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| 1 | Genetic association of interleukin-6 polymorphism (-174 G/C) with chronic liver diseases and hepatocellular carcinoma显示文摘Interleukin-6 (IL-6) is a pleiotropic cytokine which is expressed in many inflammatory cells in response to different types of stimuli, regulating a number of biological processes. The IL-6 gene is polymorphic in both the 5' and 3' flanking regions and more than 150 single nucleotide polymorphisms have been identified so far. Genetic polymorphisms of IL-6 may affect the outcomes of several diseases, where the presence of high levels of circulating IL-6 have been correlated to the stage and/or the progression of the disease itself. The -174 G/C polymorphism is a frequent polymorphism, that is located in the upstream regulatory region of the IL-6 gene and affects IL-6 production. However, the data in the literature on the genetic association between the -174 G/C polymorphism and some specific liver diseases characterized by different etiologies are still controversial. In particular, most of the studies are quite unanimous in describing a correlation between the presence of the high-producer genotype and a worse evolution of the chronic liver disease. This is valid for patients with hepatitis C virus (HCV)-related chronic hepatitis and liver cirrhosis and hepatocellu-lar carcinoma (HCC) whatever the etiology. Studies in hepatitis B virus-related chronic liver diseases are not conclusive, while specific populations like non alcoholic fatty liver disease/non-alcoholic steatohepatitis, autoimmune and human immunodeficiency virus/HCV coinfected patients show a higher prevalence of the lowproducer genotype, probably due to the complexity of these clinical pictures. In this direction, a systematic revision of these data should shed more light on the role of this polymorphism in chronic liver diseases and HCC. | Lydia Giannitrapani Maurizio Soresi Daniele Balasus Anna Licata Giuseppe Montalto | 2013 | World Journal of Gastroenterology2013，19，16： | 19 |
| 2 | PNPLA3 I148M polymorphism and progressive liver disease显示文摘The 148 Isoleucine to Methionine protein variant(I148M)of patatin-like phospholipase domain-containing 3(PNPLA3),a protein is expressed in the liver and is involved in lipid metabolism,has recently been identified as a major determinant of liver fat content.Several studies confirmed that the I148M variant predisposes towards the full spectrum of liver damage associated with fatty liver:from simple steatosis to steatohepatitis and progressive fibrosis.Furthermore,the I148M variant represents a major determinant of progression of alcohol related steatohepatitis to cirrhosis,and to influence fibrogenesis and related clinical outcomes in chronic hepatitis C virus hepatitis,and possibly chronic hepatitis B virus hepatitis,hereditary hemochromatosis and primary sclerosing cholangitis.All in all,studies suggest that the I148M polymorphism may represent a general modifier of fibrogenesis in liver diseases.Remarkably,the effect of the I148M variant on fibrosis was independent of that on hepatic steatosis and inflammation,suggesting that it may affect both the quantity and quality of hepatic lipids and the biology of non-parenchymal liver cells besides hepatocytes,directly promoting fibrogenesis.Therefore,PNPLA3 is a key player in liver disease progression.Assessment of the I148M polymorphism will possibly inform clinical practice in the future,whereas the determination of the effect of the 148M variant will reveal mechanisms involved in hepatic fibrogenesis. | Paola Dongiovanni Benedetta Donati Roberta Fares Rosa Lombardi Rosellina Margherita Mancina Stefano Romeo Luca Valenti | 2013 | World Journal of Gastroenterology2013，19，41： | 17 |
