1.Rapid Analysis of Cyanide Based on a Ratiometric Fluorescent Probe Using Gold Nanoclusters-Fluorescein
Tai-Shen HE ; Zhong-Jiang LÜ ; Yi-Ming SUN ; Yu-Yang LI ; Yi YE ; Yao LIN ; Lin-Chuan LIAO
Journal of Forensic Medicine 2025;41(4):340-347
Objective To establish a rapid analysis method for cyanide based on a ratiometric fluores-cent probe,providing a quantitative strategy for on-site visual and rapid detection of cyanide.Methods A dual-emission ratiometric fluorescent probe(AuNCs-FL)was constructed by using bovine serum al-bumin(BSA)-stabilized gold nanoclusters(AuNCs,fluorescence emission at 660 nm)as the responsive signal unit and fluorescein(FL,emission at 515 nm)as the internal reference.Results The etching effect of cyanide on AuNCs resulted in fluorescence quenching at 660 nm,while the fluorescence inten-sity of FL at 515 nm remained unchanged,enabling a rapid response analysis of cyanide shift from red to green fluorescence.The developed probe enabled rapid analysis of cyanide within 3 min,with a limit of detection(LOD)of 3.4 mg/L and a visual detection range of 10-100 mg/L.Conclusion The AuNCs-FL fluorescent probe is structurally simple,low-cost,and easy to operate,delivering rapid and accurate results.It also avoids the interference from sulfides encountered in commercial cyanide test kits,making it suitable for the on-site rapid detection of suspected powder samples in cyanide poisoning cases.
2.Research on the development of entrustable professional activity indicators for residents in China: a systematic review
Jingyu ZHONG ; Yue XING ; Liangjing LÜ ; Qinghua MIN ; Zhengguang XIAO ; Caisong ZHU ; Dandan SHI ; Xiaoyu FAN ; Jingshen CHU ; Huan ZHANG ; Yi JIANG ; Weiwu YAO
Chinese Journal of Medical Education Research 2025;24(6):728-735
Objective:To systematically evaluate the current status of research on the development of indicators for entrustable professional activities (EPAs) of residents in China.Methods:We searched the China National Knowledge Infrastructure, Wanfang Data, Airiti Library, PubMed, Embase, and Web of Science databases for literature on the development of EPA indicators for residents in China published between January 1, 2005 and February 28, 2025. Two researchers independently screened the literature and extracted data, followed by descriptive analysis. The quality of the studies was assessed using the Joanna Briggs Institute critical appraisal tool for expert opinion. Quantitative data were presented as medians (ranges) and qualitative data were presented as frequencies (percentages).Results:A total of eight articles were included, in which two general EPA indicator systems and six specialty-specific EPA indicator systems were developed for residents. The overall quality of the research was high, with the main shortcomings related to the methods used in the process of constructing the consensus indicators. The number of experts recruited ranged from 22 to 45, with 100.00% response rate, high authority coefficients (0.820-0.914), and high coordination coefficients (0.157-0.741). Most of the studies used literature reviews as one source for the indicator pool (8 studies, 100.00%), employed the Delphi method to reach consensus (6 studies, 75.00%), and provided inclusion criteria for the indicators (7 studies, 87.50%). However, only one study (12.50%) explored the practical application of the developed indicators, and none of the studies set indicator weights or conducted quality assessments. The number of EPA indicators developed ranged from 10 to 38 per study. The reporting of EPA indicators was included in most studies regarding titles (8 studies, 100.00%) and the expected levels of entrustment at various stages of training (6 studies, 75.00%), but the reporting on other aspects was lacking. Among the specialty-specific EPA indicators, 38.39% overlapped with the general EPAs indicators.Conclusions:The research on the development of EPA indicators for residents in China is still in its early stages, and there is room for improvement in methodological quality and reporting coverage. There is partial overlap between specialty-specific and general EPA indicators, failing to fully reflect the unique characteristics of different specialties.
