrogen producer in the better condition bioreactor had only a 5% band density, and the sp. in the sulfate-reducing bioreactor had less than 1.5% band density. The SSCP profiles could identify the difference in microbial community structures in wastewater treatment processes, monitor some of the functional microbes in these processes, and consequently provide useful guidance for improving their efficiency.

关键词： technique single-strand     proportion     bioreactor     community diversity     fingerprinting technique    

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Base editing in pigs for precision breeding

Ruigao SONG, Yu WANG, Yanfang WANG, Jianguo ZHAO

《农业科学与工程前沿（英文）》 2020年 第7卷 第2期   页码 161-170 doi: 10.15302/J-FASE-2019308

摘要：

Pigs are one of the most important domesticated animals and have great value in agriculture and biomedicine. Single nucleotide polymorphisms (SNPs) are a dominant type of genetic variation among individual pigs and contribute to the formation of traits. Precision single base substitution provides a strategy for accurate genetic improvement in pig production with the characterization of functional SNPs and genetic variants in pigs. Base editing has recently been developed as the latest gene-editing tool that can directly make changes in single nucleotides without introducing double-stranded DNA breaks (DSBs), providing a promising solution for precise genetic modification in large animals. This review summarizes gene-editing developments and highlights recent genetic dissection related to SNPs in major economic traits which may have the potential to be modified using SNP-editing applications. In addition, limitations and future directions of base editing in pig breeding are discussed.

关键词： base editing     genetic improvement     pigs     single nucleotide polymorphisms    

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Carcinogens that induce the A:T>T:A nucleotide substitutions in the genome

null

《医学前沿（英文）》 2018年 第12卷 第2期   页码 236-238 doi: 10.1007/s11684-017-0611-y

摘要：

Recently, Ng . reported that the A:T>T:A substitutions, proposed to be a signature of aristolochic acid (AA) exposure, were detected in 76/98 (78%) of patients with hepatocellular carcinoma (HCC) from the Taiwan Province of China, and 47% to 1.7% of HCCs from the Chinese mainland and other countries harbored the nucleotide changes. However, other carcinogens, e.g., tobacco carcinogens 4-aminobiphenyl and 1,3-butadiene, air toxic vinyl chloride and its reactive metabolites chloroethylene oxide, melphalan and chlorambucil, also cause this signature in the genome. Since tobacco smoke is a worldwide public health threat and vinyl chloride distributes globally and is an air pollutant in Taiwan Province, the estimation of the patients’ exposure history is the key to determine the “culprit” of the A:T>T:A mutations. Apparently, without estimation of the patients’ exposure history, the conclusion of Ng is unpersuasive and misleading.

关键词： genomic signature     carcinogen     aristolochic acid     tobacco smoke     vinyl chloride     hepatocellular carcinoma    

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宿主微生物组内的基因组突变——适应性进化或净化选择 Review

张家超, Rob Knight

《工程（英文）》 2023年 第20卷 第1期   页码 96-102 doi: 10.1016/j.eng.2021.11.018

摘要：

二代测序技术转变了人们评估宿主相关微生物区系和微生物组的分类组成功能的能力。未来10 年将会开展更多的人类微生物组研究，特别是那些探索微生物组内基因组突变的研究。本文聚焦于微生物组内菌株之间的共同进化，塑造了宿主肠道微生物种内和种间的菌株水平多样性。还探讨了微生物基因组突变与常见代谢疾病之间的关联，以及病原体和益生菌在入侵和定植过程中的适应性进化。最后，讨论了注释和分析微生物基因组突变方法和算法的研究进展。