| 3 | Current and future directions for treating hepatitis B virus infection显示文摘Hepatitis B virus(HBV) persistently infects approximately 350 million people, and approximately 600000 liverrelated deaths are observed per year worldwide. HBV infection is also one of the major risk factors for hepatocellular carcinoma(HCC). The persistence of serum hepatitis B e antigen(HBe Ag) and high level of serum HBV DNA are thought to reflect a high HBV replication status in hepatocytes, causing cirrhosis, HCC and liver-related deaths. It has been reported that antiviral therapy, such as peginterferon and nucleos(t)ide analogues(NUCs), could suppress liver-related death by inhibiting the HBV DNA levels and inducing seroconversion from HBe Ag to antibody to HBe antigen. Currently, peginterferon is widely used, but there are also several disadvantages in the use of peginterferon, such as various adverse events, the administration route and duration. It is difficult to predict the effects of treatment and interferon is contraindicated for the patients with advanced fibrosis of the liver and cirrhosis. With respect to NUCs, entecavir and tenofovir disoproxil fumarate are current the first-choice drugs. NUCs can be administered orally, and their anti-viral effects are stronger than that of peginterferon. However, because cessation of NUC administration leads to high levels of viral replication and causes severe hepatitis, they must be administered for a long time. On the other hand, the use of both interferon and NUCs cannot eliminate covalently closed circular DNA of HBV. In this review, we evaluate the natural course of chronic HBV infection and then provide an outline of these representative drugs, such as peginterferon, entecavir and tenofovir disoproxil fumarate. | Akinobu Tawada Tatsuo Kanda Osamu Yokosuka | 2015 | World Journal of Hepatology2015，7，11： | 16 |
| 4 | Pharmacogenetic considerations for optimizing tacrolimus dosing in liver and kidney transplant patients显示文摘The introduction of tacrolimus in clinical practice has improved patient survival after organ transplant.However,despite the long use of tacrolimus in clinical practice,the best way to use this agent is still a matter of intense debate.The start of the genomic era has generated new research areas,such as pharmacogenetics,which studies the variability of drug response in relation to the genetic factors involved in the processes responsible for the pharmacokinetics and/or the action mechanism of a drug in the body.This variability seems to be correlated with the presence of genetic polymorphisms.Genotyping is an attractive option especially for the initiation of the dosing of tacrolimus;also,unlike phenotypic tests,the genotype is a stable characteristic that needs to be determined only once for any given gene.However,prospective clinical studies must show that genotype determination before transplantation allows for better use of a given drug and improves the safety and clinical efficacy of that medication.At present,research has been able to reliably show that the CYP3A5 genotype,but not the CYP3A4 or ABCB1 ones,can modify the pharmacokinetics of tacrolimus.However,it has not been possible to incontrovertibly show that the corresponding changes in the pharmacokinetic profile are linked with different patient outcomes regarding tacrolimus efficacy and toxicity.For these reasons,pharmacogenetics and individualized medicine remain a fascinating area for further study and may ultimately become the face of future medical practice and drug dosing. | Alessio Provenzani Andrew Santeusanio Erin Mathis Monica Notarbartolo Manuela Labbozzetta Paola Poma Ambra Provenzani Carlo Polidori Giovanni Vizzini Piera Polidori Natale D'Alessandro | 2013 | World Journal of Gastroenterology2013，19，48： | 15 |
