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Impact of socioeconomic and health-related factors on consumption of homeopathic and natural remedies in Spain in 2006, 2011 and 2017

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Journal of Integrative Medicine 2022年第1期20卷 52-56页

作者： Jose Antonio Castilla-Jimena Isabel Ruiz-Perez Jesus Henares-Montiel Andalusian School of public health 1801J GranadaSpain Unit of Clinical Management of Preventive Medicine and public health and Occupational Medicine Puerto del Mar University Hospital11009 CadizSpain consortium for networked biomedical research in epidemiology and public health 28029 MadridSpain Institute for Biosanitary research(ibs.GRANADA) 18012 GranadaSpain

Objective: Complementary and alternative medicine use and type of use may be influenced by sociodemographic and economic determinants through which we could identify characteristics of patients with greater trend to use it. This paper aims to describe the changes in the consumption of homeopathic and natural remedies in Spain for three time points in order to discern changes in rate of consumption, associated factors and whether their use has been affected by a period of economic recession.Methods: This study utilized 2006, 2011 and 2017 cross-sectional data from the Spanish National health Survey, a nationally representative survey of the population aged more than 15 years old and resident in Spain. Independent bivariate and multivariate descriptive analyses for each of the 3 years studied were performed.Results: The rate of consumption of both homeopathic and natural remedies has decreased over the periods studied. In spite of this decrease, the consumer profile appears to remain stable over the three periods. The sociodemographic factors associated with their consumption were being female, being 30–64 years old, being separated/divorced, having higher education qualifications, being employed and belonging to a higher social class. Psychiatric morbidity, chronic health problems such as pain, mental health problems or malignant tumors, and absence of major cardiovascular events were the clinical factors associated.Conclusion: It can be concluded that beyond the economic situation, the use of homeopathic and natural remedies obeys to the needs of the patients related to their state of health and the response they receive from the health system. It may be that women have different needs and expectations of the healthcare system and, given this breach of expectations, seek remedy to alleviate their needs outside the system and conventional medicine.

关键词： Complementary and alternative medicine Homeopathic remedies Natural remedies Economic recession Gender differences

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Effect of Temperature on Emergency Ambulance Call-Outs for Cardiovascular Causes:A Scoping Review

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环境与健康(英文) 2023年第1期1卷 6-14页

作者： Santiago Gestal Romaní Adolfo Figueiras Dominic Royé Hospital Clínico Universitario de Santiago de Compostela 15706 Santiago de CompostelaA CoruñaSpain Spanish consortium for biomedical research in epidemiology and public health (CIBER Epidemiology and Public Health-CIBERESP)28029 MadridSpain Department of public health Faculty of FarmacyUniversity of Santiago de Compostela15782 Santiago de CompostelaA CoruñaSpain health research Institute of Santiago de Compostela(IDIS) University of Santiago de Compostela15706 Santiago de CompostelaA CoruñaSpain Climate research Foundation 28013 MadridSpain

Climate change has increased interest in the effects of the thermal environment on cardiovascular health.Most studies have focused on mortality data.However,pre-hospital care data are better able to evaluate these effects,as they can register the full spectrum of the disease in real time.This scoping review aims to synthesize the epidemiological evidence regarding the effects of the thermal environment on cardiovascular morbidity in the pre-hospital setting,evaluated through ambulance calls.A staged literature search was performed using the PubMed database for the period between 1st January 2000 and 30th March 2023,using the MeSH terms“Weather”AND“Emergency Medical Services”.A total of 987 publications were identified that examined the correlation between the thermal environment and ambulance call-outs for cardiovascular causes.The studies were mostly ecological time series,with significant variability in the methodological aspects employed.An increase in the number of ambulance call-outs has been observed in association with low temperatures,both for overall cardiovascular pathologies and for certain pathological subtypes.For high temperatures,no effect has been observed in overall call-outs,although an increase has been observed during heat waves.The demand for ambulances for cardiac arrests is increased by both low and high temperatures and during heat waves.Ambulance call-outs for cardiovascular causes increase with low temperatures and heat waves,with no significant increase in the overall demand associated with high temperatures.Ambulance call-outs for cardiac arrests are the only subtype that is increased by high temperatures.