关键词： 肠道菌群     基因组突变     适应性进化     净化选择     单核苷酸变异    

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Association of SIPA1 545 C>T polymorphism with survival in Chinese women with metastatic breast cancer

null

《医学前沿（英文）》 2013年 第7卷 第1期   页码 138-142 doi: 10.1007/s11684-013-0247-5

摘要：

It has been demonstrated that single nucleotide polymorphisms (SNPs) of SIPA1 (signal-induced proliferation associated gene 1) are associated with metastatic efficiency in both human and rodents. The purpose of this study was to determine whether SIPA1 545 C>T polymorphism was associated with overall survival in patients with metastatic breast cancer. In this study, SIPA1 545 C>T polymorphism was detected in 185 metastatic breast cancer patients using polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP). Survival curves for patients with SIPA1 545 C>T polymorphism was compared using the Kaplan-Meier method with log-rank tests. We found that SIPA1 545 C>T polymorphism was significantly associated with survival in 185 patients with metastatic breast cancer. Patients with SIPA1545 T/T genotype had a significantly worse overall survival (OS) than did patients with C/T or C/C genotype (50.0% vs. 62.9%, P = 0.042). Moreover, in multivariate analysis, as compared with the C/C or C/T genotype, the T/T genotype remained an independent unfavorable prognostic marker of OS in this cohort (hazard ratio [HR] = 2.16; 95% CI= 1.12–4.15; P = 0.022). Our findings indicate that metastatic breast cancer patients with SIPA1 545 T/T genotype have a poorer survival compared to patients with C/C or C/T genotype.

关键词： SIPA1     polymorphism     metastatic breast cancer     survival    

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Polymorphism of pharmaceutical molecules: perspectives on nucleation

Jie LU, Zhen LI, Xiaolin JIANG,

《化学科学与工程前沿（英文）》 2010年 第4卷 第1期   页码 37-44 doi: 10.1007/s11705-009-0294-2

摘要： Polymorphism is a widespread phenomenon observed in more than half of all drug substances. Various polymorphs frequently possess different physical, chemical, mechanical and thermal properties that can profoundly affect the bioavailability, stability and other performance characteristics of the drug. Accordingly, the elucidation of the relationship between the particular polymorph of a pharmaceutical molecule and its functional properties is crucial to select the most suitable polymorph of the pharmaceutical molecule for development into a drug product. This review briefly introduces recent advances in the discovery and control of the polymorphs of pharmaceutical molecules, in terms of the enhancement of the selective nucleation of a particular polymorph. In the light of this, some cases discussed in the following is to be considered controversial.

关键词： development     Polymorphism     elucidation     controversial     relationship    

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A post-GWAS replication study confirming the association of

Shaohua YANG,Chao QI,Yan XIE,Xiaogang CUI,Yahui GAO,Jianping JIANG,Li JIANG,Shengli ZHANG,Qin ZHANG,Dongxiao SUN

《农业科学与工程前沿（英文）》 2014年 第1卷 第4期   页码 321-330 doi: 10.15302/J-FASE-2014037

摘要： Genome-wide association studies with an Illumina Bovine50K chip have detected 105 SNPs associated with one or multiple milk production traits in the Chinese Holstein population. Of these, 38 significant SNPs detected with high confidence by both L1-TDT and MMRA methods were selected to further mine potential key genes affecting milk yield and milk composition. By blasting the flanking sequences of these 38 SNPs with the bovine genome sequence combined with comparative genomics analysis, 26 genes were found to contain or be near to such SNPs. Among them, the gene is merely 87 bp away from the significant SNP, Hapmap30383-BTC-005848. Hence, we report herein genotype-phenotype associations to further validate the genetic effects of the gene. By pooled DNA sequencing of 14 unrelated Holstein sires, a total of 18 with seven novel SNPs were identified. Among them, nine SNPs were in the 5′ regulatory region, one in exon 6 and the other in the 3′ UTR and 3′ regulatory region. A total of nine of these identified SNPs were successfully genotyped and analyzed by mass spectrometry for association with five milk production traits in an independent resource population. The results showed that these SNPs were statistically significant for more than two traits [ <(0.0001-0.0267)]. In addition, mRNA expression analyses revealed that was ubiquitous in eight different tissues, with a relatively higher expression level in the mammary gland than in other tissues. These findings, therefore, provide strong evidence for association of variants with milk yield and milk composition traits and may be applied in Chinese Holstein breeding programs.