| 5 | Epidemiological studies of esophageal cancer in the era of genome-wide association studies显示文摘Esophageal cancer(EC) caused about 395000 deaths in 2010. China has the most cases of EC and EC is the fourth leading cause of cancer death in China. Esophageal squamous cell carcinoma(ESCC) is the predominant histologic type(90%-95%), while the incidence of esophageal adenocarcinoma(EAC) remains extremely low in China. Traditional epidemiological studies have revealed that environmental carcinogens are risk factors for EC. Molecular epidemiological studies revealed that susceptibility to EC is influenced by both environmental and genetic risk factors. Of all the risk factors for EC, some are associated with the risk of ESCC and others with the risk of EAC. However, the details and mechanisms of risk factors involved in the process for EC are unclear. The advanced methods and techniques used in human genome studies bring a great opportunity for researchers to explore and identify the details of those risk factors or susceptibility genes involved inthe process of EC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era to the era of genome wide association studies(GWAS). Here we review the epidemiological studies of EC(especially ESCC) in the era of GWAS, and provide an overview of the general risk factors and those genomic variants(genes, SNPs, miRNAs, proteins) involved in the process of ESCC. | An-Hui Wang Yuan Liu Bo Wang Yi-Xuan He Ye-Xian Fang Yong-Ping Yan | 2014 | World Journal of Gastrointestinal Pathophysiology2014，5，3： | 14 |
| 6 | Risk factors for gastroesophageal reflux disease and analysis of genetic contributors显示文摘Gastroesophageal reflux disease(GERD) is a common gastrointestinal disorder with an increasing prevalence. GERD develops when the reflux of stomach contents causes troublesome typical and atypical symptoms and/or complications. Several risk factors of GERD have been identified and evaluated over the years, including a considerable amount of genetic factors. Multiple mechanisms are involved in the pathogenesis of GERD including:(1) motor abnormalities, such as impaired lower esophageal sphincter(LES) resting tone, transient LES relaxations, impaired esophageal acid clearance and delayed gastric emptying; and(2) anatomical factors, such as hiatal hernia and obesity. Genetic contribution seems to play a major role in GERD and GERD-related disorders development such Barrett's esophagus and esophageal adenocarcinoma. Twin and family studies have revealed an about 31% heritability of the disease. Numerous single-nucleotide polymorphisms in various genes like FOXF1, MHC, CCND1, anti-inflammatory cytokine and DNA repair genes have been strongly associated with increased GERD risk. GERD, Barrett'sesophagus and esophageal adenocarcinoma share several genetic loci. Despite GERD polygenic basis,specific genetic loci such as rs10419226 on chromosome 19, rs2687201 on chromosome 3, rs10852151 on chromosome 15 and rs520525 on the paired related homeobox 1 gene have been mentioned as potential risk factors. Further investigation on the risk genes may elucidate their exact function and role and demonstrate new therapeutic approaches to this increasingly common disease. | Alexandra Argyrou Evangelia Legaki Christos Koutserimpas Maria Gazouli Ioannis Papaconstantinou George Gkiokas George Karamanolis | 2018 | World Journal of Clinical Cases2018，6，8： | 14 |
| 7 | Use of blood-based biomarkers for early diagnosis and surveillance of colorectal cancer显示文摘Early screening for colorectal cancer(CRC) holds the key to combat and control the increasing global burden of CRC morbidity and mortality. However, the current available screening modalities are severely inadequate because of their high cost and cumbersome preparatory procedures that ultimately lead to a low participation rate. People simply do not like to have colonoscopies. It would be ideal, therefore, to develop an alternative modality based on blood biomarkers as the first line screening test. This will allow for the differentiation of the general population from high risk individuals. Colonoscopy would then become the secondary test, to further screen the high risk segment of the population. This will encourage participation and therefore help to reach the goal of early detection and thereby reduce the anticipated increasing global CRC incidence rate. A blood-based screening test is anappealing alternative as it is non-invasive and poses minimal risk to patients. It is easy to perform, can be repeated at shorter intervals, and therefore would likely lead to a much higher participation rate. This review surveys various blood-based test strategies currently under investigation, discusses the potency of what is available, and assesses how new technology may contribute to future test design. | Ganepola AP Ganepola Joel Nizin John R Rutledge David H Chang | 2014 | World Journal of Gastrointestinal Oncology2014，6，4： | 11 |