3.Research on the development of entrustable professional activity indicators for residents in China: a systematic review
Jingyu ZHONG ; Yue XING ; Liangjing LÜ ; Qinghua MIN ; Zhengguang XIAO ; Caisong ZHU ; Dandan SHI ; Xiaoyu FAN ; Jingshen CHU ; Huan ZHANG ; Yi JIANG ; Weiwu YAO
Chinese Journal of Medical Education Research 2025;24(6):728-735
Objective:To systematically evaluate the current status of research on the development of indicators for entrustable professional activities (EPAs) of residents in China.Methods:We searched the China National Knowledge Infrastructure, Wanfang Data, Airiti Library, PubMed, Embase, and Web of Science databases for literature on the development of EPA indicators for residents in China published between January 1, 2005 and February 28, 2025. Two researchers independently screened the literature and extracted data, followed by descriptive analysis. The quality of the studies was assessed using the Joanna Briggs Institute critical appraisal tool for expert opinion. Quantitative data were presented as medians (ranges) and qualitative data were presented as frequencies (percentages).Results:A total of eight articles were included, in which two general EPA indicator systems and six specialty-specific EPA indicator systems were developed for residents. The overall quality of the research was high, with the main shortcomings related to the methods used in the process of constructing the consensus indicators. The number of experts recruited ranged from 22 to 45, with 100.00% response rate, high authority coefficients (0.820-0.914), and high coordination coefficients (0.157-0.741). Most of the studies used literature reviews as one source for the indicator pool (8 studies, 100.00%), employed the Delphi method to reach consensus (6 studies, 75.00%), and provided inclusion criteria for the indicators (7 studies, 87.50%). However, only one study (12.50%) explored the practical application of the developed indicators, and none of the studies set indicator weights or conducted quality assessments. The number of EPA indicators developed ranged from 10 to 38 per study. The reporting of EPA indicators was included in most studies regarding titles (8 studies, 100.00%) and the expected levels of entrustment at various stages of training (6 studies, 75.00%), but the reporting on other aspects was lacking. Among the specialty-specific EPA indicators, 38.39% overlapped with the general EPAs indicators.Conclusions:The research on the development of EPA indicators for residents in China is still in its early stages, and there is room for improvement in methodological quality and reporting coverage. There is partial overlap between specialty-specific and general EPA indicators, failing to fully reflect the unique characteristics of different specialties.
4.Distribution and antimicrobial resistance profiles of clinical isolates from blood samples:results from China Antimicrobial Surveillance Network (CHINET) from 2015 to 2021
Min ZHONG ; Xiangning HUANG ; Hua YU ; Yang YANG ; Fupin HU ; Demei ZHU ; Yi XIE ; Mei KANG ; Shanmei WANG ; Yafei CHU ; Wenen LIU ; Yanming LI ; Dawen GUO ; Jinying ZHAO ; Yuanhong XU ; Ying HUANG ; Yunzhuo CHU ; Sufei TIAN ; Ziyong SUN ; Zhongju CHEN ; Yunsong YU ; Jie LIN ; Jihong LI ; Yingchun XU ; Xiaojiang ZHANG ; Hui LI ; Ping JI ; Fang DONG ; Zhiyong LÜ ; Han SHEN ; Wanqing ZHOU ; Sufang GUO ; Zhidong HU ; Jin LI ; Chuanqing WANG ; Pan FU ; Hong ZHANG ; Chun WANG ; Chao ZHUO ; Danhong SU ; Bin SHAN ; Yan DU ; Lixia ZHANG ; Juan MA ; Yuxing NI ; Jingyong SUN ; Jinju DUAN ; Jianbang KANG ; Yan JIN ; Chunhong SHAO ; Wei JIA ; Gang LI ; Xuesong XU ; Chao YAN ; Yunjian HU ; Xiaoman AI ; Jinsong WU ; Yuemei LU ; Fangfang HU ; Lianhua WEI ; Fengmei ZOU ; Lei ZHU ; Jinhua MENG ; Shuping ZHOU ; Yan ZHOU ; Shifu WANG ; Xiaobo MA ; Yanping ZHENG ; Kaizhen WEN ; Yirong ZHANG ; Yunsheng CHEN ; Qing MENG ; Xuefei HU ; Ruizhong WANG ; Hua FANG ; Ruyi GUO ; Yan ZHU ; Jilu SHEN ; Wenhui HUANG ; Bixia YU ; Jiao FENG ; Yong ZHAO ; Ping GONG ; Shunhong XUE ; Hongqin GU ; Wen HE ; Jiangshan LIU ; Chunlei YUE ; Longfeng LIAO ; Lin JIANG