关键词： GWAS     functional annotation     Chinese Holstein     milk production traits     C14H8orf33 gene     single nucleotide polymorphisms     association study    

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Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

《医学前沿（英文）》 2010年 第4卷 第1期   页码 101-105 doi: 10.1007/s11684-010-0017-6

摘要： Abnormal phospholipid metabolism in the brain plays an important role in neuropsychiatric diseases. Phospholipase A2 (PLA2) is a crucial element for normal neuro-physiological function. This study aims to investigate the genetic association between the polymorphism of cytosolic phospholipase A2 (cPLA2) family genes and schizophrenia among Han Chinese in the northern part of China. The polymerase chain reaction-based ligase detection reaction (PCR-LDR) was applied to detect the genotype ten single nucleotide polymorphisms (SNPs) of cPLA2 family genes among 201 pedigrees consisting of fathers, mothers and affected offsprings with schizophrenia. The pedigrees were collected from 2000 to 2006. Haplotype relative risk (HRR) test, transmission disequilibrium test (TDT), haplotype transmission analysis and multiple locus analysis were conducted to analyze the genotyping data. The genotypic frequency of cPLA2 gene did not deviate from Hardy-Weinberg equilibrium either in case or control group. HRR and TDT showed that the ten SNPs were not associated with schizophrenia (>0.05). Analysis for haplotype transmission showed that no haplotype system was associated with schizophrenia (>0.05). The conditioning on allele (COA) and conditioning on gene (COG) tests showed disease associations with the haplotype of rs2162886-rs1668589, rs891014-rs1668589 and rs2307279-rs7542180 (χ=6.913, =0.032; χ=8.393, =0.015; χ=8.447, =0.038). Our data suggest that many loci in the cPLA2 family genes may be associated with schizophrenia.

关键词： schizophrenia     cytosolic phospholipase A2     ligase detection reaction     polymorphism    

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Polymorphism and crystal transformation of penicillin sulfoxide

Dingding JING, Yongli WANG, Zhijian CHEN, Lina ZHOU, Jingkang WANG

《化学科学与工程前沿（英文）》 2011年 第5卷 第4期   页码 442-447 doi: 10.1007/s11705-011-1140-x

摘要： Penicillin sulfoxide is the intermediate for the synthesis of 7-amino-3-desacetoxycephalosporanic acid which is one of the most important nucleuses of cephalosporin antibiotic. In this contribution, two crystal structures of penicillin sulfoxide (forms I and II) were determined by X-ray diffraction, and their thermotropic properties were investigated by differential scanning calorimetry (DSC). Furthermore, the transformation of form II to form I was studied quantitatively by Raman spectroscopy, and its rates at different temperatures were determined. The results indicate that penicillin sulfoxide is more stable as form I, and the temperature plays an important role in the crystal transformation.

关键词： penicillin sulfoxide     crystallization     polymorphism     crystal transformation     Raman spectroscopy    

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Relationship of endothelial nitric oxide synthase gene polymorphism with blood pressure, lipid profile