| 8 | Anti-viral therapy to reduce recurrence and improve survival in hepatitis B virus-related hepatocellular carcinoma显示文摘Hepatocellular carcinoma(HCC)is the most common malignancy and the third leading cause of cancer death worldwide.Chronic infection with hepatitis B virus(HBV)and hepatitis C virus accounts for approximately75%-80%of HCC cases worldwide.In particular,chronic HBV infection is a predominant risk factor for HCC in Asia and Africa.Hepatic resection and radiofrequency ablation are increasingly used for the curative treatment of HCC,and good local control can be achieved.However,the high rate of recurrence is a major obstacle to improving prognosis.A high viral load of HBV DNA is the most important correctable risk factor for recurrence.Furthermore,interferon and/or nucleotide analogues may decrease HBV DNA.Therefore,these drugs may decrease recurrence.In this article,treatment strategies for HBV-related HCC are described in order to reduce recurrence and improve survival. | Toru Ishikawa | 2013 | World Journal of Gastroenterology2013，19，47： | 11 |
| 9 | 茶树CHS基因结构及编码区单核苷酸多态性分析显示文摘【目的】通过试验获得茶树CHS基因(CsCHS)gDNA序列,以进一步确定CsCHS基因结构;研究CsCHS编码区单核苷酸多态性,并结合茶树多酚含量进行关联分析,寻找基因中可能存在的与茶多酚含量存在显著或极显著相关关系的SNP位点。【方法】根据NCBI数据库中已有CsCHS序列设计特异性引物,再分别以基因组DNA和cDNA为模板进行PCR扩增,经克隆、测序获得CsCHS1、CsCHS2、CsCHS3三个基因的gDNA和cDNA全长序列,通过序列比对方法确定CsCHS结构。利用Compute pI/Mw、SOPMA等软件对所得序列进行生物信息学分析,预测和比较CsCHS1、CsCHS2和CsCHS3三者蛋白质结构。以茶多酚含量差异较大的57份茶树品种为材料,分别以57份材料的cDNA为模板,用特异性引物进行PCR扩增,然后利用PCR产物直接测序法筛查CsCHS编码区序列的单核苷酸多态性。结合CsCHS编码区序列单核苷酸多态性和57份材料多酚含量,利用软件TASSEL进行关联分析,筛选基因中可能与茶多酚含量存在显著或极显著相关关系的SNP位点。【结果】试验获得CsCHS1、CsCHS2和CsCHS3的cDNA序列长度分别为1 277、1 320和1 242 bp,各自均包含一个长度为1 170 bp的开放阅读框;CsCHS1、CsCHS2和CsCHS3的gDNA序列长度分别为1 600、1 330和1 607 bp。通过gDNA序列和cDAN序列比对,结合真核生物内含子GT-AG法则,确定CsCHS1、CsCHS3分别包含2个外显子和1个内含子,内含子大小分别为323和356 bp,CsCHS2可能没有内含子。根据CsCHS1、CsCHS2和CsCHS3 cDNA序列推导三者对应氨基酸序列,比较三条氨基酸序列发现三者氨基酸同源性较高,达到92.6%—95.4%,CHS蛋白亚家族中的特征性保守位点在这三条序列中都能找到,生物信息学分析结果显示CsCHS1、CsCHS2和CsCHS3三者蛋白质结构高度相似。CsCHS1编码区序列中共发现71个SNP位点,SNP出现频率为1SNP/16.48 bp,无Indel,基因核苷酸多样性(π)值为0.01088;CsCHS2编码区序列中共发现55个SNP位点,SNP出现频率分别为1SNP/21.27 bp,CsCHS2核苷酸多样性(π)值(0.00530)明显低于CsCHS1;因扩增CsCHS3 cDNA序列的PCR反应成功率低,未对该基因遗传多样性进行分析。通过关联分析分别从CsCHS1和CsCHS2中找到2个和4个与茶叶多酚含量相关的SNP位点。【结论】CsCHS1和CsCHS3属于保守型CHS基因,且CsCHS1、CsCHS2和CsCHS3蛋白质结构高度相似,推测三者可能在茶树的不同部位或不同生长阶段发挥类似作用;CsCHS1和CsCHS2活跃,二者编码区内可能存在突变热点区。 | 张丽群 韦康 王丽鸳 成浩 刘本英 龚武云 | 2014 | 中国农业科学2014，47，1： | 11 |
| 10 | Pro12Ala polymorphism of the peroxisome proliferator-activated receptor γ2 in patients with fatty liver diseases显示文摘AIM:To test the occurrence of the Pro12Ala mutation of the peroxisome proliferator-activated receptor-γ (PPARγ)2-gene in patients with non-alcoholic fatty liver disease (NAFLD) or alcoholic fatty liver disease (AFLD).METHODS:DNA from a total of 622 specimens including 259 blood samples of healthy blood donors and 363 histologically categorized liver biopsies of patients with NAFLD (n=263) and AFLD (n=100) were analyzed by Real-time polymerase chain reaction using allele-specific probes.RESULTS:In the NAFLD and the AFLD collective,3% of the patients showed homozygous occurrence of the Ala12 PPARγ2-allele,differing from only 1.5% cases in the healthy population.In NAFLD patients,a high incidence of the Ala12 mutant was not associated with the progression of fatty liver disease.However,we observed a significantly higher risk (odds ratio=2.50,CI:1.05-5.90,P=0.028) in AFLD patients carrying the mutated Ala12 allele to develop inflammatory alterations.The linkage of the malfunctioning Ala12-positive PPARγ2 isoform to an increased risk in patients with AFLD to develop severe steatohepatitis and fibrosis indicates a more prominent anti-inflammatory impact of PPARγ2 in progression of AFLD than of NAFLD.CONCLUSION:In AFLD patients,the Pro12Ala single nuclear polymorphism should be studied more extensively in order to serve as a novel candidate in biomarker screening for improved prognosis. | Johannes W Rey Andrea Noetel Aline Hardt Ali Canbay Hakan Alakus Axel zur Hausen Hans Peter Dienes Uta Drebber Margarete Odenthal | 2010 | World Journal of Gastroenterology2010，16，46： | 11 |