关键词： cardiovascular diseases weather cold exposure heat exposure ambulance call-out emergency medical services

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Dietary intake of advanced glycation endproducts(AGEs)and cancer risk across more than 20 anatomical sites:A multinational cohort study

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Cancer Communications 2022年第10期42卷 1041-1045页

作者： Reynalda Córdova Ana-Lucia Mayén Viktoria Knaze Elom Kouassivi Aglago Casper Schalkwijk Karl-Heinz Wagner Kim Overvad Anne Tjønneland Cecilie Kyrø Verena Andrea Katzke Charlotte Le Cornet Matthias Bernd Schulze Anna Birukov Domenico Palli Sara Grioni Fabrizio Pasanisi Alberto Catalano Torkjel Manning Sandanger Inger Torhild Gram Guri Skeie Marta Crous-Bou Esther Molina-Montes Pilar Amiano Sandra Milena Colorado-Yohar Eva Ardanaz Isabel Drake Jonas Manjer Ingegerd Johansson Anders Esberg Aurora Perez-Cornago Elisabete Weiderpass Mazda Jenab Heinz Freisling Nutrition and Metabolism Branch International Agency for Research on Cancer(IARC-WHO)Lyon 69008France Department of Nutritional Sciences University of ViennaVienna 1090Austria Department of Internal Medicine Maastricht University Medical CentreMaastricht 6229the Netherlands Department of public health Aarhus UniversityAarhus 8000Denmark Danish Cancer Society research Center Copenhagen 2100Denmark Division of Cancer epidemiology German Cancer Research Center(DKFZ)Heidelberg 69120Germany Department of Molecular epidemiology German Institute of Human Nutrition Potsdam-RehbrueckeNuthetal 14558Germany Institute of Nutritional Science University of PotsdamNuthetal 14558Germany Cancer Risk Factors and Lifestyle epidemiology Unit Institute for Cancer ResearchPrevention and Clinical Network(ISPRO)Florence 2-50139Italy epidemiology and Prevention Unit Fondazione IRCCS Istituto Nazionale dei Tumori di Milano Milan 20133Italy Department of Clinical Medicine and Surgery University of Naples Federico IINaples 80138Italy Department of Clinical and Biological Sciences University of TurinTurin 1012Italy Department of Community Medicine UiT-the Arctic University of NorwayTromsø9037Norway Unit of Nutrition and Cancer Cancer Epidemiology Research ProgramCatalan Institute of Oncology(ICO)-Bellvitge Biomedical Research Institute(IDIBELL)L’Hospitalet de LlobregatBarcelona 08908Spain Department of epidemiology Harvard T.H.Chan School of Public HealthBoston 02115USA Department of Nutrition and Food Science Faculty of PharmacyUniversity of GranadaGranada 18071Spain Ministry of health of the Basque Government Sub Directorate for Public Health and Addictions of GipuzkoaSan Sebastian 20013Spain Biodonostia health research Institute Epidemiology of Chronic and Communicable Diseases GroupSan Sebastián 2014Spain Spanish consortium for research on epidemiology and public health(CIBERESP) Instituto de Salud Carlos IIIMadrid 28029Spain Department of epidemiology Murcia Regional Health CouncilIMIB-ArrixacaM

Dear Editor,In the European region,which shares 22.8%of the global cancer burden for 10%of the global population,there were around 4.4 million new cancer cases and 1.9 million deaths from cancer in 2020[1].The reasons for the high cancer incidence rates are complex;however,diet and dietary components are among the main contributors to cancer risk[2].In modern-day living,a growing proportion of people include in their diets ultra-processed foods.Byproducts of food processing and home-prepared foods are so-called dietary advanced glycation endproducts(AGEs),which are reactive metabolites emerging during the breakdown of reducing sugar.AGEs production is preponderant in dry high-heat processes(e.g.,baking,roasting);hence foods such as cakes,crisps,crackers,cereal products,meat and meat-derived products represent a major source of dietary AGEs[3].