TANG Zhongzhi, LI Junyao, YANG Jianhong

《医学前沿（英文）》 2008年 第2卷 第2期   页码 178-181 doi: 10.1007/s11684-008-0033-y

摘要： To study the relationship of the polymorphism of endothelial nitric oxide synthase (eNOS) gene and blood pressure, lipid profiles and blood glucose level. By using PCR-RFLP, the eNOS Glu298Asp gene polymorphism was detected in 184 patients with essential hypertension and 196 matched healthy individuals with normal blood pressure. Taking into account eNOS Glu298Asp polymorphisms, the relationship of blood pressure with triglycerides (TG), total cholesterol (TC), high density lipoprotein (HDL), low density lipoprotein (LDL) and blood glucose level was analyzed. The distribution of eNOS Glu298Asp polymorphism had no significant difference between different blood pressure groups and gender groups, but there was a significant difference between different age groups, diastolic blood pressure groups or BMI groups ( < 0.05). Asp/Asp genotype significantly increased the risk of hypertension in individuals with serum TC above 5.4 mmol/L ( = 0.03, = 2.65). eNOS Glu298Asp polymorphism and serum lipid could synergistically modulate the blood pressure. eNOS Asp/Asp genotype could significantly increase the risk of hypertension in individuals with serum TC over 5.4 mmol/L. eNOS Glu298Asp in combination with serum TC could be used to predict the risk of hypertension.
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Association study on GNB3 gene polymorphism with essential hypertension in Xinjiang Uygur group

JING Jianying, WANG Dan, WANG Xiaofeng, JIN Jianzhong, JIN Li, JIAO Yi, WEN Hao, LIN Renyong

《医学前沿（英文）》 2007年 第1卷 第2期   页码 230-233 doi: 10.1007/s11684-007-0045-z

摘要： The relationship between the tenth exon C825T of G-protein β3 subunit (GNB) genetic polymorphism and hypertension in the Uygur population of China was investigated. A nested case-control study ( = 738) was carried out. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to genotype GNB C825T polymorphism in 354 hypertensive (HT) and 384 normotensive (NT) Uygur subjects. The distributions of GNB C825T genotypes were CC (27.2%), TT (42.9%), and CT (29.9%) in the hypertensive subjects and CC (27.7%), TT (42.4%), CT (29.9%) in the normotensive subjects. There were no significant differences in the genotype distributions between the two groups ( = 0.0262 P = 0.99). The T allele was 51.4% in hypertensive subjects and 51.2% in normotensive subjects, which, between the two groups, was not a significant difference ( = 0.0016 P = 0.97). Further analysis shows that there is no association between C825T genotypes and age, body mass index (BMI), Glucose (GLU), Triglyceride (TG), Cholesterol (CHO), systolic blood pressure (SBP) and diastolic blood pressure (DBP). No evidence was found to suggest an association between GNB C825T polymorphism and hypertension in the Uygur population of China.

关键词： case-control     significant difference     reaction-restriction fragment     C825T polymorphism     evidence    

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Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

《医学前沿（英文）》 2007年 第1卷 第3期   页码 320-326 doi: 10.1007/s11684-007-0062-y

摘要： The aim of this study was to explore the association of the genetic polymorphism of and with the susceptibility to chronic benzene poisoning (CBP). A case-control study of 268 patients with CBP and 268 healthy workers matched by age and sex, all of whom were occupationally exposed to benzene, was conducted. The single nucleotide polymorphisms (SNPs, rs2854451, rs3738047, rs2234922 and rs1051741) of gene and the SNP (rs751141) of gene were tested by the TaqMan PCR method. In the subjects carrying the genotype of rs3738047 GG, the risk of CBP was decreased in the individuals simultaneously carrying rs2234922 G ( = 0.02). Alternatively, in the subjects carrying the genotype of rs2234922 AA, the risk of CBP was increased in the individuals simultaneously carrying the allele of rs751141A ( = 0.03). It was also found that there were potential interactions between alcohol consumption and the polymorphism of rs1051741 ( = 5.28, = 0.02) or rs2234922 (= 6.71, = 0.01). Compared to individuals with rs1051741 CC or rs2234922 AA genotype in the drinkers, the risk of CBP in those carrying genotypes of rs1051741 CT+TT or rs2234922 AG+GG was decreased, respectively ( = 0.04, 〈0.01). Haplotype analysis of polymorphisms in showed that the risk of CBP was increased in the subjects with haplotype 2 (rs2854451-A, rs3738047-G, rs2234922-A, rs1051741-C) or haplotype 4 (rs2854451-G, rs3738047-A, rs2234922-G, rs1051741-T), but decreased in those with haplotype 6 (rs2854451-G, rs3738047-G, rs2234922-G, rs1051741-T) or haplotype 10 (rs2854451-A, rs3738047-A, rs2234922-G, rs1051741-T), respectively. Logistic regression analysis revealed that smoking might play a role in modifying the risk of CBP (OR = 0.313, 95% CI: 0.123 0.794, = 0.015). The genetic polymorphism in may be associated with the risk of CBP in the Chinese occupational population and further research is needed for the association between the genetic polymorphism in and the susceptibility to CBP.

