Bakgrund: Diabetes Mellitus är kronisk sjukdom som är kopplat till lidande och förlust av livskvalitet. Egenvård är avgörande för att minska de negativa konsekvenserna. Mindre än hälften av alla diabetespatienter uppnår god egenvård. Anledningen är bland annat begränsad kunskap om diabetes och bristande egenvårdsföljsamhet. Införandet av Informations- och kommunikationsteknologi i diabetesvården påbörjades för att förbättra det kliniska resultatet och livskvaliteten för patienter med diabetes typ 2. Syfte: Att beskriva hur information och kommunikationsteknologi kan främja egenvård på distans för patienter med diabetes mellitus typ 2. Metod: Litteraturstudie, där artiklarna söktes i CINAHL, PubMed och Web of Science. Artiklarna som inkluderades var 15 artiklar med kvantitativ, kvalitativ samt mixed metod. Resultat: Resultatet visade att Information och kommunikationsteknologi såsom internet, dator och mobiltelefonbaserade egenvårdsprogram främjade egenvård hos patienter med diabetes typ 2 genom ökad kunskap, ökad medvetenhet, ökad motivation samt förbättrad livsstilsförändring i kost och motion. Slutsats: IKT som hjälpmedel kan underlätta dagliga utmaningarna för patienter med diabetes typ 2 eftersom den täcker kunskapsluckan och därtill ökar patienternas medvetenhet och motivation till egenvård. / Introduction: Diabetes Mellitus is a chronic disease that is linked to suffering and lack of quality of life. Self-care is essential to reduce the negative consequences. Less than half of all patients achieve good self-care. Some of the reasons are limited knowledge of diabetes and poor self-care compliance. The introduction of ICT in diabetes care was started to improve clinical outcomes and quality of life for patients with diabetes type 2. Aim: To describe how information and communication technology can promote self-care in distance for patients with diabetes mellitus type 2. Methods: Literature study, in which the articles were searched in CINAHL, PubMed and Web of Science. Articles included were 15 articles with a quantitative, qualitative and mixed method. Results: The results showed that information and communication technology such as internet, computer and mobile phone-based self-care program promoted self-care in patients with diabetes type 2 by increasing knowledge, awareness, motivation and improving lifestyle change. Conclusion: Information and communication technology can facilitate the daily challenges for patients with type 2 diabetes because it covers the knowledge gap and increases patient awareness and motivation for self-care.

The study aims to identify the influence of socioeconomic factors on the prevalence of type 2 diabetes for individuals aged 27 and older in the Republic of Belarus. We analyze data from the Diabetes Survey conducted by the Endocrinology Medical Center in Minsk and the Ministry of Health of the Republic of Belarus from 2011 to 2015. The association between socioeconomic factors and the prevalence of type 2 diabetes is examined using logistic regression with sequential adjustments for clinical and behavioral predictors. Our findings indicate that individuals with lower income and educational levels are more likely to suffer from type 2 diabetes than those in higher income and education groups. Moreover, the prevalence of type 2 diabetes decreases as income and educational level go up. Furthermore, this association remains significant even after further adjusting for various behavioral and clinical factors. In addition, we confirm that type 2 diabetes is more prevalent among overweight / obese, physically inactive and older individuals. These findings suggest that strategies for preventive diabetes programs should be focused on socioeconomic environment rather than on individual risky behavior only.