| 11 | 基于SNP标记的肉类溯源技术显示文摘本文阐述了建立肉类溯源系统对我国食品安全和国际贸易的重要性,并对溯源管理、食品溯源系统进行概述。重点讲述各种DNA标记技术的原理、利弊,以及在肉制品溯源标记应用的比较、SNP位点的检测方法等。最后指出了我国肉类溯源技术研究的方向和趋势。 | 张小波 何慧 吴潇 朱连龙 唐雪明 | 2011 | 肉类研究2011，25，5： | 10 |
| 12 | NOD样受体在免疫耐受中的作用显示文摘Toll样受体(Toll-like receptors,TLR)和NOD样受体(Nucleotide binding oligomerization domain-like receptors,NLR)为代表的模式识别受体(Pattern recognition receptors,PRR)在固有免疫等领域发挥着重要作用,其中NLR作为一类胞内模式识别受体在免疫耐受领域也得到越来越多的关注。 | 章旭之 马毅 | 2017 | 中国免疫学杂志2017，33，6： | 9 |
| 13 | InDel and SNP Markers and Their Applications in Map-based Cloning of Rice Genes | Cun-hong PAN Ai-hong LI Zheng-yuan DAI Hong-xi ZHANG Guang-qing LIU Zi-bin WANG Yu-yin MA Yue-jun YIN Ya-fang ZHANG Shi-min ZUO Zong-xiang CHEN Xue-biao PAN | 2008 | Rice science2008，15，4： | 8 |
| 14 | Promoter polymorphism of MRP1 associated with reduced survival in hepatocellular carcinoma显示文摘AIM:To investigate the effect of the G-1666A polymorphism in the multidrug resistance related protein-1 (MRP1) on outcome of hepatocellular carcinoma (HCC). METHODS:A cohort of 162 patients with surgically resected HCC who received no postsurgical treatment until relapse was studied. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism analysis. Electrophoretic mobility shift assay (EMSA) was used to evaluate the influence of the G-1666A polymorphism on the binding affinity of the MRP1 promoter with its putative transcription factors. RESULTS:Kaplan-Meier analysis showed that patients with GG homologues had a reduced 4-year disease-free survival compared with those carrying at least one A allele (P = 0.011). Multivariate Cox regression analysis indicated that the-1666GG genotype represented an independent predictor of poorer disease-free survival [hazard ratio (HR) = 3.067,95% confidence interval (CI):1.587-5.952,P = 0.001],and this trend became worse in men (HR = 3.154,95% CI:1.604-6.201,P = 0.001). A similar association was also observed between 4-year overall survival and the polymorphism in men (HR = 3.342,95% CI:1.474-7.576,P = 0.004). Moreover,EMSA suggested that the G allele had a stronger binding affinity to nuclear proteins. CONCLUSION:The MRP1-1666GG genotype predicted a worse outcome and was an independent predictor of poor survival in patients with HCC from Southeast China. | Jing Zhao,Bing-Yun Yu,Jin-E Yang,Key Laboratory of Gene Engineering of the Ministry of Education,School of Life Sciences,Sun Yat-sen (Zhongshan) University,Guangzhou 510275,Guangdong Province,China Dao-Yuan Wang,Department of Medical Oncology,The First Affiliated Hospital of Guangzhou Medical College,Guangzhou 510120,Guangdong Province,China | 2010 | World Journal of Gastroenterology2010，16，48： | 8 |
| 15 | Ascomycota has a faster evolutionary rate and higher species diversity than Basidiomycota显示文摘Differences in rates of nucleotide or amino acid substitutions among major groups of organisms are repeatedly found and well documented. A growing body of evidence suggests a link between the rate of neutral molecular change within populations and the evolution of species diversity. More than 98% of terrestrial fungi belong to the phyla Ascomycota or Basidiomycota. The former is considerably richer in number of species than the latter. We obtained DNA sequences of 21 protein-coding genes from the lichenized fungus Rhizoplaca chrysoleuca and used them together with sequences from GenBank for subsequent analyses. Three datasets were used to test rate discrepancies between Ascomycota and Basidiomycota and that within Ascomycota: (i) 13 taxa including 105 protein-coding genes, (ii) nine taxa including 21 protein-coding genes, and (iii) nuclear LSU rDNA of 299 fungal species. Based on analyses of the 105 protein-coding genes and nuclear LSU rDNA datasets, we found that the evolutionary