关键词： dietary intake hence

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Approach to identifying research gaps on vector-borne and other infectious diseases of poverty in urban settings:scoping review protocol from the VERDAS consortium and reflections on the project’s implementation

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Infectious Diseases of Poverty 2018年第1期7卷 1030-1038页

作者： Stephanie Degroote Clara Bermudez-Tamayo Valery Ridde University of Montreal public health research Institute(IRSPUM) MontrealQuebecCanada Andalusian School of public health GranadaSpain biomedical research Network Centre for epidemiology and public health(CIBERESP) MadridSpain French Institute for research on Sustainable Development(IRD) Paris Descartes University(CEPED)Paris Sorbonne Cities UniversityErl Inserm SagesudParisFrance

Background:This paper presents the overall approach undertaken by the“VEctor boRne DiseAses Scoping reviews”(VERDAS)consortium in response to a call issued by the Vectors,Environment and Society unit of the Special Programme for research and Training in Tropical Diseases hosted by the World health Organization.The aim of the project was to undertake a broad knowledge synthesis and identify knowledge gaps regarding the control and prevention of vector-borne diseases in urban settings.Methods:The consortium consists of 14 researchers,13 research assistants,and one research coordinator from seven different institutions in Canada,Colombia,Brazil,France,Spain,and Burkina Faso.A six-step protocol was developed for the scoping reviews undertaken by the consortium,based on the framework developed by Arksey and O’Malley and improved by Levac et al.In the first step,six topics were identified through an international eDelphi consultation.In the next four steps,the scoping reviews were conducted.The sixth step was the VERDAS workshop held in Colombia in March 2017.Discussion:In this article,we discuss several methodological issues encountered and share our reflections on this work.We believe this protocol provides a strong example of an exhaustive and rigorous process for performing broad knowledge synthesis for any given topic and should be considered for future research initiatives and donor agendas in multiple fields to highlight research needs scientifically.

关键词： Protocol Scoping review eDelphi VERDAS consortium

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Analyzing predictors of graft survival in patients undergoing liver transplantation with donors aged 70 years and over

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World Journal of Gastroenterology 2018年第47期24卷 5391-5402页

作者： Oscar Caso-Maestro Carlos Jiménez-Romero Iago Justo-Alonso Jorge Calvo-Pulido David Lora-Pablos Alberto Marcacuzco-Quinto Félix Cambra-Molero Alvaro García-Sesma Marina Pérez-Flecha Carlos Munoz- Arce Carmelo Loinaz-Segurola Alejandro Manrique-Municio Unit of HBP Surgery and Abdominal Organs Transplantation Department of General Surgery“12 de octubre” University HospitalMadrid 28041Spain Clinical research Department Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP)“12 de octubre” University HospitalMadrid 28041Spain

AIM To increase the number of available grafts.METHODS This is a single-center comparative analysis performed between April 1986 and May 2016. Two hundred and twelve liver transplantation(LT) were performed with donors ≥ 70 years old(study group). Then, we selected the first cases that were performed with donors < 70 years old immediately after the ones that were performed with donors ≥ 70 years old(control group).RESULTS Graft and patient survivals were similar between both groups without increasing the risk of complications, especially primary non-function, vascular complications and biliary complications. We identified 5 risk factors as independent predictors of graft survival: recipient hepatitis C virus(HCV)-positivity [hazard ratio(HR) = 2.35; 95% confidence interval(CI): 1.55-3.56; P = 0.00]; recipient age(HR = 1.04; 95%CI: 1.02-1.06; P = 0.00); donor age X model for end-stage liver disease(D-MELD)(HR = 1.00; 95%CI: 1.00-1.00; P = 0.00); donor value of serum glutamic-pyruvic transaminase(HR = 1.00; 95%CI: 1.00-1.00; P = 0.00); and donor value of serum sodium(HR = 0.96; 95%CI: 0.94-0.99; P = 0.00). After combining D-MELD and recipient age we obtained a new scoring system that we called DR-MELD(donor age X recipient age X MELD). Graft survival significantly decreased in patients with a DR-MELD score ≥ 75000, especially in HCV patients(77% vs 63% at 5 years in HCV-negative patients, P = 0.00; and 61% vs 25% at 5 years in HCV-positive patients; P = 0.00). CONCLUSION A DR-MELD ≥ 75000 must be avoided in order to obtain the best results in LT with donors ≥ 70 years old.