A atividade física é considerada um dos pilares no tratamento do diabetes mellitus. Nesta direção, para a prescrição da atividade física recomenda-se conhecer o nível de atividade física do usuário com diabetes mellitus, com vistas aos benefícios à saúde. Estudo transversal, realizado em uma Unidade Básica Distrital de Saúde, em uma cidade do interior do estado de São Paulo, em 2009. O objetivo foi analisar o nível de atividade física dos usuários com diabetes mellitus tipo 2, segundo o Questionário Internacional de Atividade Física (IPAQ). A amostra foi constituída por 134 usuários com diabetes mellitus tipo 2, no período de maio a agosto de 2009. Para a coleta de dados, foram utilizados um formulário contendo as variáveis demográficas e clínicas e o questionário referente ao IPAQ. Para a análise, utilizaram-se a estatística descritiva e os testes de ANOVA e Qui-quadrado. Para calculo do nível de atividade física foi utilizado o Guidelines for Data Processing and Analysis of the International Physical Activity Questionnaire (IPAQ)- Short and Long Forms (2005). Os resultados mostraram que a média de idade dos sujeitos foi de 63,5 (±10,3) anos, tempo de diagnóstico de 11,7 (±7,9) anos. Quanto ao nível de atividade física 11,9% são sedentários, 50% e 17,9% são ativos e muito ativos, respectivamente. Constatou-se que 56% não realizam qualquer tipo de atividade física no período de lazer. Houve uma correlação inversa entre o nível de atividade física e a idade. A média de tempo gasto na posição sentada foi superior a cinco horas ao dia. No entanto, o tempo gasto nessa posição apresenta inversa correlação com o nível de atividade física dos sujeitos. Isso sugere que a orientação adequada de atividade física poderia diminuir o tempo gasto na posição sentada e promover um estilo de vida mais saudável em relação à atividade física. Obteve-se que a realização de atividade física no período de lazer não atinge nem a metade dos sujeitos do estudo e que, apenas, 20,1% atingem os níveis de atividade física recomendados para obtenção de benefícios à saúde. Recomenda-se a necessidade de implantação de um grupo de educação em diabetes para o melhor gerenciamento da doença destacando-se a atividade física. / Physical activity is considered one of the treatment pillars of diabetes mellitus. This way it is recommended that the professional recognizes the physical activity´s level of the people with diabetes mellitus for the prescription of physical activity aiming benefits in health. It\'s a cross-sectional study done in 2009 in a Basic District Health Unit in one city of São Paulo state. The objective was to analyze the level of physical activity from people with diabetes mellitus type 2 according to the International Physical Activity Questionnaire (IPAQ). The sample was composed by 134 subjects with diabetes mellitus type 2 from May through August, 2009. For the sampling frame was used a questionnaire with clinical and demographic variables and the International Physical Activity Questionnaire (IPAQ). Statistical analysis used descriptive statistic, the ANOVA test and the chi-square test. To calculate the level of physical activity it was used the Guidelines for Data Processing and Analysis of the International Physical Activity Questionnaire (IPAQ) - Short and Long Forms (2005). Results showed that the average age of the subjects were among 63,5 years (± 10,3); time of the diagnosis 11,7 years (±7,9). Related to the level of physical activity 11,9% were sedentary, 50% and 17,9% were physically active and very physically active, respectively. Fifty-six per cent (56%) of the subjects didn\'t exercise in any type of physical activity in their leisure time. There were an inverse correlation between the level of physical activity and the age. The median time spent seated was higher than 5 hours per day. However, the time spent on this position showed an inverse correlation with the level of the subjects\' physical activity. It suggests that the right advice of physical activity might diminish the time spent on seated position and promote a healthier way of life related to physical activity. Results showed that the practice of physical activity during leisure time didn\'t reach even half of the subjects of the study and that only 20,1% reached the levels of physical activity recommended for obtaining health benefits. It\'s recommended the needy to create a diabetes educational group for a better control of this chronic condition giving emphasis to the physical activity.

Dentre as doenças crônico-degenerativas encontra se o diabetes tipo 2 que atinge cerca de 5 milhões de brasileiros. O diabetes é definido como uma síndrome de etiologia múltipla, decorrente da falta de insulina e/ou da incapacidade da insulina exercer adequadamente seus efeitos. Tem como conseqüência em longo prazo alterações micro e macrovasculares que levam a disfunção, dano ou falência de vários órgãos. Em termos de morbidade o diabetes representa, uma das principais doenças crônicas que afetam o homem contemporâneo e o aumento na incidência e prevalência pode estar associado às mudanças sociais tais como: maior taxa de urbanização, aumento da expectativa de vida, industrialização, dietas hipercalóricas e ricas em hidratos de carbono de absorção rápida, deslocamento de populações para zonas urbanas, mudanças de estilo de vida, inatividade física e obesidade. Atualmente não existe cura para o diabetes, pode se pensar no bom controle dessa doença através da alimentação, atividade