rate was higher in Ascomycota than in Basidiomycota. The differences in substitution rates between Ascomycota and Basidiomycota were significant. Within Ascomycota, the species-rich Sordariomycetes has the fastest evolutionary rate, while Leotiomycetes has the slowest. Our results indicate that the main contribution to the higher substitution rates in Ascomycota does not come from mutualism, ecological conditions, sterility, metabolic rate or shorter generation time, but is possibly caused by the founder effect. This is another example of the correlation between species number and evolutionary rates, which is consistent with the hypothesis that the founder effect is responsible for accelerated substitution rates in diverse clades. | Lumbsch H. THORSTEN | 2010 | Science China(Life Sciences)2010，53，10： | 8 |
| 16 | TIRAP rs8177374 gene polymorphism increased the risk of pulmonary tuberculosis in Zahedan,southeast Iran显示文摘Objective:To evaluate the possible association between Toll-interleukin 1 receptor(TIR) domain containing adaptor protein(TIRAP;also known as MAI.) rsl893352 and rs8l77374(S180L) gene polymorphisms and pulmonary tuberculosis(PTB) in a sample of Iranian population.Methods:This case-control study was performed on 174 PTB and 177 healthy subjects.Tetra amplification refractory mutation systetn-polymerase chain reaction(T-AKMS-PCR) was used to detect the polymorphisms.Results:Our finding showed that neither the overall Ckisqaare comparison of PTB and control subjects nor the logistic regression analysis indicated any association between rsl893352 polymorphism and PTB.Regarding rs8l77374 polymorphism,the CT genotype as well as CT+TT increased the risk of PTB in comparison with CC genotype(OR=4.73,95%CI=2.65-8.45,P<0.0001 and OR=6.47,95%C1=3.68-11.38,P<0.0001.respectively).The rs8177374 T allele increased the risk of PTB in comparison with C allele(OR=4.21.95%CI=2.43-7.26,P<0.0001).Conclusions:Our finding indicates that TIRAP rs8177374 polymorphism is associated with PTB in a sample of Iranian population. | Mohammad Naderi Mohammad Hashemi Zahra Pourmontaseri Ebrahim Eskari-Nasab Gholamreza Bahari Mohsen Taheri | 2014 | Asian Pacific Journal of Tropical Medicine2014，7，6： | 8 |
| 17 | Genetics of acute and chronic pancreatitis: An update显示文摘Progress made in identifying the genetic susceptibility underlying acute and chronic pancreatitis has benefitted the clinicians in understanding the pathogenesis of the disease in a better way. The identification of mutations in cationic trypsinogen gene(PRSS1 gene; functional gain mutations) and serine protease inhibitor kazal type 1(SPINK1 gene; functional loss mutations) and other potential susceptibility factors in genes that play an important role in the pancreatic secretory functions or response to inflammation during pancreatic injury has changed the current concepts and understanding of a complex multifactorial disease like pancreatitis. An indi-vidual's susceptibility to the disease is governed by ge-netic factors in combination with environmental factors. Candidate gene and genetic linkage studies have iden-tified polymorphisms in cationic trypsinogen(PRSS1), SPINK1, cystic fibrosis trans-membrane conductance regulator(CFTR), Chymotrypsinogen C(CTRC), Ca-thepsin B(CTSB) and calcium sensing receptor(CASR). Individuals with polymorphisms in the mentioned genes and other as yet identified genes are at an enhanced risk for the disease. Recently, polymorphisms in genes other than those involved in 'intra-pancreatic trypsin regulatory mechanism' namely Claudin-2(CLDN2) andCarboxypeptidase A1(CPA1) gene have also been iden-tified for their association with pancreatitis. With ever growing number of studies trying to identify the genetic susceptibility in the form of single nucleotide polymor-phisms, this review is an attempt to compile the avail-able information on the topic. | VV Ravi Kanth D Nageshwar Reddy | 2014 | World Journal of Gastrointestinal Pathophysiology2014，5，4： | 7 |