Chinese Journal of Infection and Chemotherapy 2024;24(6):664-677
Objective To investigate the distribution and antimicrobial resistance of bacterial isolates from blood samples in the hospitals participating in China Antimicrobial Surveillance Network (CHINET) from 2015 to 2021.Methods Bacterial strains isolated from blood samples were collected from 52 medical centers participating in CHINET from 2015 to 2021 for analysis of bacetrial distribution and antimicrobial resistance.Results A total of 153591 isolates were collected,48.8% of which were gram-positive bacteria and 51.2% were gram-negative bacteria.The top five bacterial strains were coagulase negative Staphylococcus (28.2%),Escherichia coli (20.7%),Klebsiella (13.7%),Enterococcus (7.2%),and Staphylococcus aureus (6.6%).Compard to female patients,male patients showed lower proportion of E.coli and higher proportions of other bacterial species in all the bacterial isolaets from blood samples.The proportions of Streptococcus pneumoniae and Salmonella in all the bacterial isolaets from blood samples were higher in children compared to adults.Enterobacterales species showed various resistance rates to antimicrobial agents.Overall,≥58.0%,≥36.8% and ≥56.8% of E.coli strains were resistant to cefotaxime,gentamicin and levofloxacin respectively over the 7-year period.However,less than 2.5% of the E.coli strains were resistant to carbapenems.K.pneumoniae showed higher resistance rates to imipenem and meropenem than other Enterobacterales species.During the 7-year period,the prevalence of imipenem-resistant and meropenem-resistant K.pneumoniae increased from 21.4% and 19.9% in 2015 to 25.7% and 26.6% in 2021,respectively.However,carbapenems still maintained good antibacterial activity against other Enterobacterales,associaetd with lower resistance rates.In the 7-year period,Acinetobacter baumannii showed a dwonward trend in the resistance rates to imipenem and meropenem,but remained 72.9% and 73.2% respectively in 2021.The prevalence of imipenem-resistant and meropenem-resistant P.aeruginosa decreased from 26.7% and 22.9% in 2015 to 18.5% and 14.7% in 2021,respectively.The prevalence of PRSP was 1.5% in the isolaets from adults and and 0.8% in the isolates from children.Less than 3.0% of the Enterococcus faecium and Enterococcus faecalis strains were resistant to vancomycin,teicolanin,or linezolid.The prevalence of methicillin-resistant S.aureus (MRSA) and coagulase negative Staphylococcus (MRCNS) was 32.1% and 81.0%,respectively.The prevalence of MRSA was relatively stable,28.5% in 2015 and 28.0% in 2021.Conclusions Coagulase negative Staphylococcus,E.coli and K.pneumoniae were the main bacterial species isolated from blood samples in the hospitals participaing in the CHINET from 2015 to 2021.Significant sex and age differences were found in the distribution of bcterial isolates from blood samples.The overall resistance rates of the top bacetrial strains from blood samples to antimicrobial agents showed a downward trend.Ongoing surveillance of antimicrobial resistance for the isolates from blood samples is still essential for prescribing rational antimicrobial therapies and curbing bacterial resistance.