física e uso de medicamentos. Acredita-se que, se a pessoa diabética atinge o controle glicêmico é possível prevenir as complicações e favorecer a qualidade de vida. Nota se, ao discutir os cuidados da pessoa diabética relacionados ao plano terapêutico, que há uma estreita relação com o apoio familiar e o cuidado com a doença. Assim, constituise objeto de estudo compreender como as relações familiares influenciam no processo de adoecimento da pessoa diabética e é influenciada por ele. Trata se de um estudo fundamentado nos princípios da abordagem sistêmica e do interacionismo simbólico, realizado no período de fevereiro a maio de 2006. Participaram do estudo seis famílias de pessoas diabéticas tipo 2, em seguimento no Grupo de Educação em Diabetes do Centro de Educação para Adultos e Idosos da Escola de Enfermagem de Ribeirão Preto da Universidade de São Paulo. Os dados foram obtidos por meio de análise dos prontuários, observação não participante, registros no diário de campo e entrevista familiar, no domicílio. Os dados são apresentados em duas fases. A primeira corresponde à análise do sistema familiar segundo os aspectos estrutural, de desenvolvimento e funcional. E em segundo a apresentação das entrevistas transcritas e submetidas à análise de conteúdo latente, descritas através de categorias. A análise do sistema familiar permitiu observar que das seis famílias participantes, todos os pacientes eram idosos, cinco coabitavam com seus respectivos cônjuges e uma era viúva. A análise das entrevistas demonstrou dois momentos importantes no manejo do diabetes que se apresentaram de forma temporal e que se entrelaçam pelas relações familiares estabelecidas neste processo de adoecimento: a descoberta e em seguida o convívio com a doença. Os resultados nos permitiram concluir que olhar para o contexto, para a dinâmica e para a forma de organização familiar em que à pessoa diabética está inserida, facilita o processo de entendimento dos fenômenos relacionados ao controle glicêmico. Entede-se que é imprescindível ao profissional de saúde, considerar a família como unidade de cuidado a pessoa diabética, assim como utilizar a correlação entre família e controle dos valores glicêmicos como ferramenta para a melhoria da assistência prestada. / Diabetes type 2 is found among the chronic conditions which affect about 5 million Brazilians. Diabetes is defined as a syndrome of multiple etiology, resulting from the lack of insulin and/or the inability of the insulin to perform its effects accurately. It has micro and macrovascular changes as long term consequences which lead to the malfunction, damage or failure of various organs. In terms of morbidity, Diabetes Mellitus represents, nowadays, one of the main chronic diseases which affect the contemporary men. The increase of its occurrence and prevail may be associated with social changes such as higher urbanization rate, increase of life expectancy, industrialization, hypercaloric diets rich in carbon hydrates of quick absorption, migration of populations to urban areas, change of lifestyle, physical inactivity and obesity. There is not a cure for diabetes nowadays. For the moment, it is possible to think of a good control of this disease through a diet, physical activity and use of medication. It is believed that if the patient starts this control, it is possible to prevent some complications and favor his/her life quality. It is observed that when discussing the adhesion of the type 2 diabetic to the medication or non-medication treatments there is a narrow relation between the family support and the following of the given orientation. Thus, study object consists to understand as the familiar relations influence in the process of to sick of the diabetic person and are influenced by it. It is a qualitative study based on the principles of symbolic interactionism and the systemic approach which led the data collection and analysis of this research. Six families in which there were type 2 diabetics participated in this study followed by the Centro de Educação para Adultos e Idosos da Escola de Enfermagem de Ribeirão Preto da Universidade de São Paulo. The data was put together through interview, non-participant observation and informal interview, records on the field journal and family interview at the family home. This data was presented with the analysis of the family system according to the structural, developing and functional aspects (genogram) and the description of the categories obtained on the interviews. The interviews were transcripted and put under a latent content analysis. The analysis of the family system enabled the observation that out of the six participating families all the patients were elderly, five lived with their spouses and only one patient was a widow. The analysis of the interviews showed two important moments in the handling of diabetes which were presented in a temporal way: realizing the existence of the disease and living with it. The results in had allowed them to conclude that to look at for the context, the dynamics and the form of familiar organization where to the diabetic person she is inserted, it facilitates the process of agreement of the related phenomena to the glicemico control. That it is essential to the health professional, to consider the family as unit of care the diabetic person, as well as using the correlation between family and control of the glicemicos values as tool for the improvement of the given assistance.

No description available.

