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Prevalence of familial hypercholesterolemia and its association with coronary artery disease:A Chinese cohort study

Chronic Diseases and Translational Medicine 2023年第2期9卷 134-142页

作者： Xiapikatijiang Aihaiti Shufeng Chen Jianxin Li Zhennan Lin Qingmei Cui Xue Xia Fangchao Liu Chong Shen Dongsheng Hu Keyong Huang Yingxin Zhao Fanghong Lu Xiaoqing Liu Jie Cao Ling Yu Ying Li Huan Zhang Zhenyan Fu Liancheng Zhao Jianfeng Huang Dongfeng Gu Xiangfeng Lu Department of epidemiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingChina Key Laboratory of Cardiovascular epidemiology Chinese Academy of Medical Sciences&Peking Union Medical CollegeBeijingChina China National Clinical research Center for Neurological Diseases Beijing Tiantan Hospital Capital Medical UniversityBejingChina Department of epidemiology and Biostatistics Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjingJiangsuChina School of Public Health Zhengzhou UniversityZhengzhouHenanChina School of Public Health Shenzhen UniversityShenzhenGuangdongChina Cardio-Cerebrovascular Control and research Center Institute of Basic MedicineShandong Academy of Medical SciencesJinanShandongChina Division of epidemiology Guangdong Provincial People's Hospital Guangdong Cardiovascular InstituteGuangzhouGuangdongChina Department of Cardiology Fujian Provincial People's HospitalFuzhouFujianChina Center for genetic epidemiology and Genomics School of Public Health and Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric DiseasesSoochow University Medical CollegeSuzhouJiangsuChina Department of Cardiology First Affiliated Hospital of Xinjiang Medical UniversityUrumqiXinjiangChina School of Medicine Southern University of Science and TechnologyShenzhenGuangdongChina

Background:Familial hypercholesterolemia(FH)is underrecognized,and its association with coronary artery disease(CAD)remains limited,especially in *** aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese ***:FH was defined using the Make Early Diagnosis to Prevent Early Death(MEDPED)*** crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China(China-PAR)project during 2007−*** associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up(2018−2020).Results:Among 98,885 included participants,190 participants were defined as *** and age−sex standardized prevalence and 95%confidence interval(CI)of FH were 0.19%(0.17%-0.22%)and 0.13%(0.10%-0.16%),*** prevalence varied across age groups and peaked in the group of 60-<70 years(0.28%),and the peak prevalence(0.18%)in males was earlier,yet lower than the peak crude prevalence in females(0.41%).During a mean follow-up of 10.7 years,2493 cases of incident CAD were *** multivariate adjustment,FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH ***:The prevalence of FH was estimated to be 0.19%in the participants,and it was associated with an elevated risk of incident *** study suggests that early screening of FH has certain public health significance for the prevention of CAD.

关键词： cohort study coronary artery disease familial hypercholesterolemia prevalence

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Beyond familial risk: deriving risk-adapted starting ages of screening among people with a family history of colorectal cancer

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Cancer Communications 2023年第12期43卷 1377-1380页

作者： Xuechen Chen Thomas Heisser Rafael Cardoso Julia Hibbert Michael Hoffmeister Hermann Brenner Division of Clinical epidemiology and Aging research German Cancer Research Center (DKFZ) Heidelberg Germany Medical Faculty Heidelberg Heidelberg University Heidelberg Germany Division of Preventive Oncology German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany

Dear Editor,Colorectal cancer(CRC)is the third most common cancer globally[1],even though a large proportion of those cancers would be preventable by *** those with a family history(FH)of CRC,it is commonly recommended to start screening at younger ages,e.g.,at age 40 or 10 years younger than the age at diagnosis of the youngest affected first-degree relative[2–5].Even within the group of those with a FH,risk of CRC is not homogeneous and depends on factors such as the number of affected relatives and the age at which the relatives were diagnosed with CRC[6,7],lifestyles,and genetic background ***,these metrics except genetic factors may change over lifetime,which limits their use for defining starting ages of *** aim of this study was to evaluate whether a polygenic risk score(PRS),which combines information from CRC-related risk variants[8]and genetically determined sex(2 constant and established CRC risk factors),could effectively contribute to enhanced risk *** also aimed to determine if it could assist in defining risk-adapted starting ages for CRC screening,even in individuals with a FH of *** assessment was performed using the wellestablished metric of risk advancement periods(RAPs)[9],which measures the impact of an exposure on the relation of age to disease.

