Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Irene Perea‐RomeroGema GordoIonut-Florin IancuMarta Del Pozo‐ValeroBerta AlmogueraFiona Blanco‐KellyEster CarreñoBelén Jimenez‐RolandoRosario López‐RodríguezIsabel Lorda‐SánchezInmaculada Martín-MéridaLucía Pérez de AyalaRosa Riveiro-ÁlvarezElvira Rodríguez‐PinillaSaoud Tahsin SwafiriMaría José Trujillo-TiebasAna Bustamante‐AragonésRocio Cardero‐MerloRuth Fernández‐SánchezJ. Gallego‐MerloInes Garcia-VaraAscensión Gimenez-PardoLaura Horcajada-BurgosFernando Infantes‐BarberoEsther LanteroMiguel Ángel López-MartínezAndrea Martínez‐RamasLorena OndoMarta Rodríguez de AlbaC. Sánchez-JimenoC. Vélez-MonsalveCristina VillaverdeOlga ZuritaDomingo Aguilera‐GarciaJana Aguirre-LambánAna Arteche‐LópezDiego CantalapiedraPatrícia JoséLiliana Galbis-MartinezMaria García‐HoyosCarlos LombardiaMaría Isabel López-MolinaRaquel Pérez-CarroLuciana Rodrigues Jacy da SilvaCarmen RamosRocío Sánchez-AlcudiaIker Sánchez‐NavarroSorina D. TatuElena VallespínElena AllerSara BernalMaria J. GamundiGema García‐GarcíaInmaculada HernanTeresa JaijoGuillermo AntiñoloMontserrat BaigetMiguel CarballoJosé M. MillánDiana ValverdeRando AllikmetsSandro BanfiFrans P.M. CremersRob W.J. CollinElfride De BaereHákon HákonarsonSusanne KohlCarlo RivoltaDror SharonMaría Concepción Alonso‐CerezoMaría Juliana Ballesta‐MartínezSergi BeltránCarmen Benito LopezJaume Català‐MoraClaudio CatalliCarmen Cotarelo-PérezMiguel Fernández‐BurrielAna Fontalba-RomeroEnrique Galán‐GómezMaría García‐BarcinaLoida M. Garcia-CruzBlanca GenerBelén Gil-FournierNancy GoveaEncarna Guillén‐NavarroI. Hernando AceroCristina IrigoyenSilvia Izquierdo ÁlvarezIsabel Llano‐RivasMaria A. López-ArizteguiVanesa López‐GonzálezFermina Lopez-GrondonaLoreto MartorellPilar Mendez-PerezMaría Moreno‐IgoaRaluca Oancea-IonescuFrancesc PalauGuiomar Pérez de NanclaresFeliciano J. Ramos-FuentesRaquel Rodríguez‐LópezMontserrat Rodríguez-PedreiraLydia Rodriguez-PeñaBerta Rodriguez-SanchezJordi RosellNoemí RosellóRaquel Saez‐VillaverdeAlfredo SantanaIrene ValenzuelaEva Villota-DeleuBlanca García‐SandovalPablo MínguezAlmudena Ávila‐FernándezMarta CortónCarmen Ayuso
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An amendment to this paper has been published and can be accessed via a link at the top of the paper.Keywords:
Genetic epidemiology
This paper details some of the issues surrounding the growing field of molecular epidemiology
Epidemiology is both a science and an art. The science of epidemiology entails applying classic epidemiological methods to understanding the distribution of diseases in populations. The art of epidemiology is interpreting the findings. Molecular epidemiology provides new opportunities for epidemiologists and other medical researchers to understand diseases and make public health recommendations for disease prevention and treatment. The value of molecular epidemiological studies, in terms of providing information that can be used to improve the health of populations, depends on how well both the science and the art are applied.
Molecular epidemiology, an area of epidemiology that is somewhat ambiguous, encompasses utilisation of biomarkers and genetics as tools to define both exposures (factors that are inherited) and outcomes (factors that are acquired). As noted by Porta and colleagues,1 there are an increasing number of published articles with molecular epidemiology as a key word. Molecular epidemiology has been applied to many diseases, although a large percentage of published studies have focused on cancer. Within the cancer arena, most molecular epidemiological studies involving genetics have examined inherited genetic variants or polymorphisms. These genetic variants are exposures, a host characteristic, that may independently or through combination with other diet, lifestyle, or environmental exposures change disease risk. While the hope was that these studies would explain some of the inconsistent diet and lifestyle associations reported in the literature, many have added their own element of confusion.2–8
Evaluation of acquired tumour mutations as a disease end point with diet, lifestyle, and environmental exposure data can provide information about specific disease pathways. The central issue in the review by Porta and colleagues1 was classification of genetic mutations in tumours and appropriate inferences from this classification. Despite the growing …
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Although a large number of studies have been made to identify genetic loci associated with osteoarthritis (OA), there are only a few that have been reported to be associated with OA in many regions and countries. One of the reasons for the lack of success may be small effect sizes. A sufficiently large sample size is required for the genetic epidemiology on OA to elucidate genetic influence regarding the occurrence and progression.