5.Distribution and antimicrobial resistance profiles of clinical isolates from blood samples:results from China Antimicrobial Surveillance Network (CHINET) from 2015 to 2021
Min ZHONG ; Xiangning HUANG ; Hua YU ; Yang YANG ; Fupin HU ; Demei ZHU ; Yi XIE ; Mei KANG ; Shanmei WANG ; Yafei CHU ; Wenen LIU ; Yanming LI ; Dawen GUO ; Jinying ZHAO ; Yuanhong XU ; Ying HUANG ; Yunzhuo CHU ; Sufei TIAN ; Ziyong SUN ; Zhongju CHEN ; Yunsong YU ; Jie LIN ; Jihong LI ; Yingchun XU ; Xiaojiang ZHANG ; Hui LI ; Ping JI ; Fang DONG ; Zhiyong LÜ ; Han SHEN ; Wanqing ZHOU ; Sufang GUO ; Zhidong HU ; Jin LI ; Chuanqing WANG ; Pan FU ; Hong ZHANG ; Chun WANG ; Chao ZHUO ; Danhong SU ; Bin SHAN ; Yan DU ; Lixia ZHANG ; Juan MA ; Yuxing NI ; Jingyong SUN ; Jinju DUAN ; Jianbang KANG ; Yan JIN ; Chunhong SHAO ; Wei JIA ; Gang LI ; Xuesong XU ; Chao YAN ; Yunjian HU ; Xiaoman AI ; Jinsong WU ; Yuemei LU ; Fangfang HU ; Lianhua WEI ; Fengmei ZOU ; Lei ZHU ; Jinhua MENG ; Shuping ZHOU ; Yan ZHOU ; Shifu WANG ; Xiaobo MA ; Yanping ZHENG ; Kaizhen WEN ; Yirong ZHANG ; Yunsheng CHEN ; Qing MENG ; Xuefei HU ; Ruizhong WANG ; Hua FANG ; Ruyi GUO ; Yan ZHU ; Jilu SHEN ; Wenhui HUANG ; Bixia YU ; Jiao FENG ; Yong ZHAO ; Ping GONG ; Shunhong XUE ; Hongqin GU ; Wen HE ; Jiangshan LIU ; Chunlei YUE ; Longfeng LIAO ; Lin JIANG
Chinese Journal of Infection and Chemotherapy 2024;24(6):664-677
Objective To investigate the distribution and antimicrobial resistance of bacterial isolates from blood samples in the hospitals participating in China Antimicrobial Surveillance Network (CHINET) from 2015 to 2021.Methods Bacterial strains isolated from blood samples were collected from 52 medical centers participating in CHINET from 2015 to 2021 for analysis of bacetrial distribution and antimicrobial resistance.Results A total of 153591 isolates were collected,48.8% of which were gram-positive bacteria and 51.2% were gram-negative bacteria.The top five bacterial strains were coagulase negative Staphylococcus (28.2%),Escherichia coli (20.7%),Klebsiella (13.7%),Enterococcus (7.2%),and Staphylococcus aureus (6.6%).Compard to female patients,male patients showed lower proportion of E.coli and higher proportions of other bacterial species in all the bacterial isolaets from blood samples.The proportions of Streptococcus pneumoniae and Salmonella in all the bacterial isolaets from blood samples were higher in children compared to adults.Enterobacterales species showed various resistance rates to antimicrobial agents.Overall,≥58.0%,≥36.8% and ≥56.8% of E.coli strains were resistant to cefotaxime,gentamicin and levofloxacin respectively over the 7-year period.However,less than 2.5% of the E.coli strains were resistant to carbapenems.K.pneumoniae showed higher resistance rates to imipenem and meropenem than other Enterobacterales species.During the 7-year period,the prevalence of imipenem-resistant and meropenem-resistant K.pneumoniae increased from 21.4% and 19.9% in 2015 to 25.7% and 26.6% in 2021,respectively.However,carbapenems still maintained good antibacterial activity against other Enterobacterales,associaetd with lower resistance rates.In the 7-year period,Acinetobacter baumannii showed a dwonward trend in the resistance rates to imipenem and meropenem,but remained 72.9% and 73.2% respectively in 2021.The prevalence of imipenem-resistant and meropenem-resistant P.aeruginosa decreased from 26.7% and 22.9% in 2015 to 18.5% and 14.7% in 2021,respectively.The prevalence of PRSP was 1.5% in the isolaets from adults and and 0.8% in the isolates from children.Less than 3.0% of the Enterococcus faecium and Enterococcus faecalis strains were resistant to vancomycin,teicolanin,or linezolid.The prevalence of methicillin-resistant S.aureus (MRSA) and coagulase negative Staphylococcus (MRCNS) was 32.1% and 81.0%,respectively.The prevalence of MRSA was relatively stable,28.5% in 2015 and 28.0% in 2021.Conclusions Coagulase negative Staphylococcus,E.coli and K.pneumoniae were the main bacterial species isolated from blood samples in the hospitals participaing in the CHINET from 2015 to 2021.Significant sex and age differences were found in the distribution of bcterial isolates from blood samples.The overall resistance rates of the top bacetrial strains from blood samples to antimicrobial agents showed a downward trend.Ongoing surveillance of antimicrobial resistance for the isolates from blood samples is still essential for prescribing rational antimicrobial therapies and curbing bacterial resistance.