关键词： starting adapted younger

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Artificial Intelligence for Global Health: Difficulties and Challenges: A Narrative Review

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Open Journal of epidemiology 2024年第1期14卷 122-130页

作者： Nazia S. Sadat Maryam S. Shuttari Mir Sadat-Ali Department of Applied Nutrition University of New England Portland USA Department of US Consultancy for Applied research Lombard USA Department of Haifa Medical Center AlKhobar Saudi Arabia

Global health (GH) aims to improve healthcare for all people on the planet and eradicate all avoidable diseases and deaths. The inception of Artificial Intelligence (AI) is innovating healthcare practices and improving patient outcomes by shuffling enormous volumes of health data—from health records and clinical studies to genetic information analyzing it much faster than humans. AI also helps in the improvement of medical imaging and medical diagnosis. There is an increased optimism regarding the use of applications of AI locally but can these facets be translated globally in the advancement and delivery of healthcare with the help of AI. At present majority of AI developments and applications in health care provide to the needs of developed countries and there is little effort to develop programs which could help to improve healthcare delivery globally. We performed this narrative review to assess the difficulties and discrepancies in implementing AI in global health delivery and find ways to improve.

关键词： Artificial Intelligence Global Health Implementation Pitfalls

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Systematic analysis on expression quantitative trait loci identifies a novel regulatory variant in ring finger and WD repeat domain 3 associated with prognosis of pancreatic cancer

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Chinese Medical Journal 2022年第11期135卷 1348-1357页

作者： Ying Zhu Xiating Peng Xiaoyang Wang Pingting Ying Haoxue Wang Bin Li Yue Li Ming Zhang Yimin Cai Zequn Lu Siyuan Niu Nan Yang Rong Zhong Jianbo Tian Jiang Chang Xiaoping Miao Department of epidemiology and Biostatistics School of Public HealthWuhan UniversityWuhanHubei 430072China Department of epidemiology and Biostatistics Key Laboratory for Environment and HealthSchool of Public HealthTongji Medical CollegeHuazhong University of Sciences and TechnologyWuhanHubei 430030China.

Background:Pancreatic adenocarcinoma(PAAD)is an extremely lethal *** of the functional genes and genetic variants related to PAAD prognosis is important and *** identified prognostic genes from several expression profile analyses were *** regulatory genetic variants that affect PAAD prognosis were largely ***:Firstly,a meta-analysis was performed with seven published datasets to systematically explore the candidate prognostic genes for ***,to identify the regulatory variants for those candidate genes,expression quantitative trait loci analysis was implemented with PAAD data resources from The Cancer Genome ***,a two-stage association study in a total of 893 PAAD patients was conducted to interrogate the regulatory variants and find the prognostic ***,a series of biochemical experiments and phenotype assays were carried out to demonstrate the biological function of variation and genes in PAAD progression ***:A total of 128 genes were identified associated with the PAAD prognosis in the *** regulatory loci in 12 of the 128 genes were discovered,among which,only rs4887783,the functional variant in the promoter of Ring Finger and WD Repeat Domain 3(RFWD3),presented significant association with PAAD prognosis in both stages of the population *** reporter and electrophoretic mobility shift assays demonstrated that rs4887783-G allele,which predicts the worse prognosis,enhanced the binding of transcript factor REST,thus elevating RFWD3 *** phenotypic assays revealed that excess expression of RFWD3 promoted tumor cell migration without affecting their proliferation ***3 was highly expressed in PAAD and might orchestrate the genes in the DNA repair ***:RFWD3 and its regulatory variant are novel genetic factors for PAAD prognosis.

关键词： Pancreatic cancer Survival RFWD3 genetic variation Quantitative trait loci

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Investigating the Effect of Metabolic Phenotypes on Health Events in Alcoholic and Nonalcoholic Fatty Liver Disease

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Journal of Clinical and Translational Hepatology 2023年第3期11卷 525-533页

作者： Hong Fan Pengyan Zhang Zhenqiu Liu Renjia Zhao Chen Suo Xingdong Chen Tiejun Zhang Department of epidemiology School of Public HealthFudan UniversityKey Laboratory of Public Health Safety(Fudan Uni-versity)Ministry of EducationShanghaiChina Shanghai Institute of Infectious Disease and Biosecurity School of Public HealthFudan UniversityShanghaiChina State Key Laboratory of genetic Engineering Human Phenome Instituteand School of Life SciencesFudan UniversityShanghaiChina Fudan University Taizhou Institute of Health Sciences TaizhouZhejiangChina