O diabetes mellitus tipo 2 é um dos principais problemas de saúde pública da atualidade. Esta doença se integra ao ambiente familiar, exigindo da pessoa portadora e de seus familiares ajustamentos para incluir os cuidados exigidos. Tais demandas exercem influencias sobre os indivíduos e sobre a família uma vez que estes se sentem responsáveis por se ajustarem a essa nova realidade a fim de gerenciar os cuidados exigidos. Entende se por ajustamento os movimentos contínuos que a família faz, ao longo do tempo, no sentido de conviver com o diabetes e, inserir as demandas que o diabetes impõe em suas vidas e rotinas. Assim, o objetivo desta pesquisa é compreender os processos de ajustamento da família frente às exigências que o diabetes tipo 2 impõe ao sistema familiar ao longo do tempo. Como referencial teórico, esta pesquisa se ancora nas perspectivas da Abordagem Sistêmica Familiar e, em algumas idéias sobre a experiência humana e os símbolos do Interacionismo Simbólico. Como método de pesquisa e de análise dos dados, utilizou se a Teoria Fundamentada nos Dados. Participaram 12 famílias que foram dividas em três grupos de convívio com o diabetes: os primeiros cinco anos de tratamento, o período de seis a dez anos, e período superior a onze anos. Para a coleta de dados foram realizados três encontros no domicílio de cada família. A análise dos dados nos permitiu identificar quatro momentos, que vão desde os fatos ocorridos antes do adoecimento até o convívio com o tratamento, permitindo caracterizar a trajetória familiar quando em contato com o diabetes ao longo do tempo. No primeiro momento, a família e a pessoa com diabetes percebem o aparecimento de alguns sintomas, possuem a crença de que é algo passageiro e elaboram os cuidados mediante os conhecimentos adquiridos com as experiências de vida, com o passar do tempo, percebem que esses cuidados não são suficientes para o desaparecimento desses sintomas. Os sentimentos são de incerteza e insegurança e os fazem buscar o serviço de saúde. No segundo momento, há a busca pelo serviço de saúde, e se deparam com a confirmação do diagnóstico. As crenças são de que o diabetes é um castigo, que seu aparecimento está fundamentado em alguns erros cometidos no passado e que é possível se curar pela fé ou pela gestação. Os cuidados agora são no sentido de aderir ao plano terapêutico, a família reorganiza a rotina para inserir hábitos alimentares condizentes com o diabetes e inserem a medicação em sua rotina. Ao vivenciarem esta reorganização, se deparam com as dificuldades do dia a dia e, buscam alternativas fundamentadas na sua cultura. No terceiro momento, há um aprimoramento dos cuidados, ou seja, as pessoas reelaboram suas estratégias de convívio com a doença de acordo com as experiências do dia a dia. Há um aumento na confiança, pois, possuem conhecimento a respeito dos limites do corpo e manejo da doença. No quarto momento, há uma mudança significativa de posicionamento frente à vida, ou seja, os medos e inseguranças com relação a possibilidade de vir a vivenciar alguma co-morbidade existem mas, esta possibilidade é entendida como algo que pertence ao envelhecimento e já não causam tanto sofrimento e insegurança como visto nos momentos anteriores. Assim, podemos inferir que conhecer e entender o momento em que a família se encontra quando em contato com a doença, levando em consideração os sentimentos e crenças agregados no cuidado com o diabetes, favorece o planejamento e, conseqüente realização de uma assistência humanizada e eficaz a pessoa com diabetes e sua família. / Diabetes mellitus type 2 is one of the main problems of public health nowadays. This disorder is incorporated into the family environment demanding adaptations from the individual who carries it and their relatives so that the required care is taken. Such demands have influence on the individuals and on their family once they feel responsible for adapting to this new reality in order to manage such required care. This adaptation refers to the continuous actions the family takes in order to live with diabetes and introduce the demands of the disorder into their lives and routine. Therefore, the purpose of this study is to understand the process of adaptation of the family facing the demands of diabetes type 2 in the family system. The theoretical reference of this study is based on the perspectives of the Family Systemic Approach and on some ideas on the human experience and the symbols of the Symbolic Interactionism. The Data-Based Theory is used as a research and data analysis method. Twelve families took part in this study and were divided into three groups that deal with diabetes: a group in the first five years of treatment, one in the period of six to ten years of treatment, and another in over eleven years of treatment. In order to collect the data, three meetings were held at the home of each family. The analysis of the data allowed us to identify four moments that go from the events that took place before the disorder was acquired up to when the family was dealing with the treatment making it possible to describe the family\'s course of action whilst in contact with diabetes. At a first moment, the family and the individual with diabetes notice some symptoms, believe they are temporary and take measures according to what they have learned through their life experience. As time goes by, they learn that these measures are not enough to get rid of the symptoms. They feel uncertain and insecure. These feelings make them seek health service. At a second moment, they seek health service and receive the confirmation of the diagnosis. The individuals believe that diabetes is some kind of punishment. They believe they acquired it because of some mistakes committed in the past, and that it is possible to be cured through faith or through pregnancy. At this moment, the measures taken are about following the therapeutic plan. The family reorganizes its routine in order to introduce eating habits which are coherent with diabetes and the medication into their day-to-day life. As they go through this reorganization, they face the difficulties of the daily life and seek alternatives based on their culture. At a third moment, the care is improved, that is, the individuals reinvent their strategies of dealing with the disorder according to their day-by-day experience. Their confidence increases since they know about the limits of the body and how to manage the disorder. At a fourth moment, there is a significant change in the way life is seen, that is, the fear and insecurity felt about the possibility of death still remain; however, such possibility is understood as something that belongs to aging and does not cause so much suffering and insecurity as seen in previous moments. Therefore, we can infer that knowing and understanding the moment the family is going through whilst in contact with the disorder, taking the feelings and beliefs gained while treating diabetes into consideration, favors planning and the consequent humane and efficient assistance to the individual with diabetes and their family.