6.Analysis of the new WHO guideline to accelerate the progress towards elimination of schistosomiasis in China.
Zhao Yu GUO ; Jia Xin FENG ; Li Juan ZHANG ; Yi Biao ZHOU ; Jie ZHOU ; Kun YANG ; Yang LIU ; Dan Dan LIN ; Jian Bing LIU ; Yi DONG ; Tian Ping WANG ; Li Yong WEN ; Min Jun JI ; Zhong Dao WU ; Qing Wu JIANG ; Song LIANG ; Jia Gang GUO ; Chun Li CAO ; Jing XU ; Shan LÜ ; Shi Zhu LI ; Xiao Nong ZHOU
Chinese Journal of Schistosomiasis Control 2022;34(3):217-222
On February 2022, WHO released the evidence-based guideline on control and elimination of human schistosomiasis, with aims to guide the elimination of schistosomiasis as a public health problem in disease-endemic countries by 2030 and promote the interruption of schistosomiasis transmission across the world. Based on the One Health concept, six evidence-based recommendations were proposed in this guideline. This article aims to analyze the feasibility of key aspects of this guideline in Chinese national schistosomiasis control program and illustrate the significance to guide the future actions for Chinese national schistosomiasis control program. Currently, the One Health concept has been embodied in the Chinese national schistosomiasis control program. Based on this new WHO guideline, the following recommendations are proposed for the national schistosomiasis control program of China: (1) improving the systematic framework building, facilitating the agreement of the cross-sectoral consensus, and building a high-level leadership group; (2) optimizing the current human and livestock treatments in the national schistosomiasis control program of China; (3) developing highly sensitive and specific diagnostics and the framework for verifying elimination of schistosomiasis; (4) accelerating the progress towards elimination of schistosomiasis and other parasitic diseases through integrating the national control programs for other parasitic diseases.
China/epidemiology*
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Disease Eradication
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Humans
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Public Health
;
Schistosomiasis/prevention & control*
;
World Health Organization
7.Contribution to global implementation of WHO guideline on control and elimination of human schistosomiasis by learning successful experiences from the national schistosomiasis control program in China.
Xin Yao WANG ; Jian Feng ZHANG ; Jia Gang GUO ; Shan LÜ ; Min Jun JI ; Zhong Dao WU ; Yi Biao ZHOU ; Qing Wu JIANG ; Jie ZHOU ; Jian Bing LIU ; Dan Dan LIN ; Tian Ping WANG ; Yi DONG ; Yang LIU ; Shi Zhu LI ; Kun YANG
Chinese Journal of Schistosomiasis Control 2022;34(3):230-234
Schistosomiasis is a parasitic disease that seriously hinders socioeconomic developments and threatens public health security. To achieve the global elimination of schistosomiasis as a public health problem by 2030, WHO released the guideline on control and elimination of human schistosomiasis on February, 2022, with aims to provide evidence-based recommendations for schistosomiasis morbidity control, elimination of schistosomiasis as a public health problem, and ultimate interruption of schistosomiasis transmission in disease-endemic countries. Following concerted efforts for decades, great achievements have been obtained for schistosomiasis control in China where the disease was historically highly prevalent, and the country is moving towards schistosomiasis elimination. This article reviews the successful experiences from the national schistosmiasis control program in China, and summarizes their contributions to the formulation and implementation of the WHO guideline on control and elimination of human schistosomiasis. With the progress of the "Belt and Road" initiative, the world is looking forward to more China's solutions on schistosomiasis control.