关键词： Liver transplantation Aged donors Old donors Marginal donors Donor age

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Impact of single annual treatment and four-monthly treatment for hookworm and Ascaris lumbricoides,and factors associated with residual infection among Kenyan school children

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Infectious Diseases of Poverty 2017年第1期6卷 249-260页

作者： Stella Kepha Charles S.Mwandawiro Roy M.Anderson Rachel L.Pullan Fred Nuwaha Jorge Cano Sammy M.Njenga Maurice R.Odiere Elizabeth Allen Simon J.Brooker Birgit Nikolay School of public health Makerere University College of Health SciencesKampalaUganda Eastern and Southern Africa Centre of International Parasite Control Kenya Medical Research Institute(KEMRI)NairobiKenya London Centre for Neglected Tropical Disease research Department of Infectious Disease EpidemiologySchool of Public HealthImperial College LondonLondonUK London School of Hygiene and Tropical Medicine LondonUK Centre for Global health research KEMRIKisumuKenya KEMRI-Wellcome Trust research Programme NairobiKenya

Background:School-based deworming is widely implemented in various countries to reduce the burden of soil-transmitted helminths(STHs),however,the frequency of drug administration varies in different settings.In this study,we compared the impact of a single annual treatment and 4-monthly treatment over a follow-up among Kenyan school children,and investigated the factors associated with residual infection.Methods:We performed a secondary analysis of data from a randomized trial investigating whether deworming for STHs alters risk of acquiring malaria.Children received either a single treatment or 4-monthly albendazole treatments were followed longitudinally from February 2014 to October 2014.The relative impact of treatment and factors associated with residual infections were investigated using mixed-effects regression models.Predisposition to infection was assessed based on Spearman’s rank and Kendall’s Tau correlation coefficients.Results:In the 4-monthly treatment group,the proportion of children infected with hookworm decreased from 59.9 to 5.7%,while Ascaris lumbricoides infections dropped from 55.7 to 6.2%.In the single treatment group,hookworm infections decreased over the same time period from 58.7 to 18.3%(12.6%absolute difference in reduction,95%CI:8.9-16.3%),and A.lumbricoides from 56.7 to 23.3%(17.1%absolute difference in reduction,95%CI:13.1-21.1%).There was strong evidence for predisposition to both STH types.Residual hookworm infection among children on 4-monthly treatment were associated with male sex and baseline nutritional status,whereas A.lumbricoides infection was associated with individual and school-level infection at baseline,latrine cleanliness at schools.Conclusions:This study found that 4-monthly treatment w more effective than single annual treatment.Repeated treatments led to dramatic reductions in the intensities of STHs,but did not completely clear infections among school children in Kenya,a presumed reflection of reinfection in a setting where there is ongoing transmission.

关键词： School-based deworming Soil-transmitted helminths Albendazole School children Kenya

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Association between physical activity and cardiovascular risk factors:Dose and sex matter

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Journal of Sport and health Science 2021年第5期10卷 604-606页

作者： Alejandro Santos-Lozano Alberto Torres Barran Pablo Fernandez-Navarro Pedro L.Valenzuela Adrian Castillo-Garcia Luis MRuilope David Rios Insua Jose M.Ordovas Victoria Ley Alejandro Lucia i+health Department of Health SciencesEuropean University Miguel de CervantesValladolid 47012Spain research Institute of the Hospital 12 de Octubre(imas12 PaHerg group)and(CIBER en Fragilidad y Envejecimiento Saludable-CIBEFES)Madrid 28041Spain Institute of Mathematical Sciences(ICMAT-CSIC) Madrid 28049Spain d Cancer and Environmental epidemiology Unit National Center for EpidemiologyCarlos III Institute of HealthMadrid 28029Spain consortium for biomedical research in epidemiology&public health(CIBER en Epidemiologia y Salud publica-CIBERESP) Madrid 28029Spain Department of Systems Biology University of AlcalaMadrid 28801Spain Fissac-Physiology Health and Physical ActivityMadrid 28801Spain Hypertension Unit and Cardiorenal Translational Laboratory Research Institute of the Hospital 12 de Octubre(imas12)Madrid 28041Spain Jean Mayer USDA Human Nutrition research Center on Aging at Tufts University BostonMA 02111USA Spanish State research Agency Ministry of ScienceInnovation and UniversitiesMadrid 28046Spain Faculty of Sport Sciences Universidad Europea de MadridMadrid 28670Spain