关键词： case-control     rs2854451     regression analysis     haplotype     further research    

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Advances in newly developing therapy for chronic hepatitis C virus infection

null

《医学前沿（英文）》 2014年 第8卷 第2期   页码 166-174 doi: 10.1007/s11684-014-0334-2

摘要：

Chronic hepatitis C virus (HCV) infection afflicts a reported 170 million people worldwide and is often complicated by cirrhosis and hepatocellular carcinoma. Morbidity and mortality are decreased with the successful treatment of chronic HCV infection. Increased understanding of the HCV has allowed further development of new direct-acting antiviral (DAA) agents against the HCV and has also allowed the development of IFN-free oral treatment regimens. In late 2013 the first nucleotide polymerase inhibitor regimen with RBV alone for genotypes 2/3 and in combination with a 12-week regimen of PEG-IFN+RBV for genotypes 1, 4 was approved for use in the US. A number of promising new DAA regimens which are IFN-free are in phase 3 development and the first will likely be approved for use in the US in 2014. The currently approved regimens are discussed in detail and currently available data on future regimens are reviewed herein.

关键词： direct-acting antiviral (DAA)     nucleotide polymerase inhibitors     protease inhibitors    

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标题 作者 时间 类型 操作

The role of natriuretic peptide precursor A gene polymorphism in the development of coronary heart disease

Ripen NSENGA MD, Longxian CHENG PhD, Mei’an HE PhD, Tangchun WU PhD,

期刊论文

FMO3--TMAO axis modulates the clinical outcome in chronic heart-failure patients with reduced ejection fraction: evidence from an Asian population

期刊论文

Microbial community structure in different wastewater treatment processes characterized by single-strandconformation polymorphism (SSCP) technique

ZHAO Yangguo, WANG Aijie, REN Nanqi, ZHAO Yan

期刊论文

Base editing in pigs for precision breeding

Ruigao SONG, Yu WANG, Yanfang WANG, Jianguo ZHAO

期刊论文

Carcinogens that induce the A:T>T:A nucleotide substitutions in the genome

null

期刊论文

宿主微生物组内的基因组突变——适应性进化或净化选择

张家超, Rob Knight

期刊论文

Association of SIPA1 545 C>T polymorphism with survival in Chinese women with metastatic breast cancer

null

期刊论文

Polymorphism of pharmaceutical molecules: perspectives on nucleation

Jie LU, Zhen LI, Xiaolin JIANG,

期刊论文

A post-GWAS replication study confirming the association of

Shaohua YANG,Chao QI,Yan XIE,Xiaogang CUI,Yahui GAO,Jianping JIANG,Li JIANG,Shengli ZHANG,Qin ZHANG,Dongxiao SUN

期刊论文

Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

期刊论文

Polymorphism and crystal transformation of penicillin sulfoxide

Dingding JING, Yongli WANG, Zhijian CHEN, Lina ZHOU, Jingkang WANG

期刊论文

Relationship of endothelial nitric oxide synthase gene polymorphism with blood pressure, lipid profile

TANG Zhongzhi, LI Junyao, YANG Jianhong

期刊论文

Association study on GNB3 gene polymorphism with essential hypertension in Xinjiang Uygur group

JING Jianying, WANG Dan, WANG Xiaofeng, JIN Jianzhong, JIN Li, JIAO Yi, WEN Hao, LIN Renyong

期刊论文

Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

期刊论文

Advances in newly developing therapy for chronic hepatitis C virus infection

null

期刊论文