| 18 | Partial sequencing of 5' non-coding region of 7 HGV strains isolated from different areas of China显示文摘 | WANG Xing-Tai ZHUANG Hui SONG Hai-Bo Ll He-Min ZHANG Hua-Yuan and YU Yang(National Institute for the Control of bormceutical and BiologicalPriducts, Beijing 100050, China)(Department of Microbiology, Beijing Medical University, Beijing100083, China)(L | 1999 | World Journal of Gastroenterology1999，5，5： | 7 |
| 19 | Unique characteristics of the genetics epidemiology of amyotrophic lateral sclerosis in China显示文摘Continual discoveries of new genes and unraveling the genetic etiology in amyotrophic lateral sclerosis(ALS) have provided greater insight into the underlying pathogenesis in motor neuron degeneration, as well as facilitating the disease modeling and the testing of targeted therapeutics. While, the genetic etiology accounted for two-thirds of FALS and approximately 11% of SALS in Caucasians. However, the contributions of these causative genes to ALS vary among different populations. Furthermore, the prominent difference between Chinese population and other ethnics remains a source of ongoing debate. We systemically reviewed genetics literature of Chinese ALS populations and updated the mutation frequencies of the main ALS-implicated genes aiming to determine the genetic features of ALS in Chinese population. We also reviewed the associations between ALSimplicated single nucleotide polymorphisms(SNPs) and the risk of ALS in Chinese population. A total of 116 studies were included in this analysis(86 gene mutation study articles and 30 SNPs study articles). The results showed that the overall gene mutation rates of ALS-related causative genes were 55.0% in familial ALS(FALS) and 11.7% in sporadic ALS(SALS) in Chinese population. In Chinese FALS, the highest mutation frequency was found in SOD1 gene(25.6%), followed by FUS(5.8%), TARDBP(5.8%), DCTN1(3.6%) and C9 orf 72(3.5%). In Chinese SALS, the highest mutation frequency was also identified in SOD1 gene(1.6%), followed by ANXA11(1.4%), FUS(1.3%), SQSTM1(1.0%), OPTN(0.9%) and CCNF(0.8%).The associations between several SNPs and risk of ALS were also reported in Chinese population. The genetic features of ALS in Chinese population are significantly different from those in Caucasian population, indicating an association between genetic susceptibility and origin of population. Further explorations are required to understand the gene complexity of ALS, including the contribution of most minor genes and the molecular mechanisms in ALS pathologies. | Qianqian Wei Xueping Chen Yongping Chen Ruwei Ou Bei Cao Yanbing Hou Lingyu Zhang Hui-Fang Shang | 2019 | Science China(Life Sciences)2019，62，4： | 7 |
| 20 | Pharmacogenetic Correlates of Antipsychotic-Induced Weight Gain in the Chinese Population显示文摘Antipsychotic-induced weight gain(AIWG) is a common adverse effect of this treatment, particularly with second-generation antipsychotics, and it is a major health problem around the world. We aimed to review the progress of pharmacogenetic studies on AIWG in the Chinese population to compare the results for Chinese with other ethnic populations, identify the limitations and problems of current studies, and provide future research directions in China. Both English and Chinese electronic databases were searched to identify eligible studies. We determined that [ 25 single-nucleotide polymorphisms in19 genes have been investigated in association with AIWG in Chinese patients over the past few decades. HTR2 C rs3813929 is the most frequently studied single-nucleotide polymorphism, and it seems to be the most strongly associated with AIWG in the Chinese population. However, many genes that have been reported to be associated with AIWG in other ethnic populations have not beenincluded in Chinese studies. To explain the pharmacogenetic reasons for AIWG in the Chinese population,genome-wide association studies and multiple-center, standard, unified, and large samples are needed. | Chao Luo Junyan Liu Xu Wang Xiaoyuan Mao Honghao Zhou Zhaoqian Liu | 2019 | Neuroscience Bulletin2019，35，3： | 7 |
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