Dear Editor,ETadegn TagedPFailure to meet World health Organization(WHO)-determined minimum physical activity(PA)levels is an established risk factor for cardiovascular disease(CVD),^(1)but evidence is still scarce on its effects on other CVD risk factors.Furthermore,whether or not there are sex-specific effects on the association between PA and CVD risk is a matter of controversy,with some authors observing a protective effect of PA in men but not in women,^(2)and others finding the opposite trend.^(3)

关键词： cardiovascular protective finding

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Are EPB41 and alpha-synuclein diagnostic biomarkers of sport-related concussion?Findings from the NCAA and Department of Defense CARE consortium

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Journal of Sport and health Science 2023年第3期12卷 379-387页

作者： Rany Vorn Christina Devoto Timothy B.Meier Chen Lai Sijung Yun Steven P.Broglio Sara Mithani Thomas W.McAllister Christopher C.Giza Hyung-Suk Kim Daniel Huber Jaroslaw Harezlak Kenneth L.Cameron Gerald McGinty Jonathan Jackson Kevin M.Guskiewicz Jason P.Mihalik Alison Brooks Stefan Duma Steven Rowson Lindsay D.Nelson Paul Pasquina Michael A.McCrea Jessica M.Gill the CARE consortium Investigators Johns Hopkins School of Nursing and Medicine BaltimoreMD 21205USA National Institutes of health BethesdaMD 20892USA Department of Neurosurgery Medical College of WisconsinMilwaukeeWI 53226USA Predictiv Care Inc.Mountain ViewCA 94086USA Michigan Concussion Center University of MichiganAnn ArborMI 48109USA Department of Psychiatry Indiana University School of MedicineIndianapolisIN 46202USA Departments of Pediatrics and Neurosurgery University of California at Los Angeles(UCLA)Los AngelesCA 90024USA Department of epidemiology and Biostatistics School of public health–Bloomington Indiana UniversityBloomingtonIN 47405USA John A.Feagin Sports Medicine Fellowship Keller Army Community HospitalWest PointNY 10996USA United States Air Force Academy Colorado SpringsCO 80840USA Mathew Gfeller Center Department of Exercise and Sport ScienceUniversity of North Carolina at Chapel HillChapel HillNC 27514USA Department of Orthopedics Division of Sports MedicineSchool of Medicine and Public HealthUniversity of WisconsinMadisonWI 53705USA Department of biomedical Engineering and Mechanics Virginia TechBlacksburgVA 24061USA Center for Neuroscience&Regenerative Medicine Uniformed Services UniversityBethesdaMD 20814USA 不详 Current affiliation:School of Nursing University of Texas Health Science Center San AntonioSan AntonioTX 78229USA

Background:Current protein biomarkers are only moderately predictive at identifying individuals with mild traumatic brain injury or concussion.Therefore,more accurate diagnostic markers are needed for sport-related concussion.Methods:This was a multicenter,prospective,case-control study of athletes who provided blood samples and were diagnosed with a concussion or were a matched non-concussed control within the National Collegiate Athletic Association-Department of Defense Concussion Assessment,research,and Education consortium conducted between 2015 and 2019.The blood was collected within 48 h of injury to identify protein abnormalities at the acute and subacute timepoints.Athletes with concussion were divided into 6 h post-injury(0-6 h post-injury)and after 6 h postinjury(7-48 h post-injury)groups.We applied a highly multiplexed proteomic technique that used a DNA aptamers assay to target 1305proteins in plasma samples from athletes with and without sport-related concussion.Results:A total of 140 athletes with concussion(79.3%males;aged 18.71±1.10 years,mean±SD)and 21 non-concussed athletes(76.2%males;19.14±1.10 years)were included in this study.We identified 338 plasma proteins that significantly differed in abundance(319 upregulated and 19 downregulated)in concussed athletes compared to non-concussed athletes.The top 20 most differentially abundant proteins discriminated concussed athletes from non-concussed athletes with an area under the curve(AUC)of 0.954(95%confidence interval:0.922-0.986).Specifically,after 6 h of injury,the individual AUC of plasma erythrocyte membrane protein band 4.1(EPB41)and alpha-synuclein(SNCA)were 0.956 and 0.875,respectively.The combination of EPB41 and SNCA provided the best AUC(1.000),which suggests this combination of candidate plasma biomarkers is the best for diagnosing concussion in athletes after 6 h of injury.Conclusion:Our data suggest that proteomic profiling may provide novel diagnostic protein markers and that a combination of EPB41 and SNCA is the most predictive bi