Background and Aims:Metabolic dysfunction and obe-sity commonly coexist with both alcoholic and nonalcoholic fatty liver disease(AFLD and NAFLD).The association of AFLD and NAFLD with incident diseases in individuals with different metabolic phenotypes are ***:UK Biobank study participants were screened for the presence of fatty liver at *** mass index and metabolic dysfunction were used to define metabolic *** regression model was performed to examine the associations of AFLD and NAFLD with incident significant liver diseases(SLDs),cardiovascular diseases(CVDs),chronic kidney dis-eases(CKDs),and cancers,***:A total of 43,974 AFLD and 103,248 NAFLD cases were *** AFLD and NAFLD were associated with an increased risk of diseases of *** effects were amplified by obesity and metabolic abnormalities and modified by metabolic *** to individuals free of fatty liver and with phenotype of metabolically healthy-normal weight,AFLD[hazard ratio(HR 3.27;95%CI:1.95-5.47)]and NAFLD(HR 2.25;95%CI:1.28-3.94)cases with phenotype of met-abolically obese-normal weight had the greatest risk of *** CVDs,CKDs,and cancer,the greatest risks were detected in AFLD and NAFLD cases with phenotype of metabolically obese-overweight/*** this subpopulation,AFLD and NAFLD conferred a 2.75-fold(95%CI:2.32-3.25)and 4.02-fold 95%CI:(3.64-4.43)increased risk of CVDs,4.37-fold 95%CI:(3.38-5.64)and 6.55-fold 95%CI:(5.73-7.48)increased risk of CKDs,and 1.19-fold 95%CI:(1.08-1.27)and 1.21-fold 95%CI:(1.14-1.28)increased risk of cancers,***:Metabolic phenotypes modified the association of AFLD and NAFLD with intrahepatic and ex-trahepatic diseases.

关键词： AFLD NAFLD Obesity Metabolic dysfunction Metabolic phenotype

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Prostate cancer risk-associated genetic markers and their potential clinical utility

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Asian Journal of Andrology 2013年第3期15卷 314-322页

作者： Jianfeng Xu Jielin Sun S Lilly Zheng Fudan Institute of Urology Huashan Hospital Fudan University Shanghai 200040 China State Key Laboratory of genetic Engineering Fudan University Shanghai 200433 China Center for genetic epidemiology School of Life Sciences Fudan University Shanghai 200433 China Center for Cancer Genomics Wake Forest School of Medicine Winston-Salem NC 27157 USA

Prostate cancer （PCa） is one of the most common cancers among men in Western developed countries and its incidence has increased considerably in many other parts of the world, including China. The etiology of PCa is largely unknown but is thought to be multifactorial, where inherited genetics plays an important role. In this article, we first briefly review results from studies of familial aggregation and genetic susceptibility to PCa. We then recap key findings of rare and high-penetrance PCa susceptibility genes from linkage studies in PCa families. We devote a significant portion of this article to summarizing discoveries of common and Iow-penetrance PCa risk-associated single-nucleotide polymorphisms （SNPs） from genetic association studies in PCa cases and controls, especially those from genome-wide association studies （GWASs）. A strong focus of this article is to review the literature on the potential clinical utility of these implicated genetic markers. Most of these published studies described PCa risk estimation using a genetic score derived from multiple risk-associated SNPs and its utility in determining the need for prostate biopsy. Finally, we comment on the newly proposed concept of genetic score; the notion is to treat it as a marker for genetic predisposition, similar to family history, rather than a diagnostic marker to discriminate PCa patients from non-cancer patients. Available evidence to date suggests that genetic score is an objective and better measurement of inherited risk of PCa than family history. Another unique feature of this article is the inclusion of genetic association studies of PCa in Chinese and Japanese populations.

关键词： biopsy Chinese family history genetic score heritability prostate cancer (PCa) prostate-specific antigen (PSA) PSA screen singie-nucleotide polymorphisms (SNPs)

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Gene-diet interactions in gastric cancer risk: A systematic review

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World Journal of Gastroenterology 2014年第28期20卷 9600-9610页

作者： Jeongseon Kim Young Ae Cho Wook Jin Choi Seung Hwa Jeong Molecular epidemiology branch Division of Cancer Epidemiology and PreventionResearch InstituteNational Cancer Center