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This chapter contains sections titled: Introduction Descriptive Epidemiology Descriptive Genetic Epidemiology Studies Investigating Specific Aetiological Determinants The Future Acknowledgments References
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Psychiatric epidemiology constitutes an important subdiscipline of scientific psychiatry. Nevertheless, it still lags behind other branches of epidemiology. This has been attributed to the difficulties encountered in conceptualising and measuring mental disorders.1 It is only recently that the emphasis in the field has shifted from descriptive to analytical research and this is probably because of the influences from genetic epidemiology and social sciences.2 Psychiatric epidemiology has taken most of its tools from general epidemiology—that is, chronic disease epidemiology.3 It is therefore not surprising that no fundamental differences between the mother discipline and her psychiatric descendant exist. Yet, there are particular challenges in the conduct of psychiatric epidemiological research that are absent or less prominent in general, mostly somatically oriented, epidemiology.4 Challenges particularly encountered in psychiatric epidemiology include
1. Assessment of caseness: psychiatric diagnoses are mostly made on the basis of symptoms—patients’ reports of their subjective experiences—and not signs, like fever in general medicine. Moreover, there are no pathognomonic symptoms or signs;
2. Neither most mental disorders nor their best-known risk factors, like social deprivation, stress exposure, lack of social support, social isolation, abnormal personality traits or genetic liability, are as easily captured in a singular variable as tends to be the case in the epidemiology of somatic disease;
3. Making a psychiatric diagnosis is costly in time and effort; and
4. Information bias and non-response bias are more of a problem in psychiatric epidemiology than in other branches of epidemiology.
In our view, this warrants recognition of the epidemiology subspecialty “psychiatric epidemiology”.
In trying to cope with the above-mentioned challenges, psychiatric epidemiology has developed a set of concepts, albeit limited, and vocabulary of its own. The purpose of this glossary is to provide brief definitions, sometimes with comments, of frequently used special terms one may come across in dealing with …
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During the past 15 years, the epidemiology of Wegener's granulomatosis (WG) has become better understood. Descriptive epidemiological studies carried out primarily in European countries estimate a prevalence of WG ranging from 24 to 157 per million and annual incidence rates from 3 to 14 per million. These studies suggest a North-South declining gradient in disease risk in the Northern Hemisphere and an increase in incidence over time, although the latter is likely largely due to improved diagnostic ascertainment. Data also indicate the presence of potential secular and seasonal variations in WG incidence and a decreasing disease risk among non-Caucasians. Furthermore, analytic epidemiological studies have pointed out putative genetic and non-genetic risk factors for WG. Genetic investigations have identified various candidate genes, with alpha1-antitrypsin deficiency being the most consistently reported genetic susceptibility factor to date. Even though much less research has been devoted to environmental risk factors, evidence has grown for a possible relationship between WG and occupational exposure to crystalline silica. Thus far, data support the concept of WG as a multifactorial disease in which genetic and environmental determinants are involved but a major gap in understanding persists regarding the extent to which both factors contribute to its development. This and many other questions remain to be answered by future structured epidemiological research. This review focuses on the current knowledge of descriptive epidemiology and genetic and environmental factors associated with WG.
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The authors synthesize the available evidence regarding the basic epidemiology (other than genetic epidemiology) of mania, and detail areas where further research is needed.
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Epidemiology is not only an important basic subject but also a wide range of applied science in area of modern medicine.As a methodology,Epidemiology has an irreplaceable role in the research of complex diseases.With a complex disease property,DM should be studied with systemic and multi-level epidemiological methods.In this article,we systematically reviewed the studying works on DM from the 3 aspects of clinical epidemiology,genetic epidemiology and molecular epidemiology,which branched from clinical medicine,genetics and molecular biology respectively,the candidate genes of DM were also enumerated in the aspect of molecular genetics.We proposed that DM should be systematically explored with the methods of combining the macro-epidemiology(influences come from the society and environment) and micro-epidemiology(molecular genetics).
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Journal Article CHRONIC OBSTRUCTIVE PULMONARY DISEASE: A CHALLENGE IN GENETIC EPIDEMIOLOGY Get access BERNICE H. COHEN BERNICE H. COHEN 1Department of Epidemiology, The Johns Hopkins University, School of Hygiene and Public Health615 North Wolfe Street, Baltimore, MD 21205 Search for other works by this author on: Oxford Academic PubMed Google Scholar American Journal of Epidemiology, Volume 112, Issue 2, August 1980, Pages 274–288, https://doi.org/10.1093/oxfordjournals.aje.a112994 Published: 01 August 1980
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