关键词： Biomarkers College athletes Concussion Mild traumatic brain injury Sport injury

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Multicomponent Strategy with Decentralized Molecular Testing for Tuberculosis

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四川生理科学杂志 2021年第10期43卷 1731-1731页

作者： Adithya Cattamanchi From the Division of Pulmonary and Critical Care Medicine and the Center for Tuberculosis San Francisco General Hospital (A.C. T.F.R. P.B.S.) the Partnerships for Research in Implementation Science for Equity Center (A.C. P.B.S. M.A.H.) and the Departments of Epidemiology and Biostatistics (M.A.H.) and Social and Behavioral Sciences (S.A.) University of California San Francisco San Francisco the Uganda Tuberculosis Implementation research consortium (A.C. T.N. M.N. D.O. S.N. D.B. S.T. P.B.S. D.A.J.M. J.L.D. D.W.D. A.K.) National Tuberculosis and Leprosy Program Uganda Ministry of Health (S.T.) and the Schools of Biomedical Sciences (M.J.) and Medicine (A.K.) Makerere University College of Health Sciences - all in Kampala Uganda the Implementation Science Program (K.A.) and the Department of epidemiology (A.T. H.S. O.F. R.T. D.W.D.) Johns Hopkins Bloomberg School of Public Health Baltimore the Faculties of Infectious and Tropical Diseases (D.A.J.M.) and epidemiology and Population health (K.F.) and the TB Centre (D.A.J.M. K.F.) London School of Hygiene and Tropical Medicine London the Department of epidemiology of Microbial Diseases and the Center for Methods in Implementation and Prevention Sciences Yale School of Public Health and the Section of Pulmonary Critical Care and Sleep Medicine Yale School of Medicine - both in New Haven CT (J.L.D.).

Background:Effective strategies are needed to facilitate the prompt diagnosis and treatment of tuberculosis in countries with a high burden of the disease.Methods:We conducted a cluster-randomized trial in which Ugandan community health centers were assigned to a multicomponent diagnostic strategy(on-site molecular testing for tuberculosis,guided restructuring of clinic workflows,and monthly feedback of quality metrics)or routine care(on-site sputum-smear microscopy and referral-based molecular testing).The primary outcome was the number of adults treated for confirmed tuberculosis within 14 days after presenting to the health center for evaluation during the 16-month intervention period.Secondary outcomes included completion of tuberculosis testing,sameday diagnosis,and same-day treatment.Outcomes were also assessed on the basis of proportions.

关键词： diagnosis routine testing

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New genes emerging for colorectal cancer predisposition

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World Journal of Gastroenterology 2014年第8期20卷 1961-1971页

作者： Clara Esteban-Jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo Clara Ruiz-Ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel Department of Gastroenterology Hospital ClínicCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas(CIBEREHD)Institut d’Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)University of Barcelona08036 BarcelonaCataloniaSpain Molecular Oncology Laboratory Hospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Bioinformatics platform Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD)08036 BarcelonaSpain Centre Nacional d’Anàlisi Genòmica (CNAG) Parc Científic de Barcelona08028 BarcelonaSpain Department of Gastroenterology Hospital del Mar-IMIM (Hospital del Mar Medical Research Centre)Pompeu Fabra University08003 BarcelonaSpain Galician public Foundation of Genomic Medicine (FPGMX) Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Genomics Medicine GroupHospital ClínicoSantiago de CompostelaUniversity of Santiago de Compostela15706 GaliciaSpain Center of Excellence in Genomic Medicine research King Abdulaziz University21589 JeddahKingdom of Saudi Arabia Gastroenterology Department Hospital DonostiaNetworked Biomedical Research Centre for Hepatic and Digestive Diseases (CIBEREHD)Basque Country University20080 San SebastiánSpain

Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed world.This cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic differences.Mendelian syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common forms.Excluding hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic cause.CRC can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate effect.So far,30 common,low-penetrance susceptibility variants have been identified for CRC.Recently,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease predisposition.By using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis.

关键词： Colorectal neoplasm,genetic predisposition to dise

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