AIM:To conduct a systematic review of the published epidemiological studies investigating the association of the interactions between gene variants and dietary intake with gastric cancer ***:A literature search was conducted in PubMed,EMBASE,and MEDLINE for articles published between January 2000 and July 2013,and 38 studies were *** studies included various dietary factors(e.g.,fruits and vegetables,soybean products,salt,meat,and alcohol)and genetic variants that are involved in various metabolic ***:Studies suggest that individuals who carry high-risk genetic variants and demonstrate particular dietary habits may have an increased risk of gastric cancer compared with those who do not carry high-risk genetic *** dietary patterns and variations in the frequency of genetic variants may explain the higher incidence of gastric cancer in a particular ***,most previous studies have limitations,such as a small sample size and a retrospective casecontrol *** addition,past studies have been unable to elucidate the specific mechanism in gene-diet interaction associated with gastric ***:Additional large prospective epidemiological and experimental studies are required to identify the gene-diet metabolic pathways related to gastric cancer susceptibility.

关键词： Gastric cancer Gene Diet Interaction

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Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population

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Chinese Medical Journal 2023年第14期136卷 1671-1679页

作者： Yuanliang Gu Caiwang Yan Tianpei Wang Beiping Hu Meng Zhu Guangfu Jin Department of epidemiology School of Public HealthSoutheast UniversityNanjingJiangsu 210009China Department of epidemiology Center for Global HealthSchool of Public HealthNanjing Medical UniversityNanjingJiangsu 211166China Jiangsu Key Lab of Cancer Biomarkers Prevention and TreatmentCollaborative Innovation Center for Cancer Personalized Medicine and China International Cooperation Center for Environment and Human HealthNanjing Medical UniversityNanjingJiangsu 211166China Jiangsu Key Laboratory of Molecular and Translational Cancer research Jiangsu Cancer HospitalJiangsu Institute of Cancer ResearchThe Affiliated Cancer Hospital of Nanjing Medical UniversityNanjingJiangsu 210009China

Background:A polygenic risk score(PRS)derived from 112 single-nucleotide polymorphisms(SNPs)for gastric cancer has been reported in Chinese populations(PRS-112).However,its performance in other populations is unknown.A functional PRS(fPRS)using functional SNPs(fSNPs)may improve the generalizability of the PRS across populations with distinct ***:We performed functional annotations on SNPs in strong linkage disequilibrium(LD)with the 112 previously reported SNPs to identify fSNPs that affect protein-coding or transcriptional ***,we constructed an fPRS based on the fSNPs by using the LDpred2-infinitesimal model and then analyzed the performance of the PRS-112 and fPRS in the risk prediction of gastric cancer in 457,521 European participants of the UK Biobank ***,the performance of the fPRS in combination with lifestyle factors were evaluated in predicting the risk of gastric ***:During 4,582,045 person-years of follow-up with a total of 623 incident gastric cancer cases,we found no significant association between the PRS-112 and gastric cancer risk in the European population(hazard ratio[HR]=1.00[95%confidence interval(CI)0.93–1.09],P=0.846).We identified 125 fSNPs,including seven deleterious protein-coding SNPs and 118 regulatory non-coding SNPs,and used them to construct the *** result showed that the fPRS-125 was significantly associated with gastric cancer risk(HR=1.11[95%CI,1.03–1.20],P=0.009).Compared to participants with a low fPRS-125(bottom quintile),those with a high fPRS-125(top quintile)had a higher risk of incident gastric cancer(HR=1.43[95%CI,1.12–1.84],P=0.005).Moreover,we observed that participants with both an unfavorable lifestyle and a high genetic risk had the highest risk of incident gastric cancer(HR=4.99[95%CI,1.55–16.10],P=0.007)compared to those with both a favorable lifestyle and a low genetic ***:These results indicate that the fPRS-125 derived from fSNPs may act

关键词： Polygenic risk score Gastric cancer Polymorphism,single nucleotide Cross ancestry

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Ancylostoma ceylanicum and other zoonotic canine hookworms:neglected public and animal health risks in the Asia-Pacific region

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Animal Diseases 2024年第1期4卷 59-74页