China/epidemiology*
;
Disease Eradication
;
Humans
;
Public Health
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Schistosomiasis/prevention & control*
;
World Health Organization
8.Clinical value of transient elastography (FibroScan) in detection of clonorchiasis
Bin ZHONG ; Jian-Lin WU ; Xiao-Lin WAN ; Guo-Li LÜ ; Wen-Qian TANG ; Zhi-Hua JIANG
Chinese Journal of Schistosomiasis Control 2019;31(3):319-322
Objective To assess the clinical significance of transient elastography (Fibroscan) in detection of clonorchiasis, so as to provide new insights into the assessment of therapeutic efficacy of deworming. Methods The liver stiffness measurement (LSM) values were measured in parasitologically diagnosed clonorchiasis patients using FibroScan before and after deworming, and the patients’age, gender, body mass index (BMI), duration of raw fish consumption and total amount of raw fish consumption were collected for correlation analyses. Results The clonorchiasis patients’age, gender, BMI, duration of raw fish consumption and total amount of raw fish consumption had no associations with pre-treatment LSM values (r/rs = 0.189, 0.073, 0.180; 0.071, –0.098, 0.033; 0.166, 0.309, 0.172; 0.235, 0.247, 0.209; 0.164, 0.277, 0.088; all P values > 0.05). There was a significant difference in the LSM values from the seventh, eighth and ninth intercostal space prior to deworming (F = 3.259, P < 0.05), and no significant difference was detected after deworming (F = 0.851, P > 0.05). The LSM values from the seventh, eighth and ninth intercostal space were significantly lower pre-deworming than post-deworming (t = 6.724, 5.603, 2.884; all P values < 0.05). Conclusion FibroScan is feasible to assess the therapuetic efficacy of deworming in patients with clonorchiasis; however, measurement at various sites affects the LSM value.
9.Evaluation of malaria elimination surveillance in Liyang City from 2010 to 2016
Xiao-mei HUANG ; Lai-fu LÜ ; Wei-ming WANG ; Shi-ying ZHU ; Li-zhong HUANG ; Liang JIANG
Chinese Journal of Schistosomiasis Control 2018;30(5):559-562
Objective To evaluate the effect of malaria elimination monitoring in Liyang City, so as to provide the evidence for formulating control strategies and measures of malaria elimination. Methods The monitoring data about the epidemic situation, blood tests of feverish patients and epidemiology investigation of individual malaria patients in Liyang City from 2010 to 2016 were collected and analyzed by the descriptive epidemiology method. Results From 2010 to 2016, there were 67 malaria cases in total. Totally 39 196 feverish patients had blood tests for Plasmodium, and 65 of them showed positive and the positive rate was 0.17%. The other 2 cases of microscopy negative were treated with anti-malarial drugs by themselves after the onset of fever, and no Plasmodium was detected in the microscopy, but the tests with malaria rapid diagnostic kit (RDTs) were positive. Among all the 67 cases, there were 49 falciparum malaria cases, 13 ovale malaria cases and 5 vivax malaria cases. All the 67 malaria cases were imported, and the number of cases from Africa was 63 (94.03%). Totally 97.01% (65/67) of the malaria patients were male and most of them were young adults. The patients aged 30 to 49 years accounted for 73.13% (49/67) and 80.60% (54/67) of them were farmers. There were malaria cases in all the 10 towns of the city, and the time of onset had no obvious seasonal characteristics. The timely rate of case report, timely rate of blood film review, standardized treatment rate, epidemiological case investigation rate, and epidemic focus investigation and disposal rate were all 100%. There were 18 076 people with the active case investigation, but no malaria parasite positive carriers were found. The mosquito vector monitoring was