作者： Jan Clyden B.Tenorio lan Kim B.Tabios Tawin Inpankaew Adrian P.Ybanez Saruda Tiwananthagorn Sirikachorn Tangkawattana Sutas Suttiprapa Tropical Medicine Graduate Program Faculty of MedicineKhon Kaen UniversityKhon Kaen 40002Thailand Department of Tropical Medicine Faculty of MedicineKhon Kaen UniversityKhon Kaen 40002Thailand WHO Collaborating Center for research and Control of Opisthorchiasis(Southeast Asian Liver Fluke Disease) Tropical Disease Research CenterKhon Kaen UniversityKhon Kaen 40002Thailand Department of Veterinary Paraclinical Sciences College of Veterinary MedicineUniversity of Southern MindanaoKabacan9407 CotabatoPhilippines Institute of Biology College of ScienceUniversity of the Philippines DilimanManila 1101Philippines Department of Parasitology Faculty of Veterinary MedicineKasetsart UniversityBangkok 10900Thailand College of Veterinary Medicine at Barili Campus and Center for Vector-Borne and Protozoan Diseases at Main Campus Cebu Technological UniversityCebu City 6000Philippines Department of Veterinary Biosciences and Public Health Faculty of Veterinary MedicineChiang Mai UniversityChiang Mai 50100Thailand research Center for Veterinary Biosciences and Veterinary Public Health Chiang Mai UniversityChiang Mai 50100Thailand Faculty of Veterinary Medicine Khon Kaen University.Khon Kaen 40002Thailand

Zoonotic hookworm infections remain a significant public health problem,causing nearly 500 milion cases globally and approximately four million disability-adjusted life years lost *** than one-fth of these cases are attrib-uted to Ancylostoma ceylanicum,an emerging zoonotic health issue in the Asia-Pacific *** review presents key research gaps regarding the epidemiology,diagnosis,control,prevention and elimination of *** and other canine zoonotic hookworms as neglected health *** is the second most prevalent human hook-worm in the region;it is the most common hookworm among dogs and cats-reservoirs of zoonotic *** population genetic and phylogenetic analyses revealed that *** has three possible transmis-sion dynamics:zoonotic,animal-only,and human-only *** actual burden of zoonotic ancylostomiasis in most endemic countries remains unknown due to the use of parasitological techniques(e.g.,Kato-Katz thick smear and floatation techniques)that have reduced diagnostic performance and do not allow accurate species identifica-tion in helminth *** emergence of benzimidazole resistance in soil-transmitted helminths(STHs),includ-ing hookworms,is a concern due to the protracted implementation of mass drug administration(MDA).Resistance is conferred by single nucleotide polymorphisms(SNPs)that occur in theβ-tubulin isotype 1 *** mutations have been reported in drug-resistant *** but have not been found in *** in the *** remains understudied in the Asia-Pacific *** zoonotic nature of the parasite warrants investigation of its occur-rence in human and animal reservoir hosts to understand the dynamics of zoonotic transmission in different endemic *** detection of benzimidazole resistance-associated SNPs in zoonotic hookworms from Asia-Pacific countries has yet to be thoroughly *** the high level of hookworm endemicity in the region

关键词： Soil-transmitted helminths Neglected tropical diseases Mass drug administration Deworming Veterinary public health

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Contribution of pancreatic enzyme replacement therapy to survival and quality of life in patients with pancreatic exocrine insufficiency

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World Journal of Gastroenterology 2019年第20期25卷 2430-2441页

作者： Peter Layer Nataliya Kashirskaya Natalya Gubergrits Department of Internal Medicine Israelitic HospitalHamburg 22297Germany Department of genetic epidemiology (Cystic Fibrosis group) Federal State Budgetary Institution “Research Centre for Medical Genetics”Moscow 115522Russia Department of Internal Medicine Donetsk National Medical UniversityLyman 83001Ukraine

The objective of this study was to analyze the current evidence for the use of pancreatic enzyme replacement therapy (PERT) in affecting survival and quality of life in patients with pancreatic exocrine insufficiency (PEI). Systematic searches of the literature were performed using the PubMed database. Articles were selected for inclusion if they reported findings from trials assessing the effects of PERT on quality of life, survival, malabsorption, growth parameters (such as height, body weight and body mass index), or gastrointestinal symptoms (such as abdominal pain, stool consistency and flatulence). PERT improved PEI-related malabsorption and weight maintenance in patients with cystic fibrosis, chronic pancreatitis, pancreatic cancer, and post-surgical states. In patients with chronic pancreatitis, PERT improved PEI-related symptoms and quality of life measures. Several small retrospective studies have also suggested that PERT may have a positive impact on survival, but long-term studies assessing this effect were not identified. PERT is effective for treating malnutrition and supporting weight maintenance, and it is associated with improved quality of life and possibly with enhanced survival in patients with PEI. However, there is evidence that not all patients with PEI receive adequate PERT. Future work should aim to assess the long-term effects of PERT on the survival of patients with PEI.

关键词： Pancreatic exocrine insufficiency Pancreatic enzyme replacement therapy Survival Quality of life Malabsorption Cystic fibrosis Chronic pancreatitis Pancreatic cancer Post-surgical states

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