performed with the methods of mosquito trap lamp and human bait half night trap, and 187 and 78 Anopheles mosquitoes were captured respectively, and all the parasites were Anopheles sinensis. A total of 88 person-times were performed for the Plasmodium examinations with microscopy and RDTs (one blood sample, two detections) in Liyang City Center for Disease Prevention and Control from 2012 to 2016, and 35 person-times were positive, including 28 person-times of Plasmodium falciparum and 7 person-times of P. ovale, and there was no statistically significant difference between the detection rates of P. falciparum, and P. ovale (adjusted χ2 = 0.05, P > 0.05). There were 34 RDTs positive cases, including 14 cases of malignant malaria, and 17 cases of malignant malaria or mixed infections of P. falciparum with other three kinds of Plasmodium parasites, and 3 cases of single infection or mixed infections of other three kinds of Plasmodium parasites, and there was a statistically significant difference among them in the positive RDTs detection rates (adjusted χ2 = 13.75, P < 0.05). Conclusions There are still imported malaria cases and there is the risk of malaria retransmission in Liyang City. Therefore, it is necessary to strengthen the malaria surveillance work and the management of infectious sources, so as to consolidate the achievements of malaria elimination in the future.
10.Polymorphism rs738409 in PNPLA3 is associated with inherited susceptibility to non-alcoholic fatty liver disease.
Jing XU ; Yong-ning XIN ; Wei-hong LÜ ; Zhong-hua LIN ; Ding-ding ZHANG ; Mei ZHANG ; Quan-jiang DONG ; Xiang-jun JIANG ; Shi-ying XUAN
Chinese Journal of Hepatology 2013;21(8):619-623
OBJECTIVETo study the relationship between the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene and hereditary susceptibility to non-alcoholic fatty liver disease (NAFLD) by detecting single nucleotide polymorphisms (SNPs).
METHODSPeripheral blood DNA from 315 patients diagnosed with NAFLD (including the spectrum of simple steatosis (SS) and non-alcoholic steatosis (NASH)) and 336 control subjects was used to determine the PNPLA3 genotype by polymerase chain reaction (PCR) and direct sequencing. The relationship of SNPs and NAFLD-related markers of liver function were assessed by correlation analysis.
RESULTSThe SNP rs738409 was identified in more of the NAFLD patients (allele variant frequencies: NAFLD, 65.40%; NASH: 71.87%; SS, 56.47%) than in the controls (33.18%). Case-control analysis revealed that carriers of the 148GG genotype were at 3.81-fold (95% CI: 3.03 ~ 4.79) higher risk of developing NAFLD and at 1.97-fold (95% CI: 1.41 ~ 2.75) higher risk of progressing from SS to NASH, compared with non-carriers. rs738409 was also found to be associated with serum levels of alanine aminotransferase (ALT) and y-glutamyltransferase (y-GT) (both P less than 0.05). Carriers of the 148GG genotype had significantly higher body mass index, ALT, and fasting insulin than carriers of the 148CC genotype (all P less than 0.05), and significantly higher level of serum HDL than carriers of either the 148CC genotype or the 148GC genotype (both P less than 0.05).
CONCLUSIONPolymorphisms in the PNPLA3 gene may play an important role in mediating susceptibility to developing NAFLD in the Chinese population. The rs738409 polymorphism, in particular, is related to development and progression of NAFLD and may play a role in the contribution of PNPLA3 to NAFLD pathogenesis.
Adolescent ; Adult ; Aged ; Alleles ; Case-Control Studies ; Fatty Liver ; genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Lipase ; genetics ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Non-alcoholic Fatty Liver Disease ; Polymorphism, Single Nucleotide ; Young Adult

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