Wu Man Sze Anise. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2001. / Includes bibliographical references (leaves 72-84). / Abstracts in English and Chinese. / ACKNOWLEDGEMENTS --- p.ii / ABSTRACT --- p.iii / TABLE OF CONTENTS --- p.vi / LIST OF TABLES --- p.viii / Chapter CHAPTER 1 --- INTRODUCTION --- p.1 / Health Habits --- p.2 / Health Habits and Health Status of Elderly Adults --- p.2 / Health Habits among Chinese Elders with Diabetes --- p.3 / Measurement of Health Habits --- p.5 / Perceived Control --- p.6 / Perceived Control over Health --- p.6 / Health Locus of Control and Health Value --- p.7 / Self-efficacy --- p.15 / Previous Research Focus of Effect of Perceived Control on Chronic Illness --- p.16 / Perceived Control and Chinese Culture --- p.19 / Chapter CHAPTER 2 --- MAIN STUDY --- p.20 / Purpose of the Present Study --- p.20 / Method --- p.22 / Participants --- p.22 / Instruments --- p.24 / Health Habits --- p.24 / Health Locus of Control --- p.25 / Health Value --- p.26 / Self-efficacy --- p.26 / Health Status --- p.26 / Blood Glucose Control --- p.27 / Demographics --- p.27 / Procedure --- p.28 / Data Analysis --- p.28 / Results --- p.30 / Results for the First Wave Data --- p.30 / Analysis of Demographic Information --- p.30 / Analyses of Blood Glucose --- p.33 / Factor Analyses of Health Habits --- p.35 / Analysis of Demographic/ Medical Effects on Two Health Habits Dimensions --- p.36 / Correlations among Psychological Variables and Health Habits at Time1 --- p.38 / Regression Analyses of General Health Habits at Time1 --- p.40 / Regression Analyses of Diabetes-related and Preventive Health Habits at Time1 --- p.42 / Results for Second Wave Data --- p.45 / Correlations of Health Habits/Health Status at --- p.45 / Time 1 and Health Status at Time2 / Changes across Time --- p.46 / Stepwise Regression Analysis of Health Habits at Time2 --- p.47 / Discussion --- p.50 / Predictors of Health Habits at Time1 --- p.50 / Predictive Power of Psychological Constructs over --- p.57 / Habits at Time2 / Glycemic Control --- p.58 / Demographic and Medical Influences on Health --- p.60 / Status and Psychological Variables / Limitations --- p.61 / Research and Practical Implications --- p.63 / Conclusion / REFERENCES --- p.70 / FOOTNOTES --- p.72 / APPENDIX A Health Habits Checklist --- p.85 / APPENDIX B Self-efficacy (Toward Health Habits) and Health Value Scales --- p.103 / APPENDIX C Multidimensional Health Locus of Control Scales --- p.104

by Yuen Mei Ling, Miranda. / Thesis (M.Sc.)--Chinese University of Hong Kong, 1989. / Bibliography: leaves 73-83.

Background: Diabetes mellitus type 2 is a growing disease that affects both adults and children. Common risk factors for developing diabetes type 2 are low physical activity and abdominal obesity. The disease can bring complications such as cardiovascular disease and hypoglycemia. Pre-diabetes is a pre-stage to develop diabetes mellitus type 2. However, lifestyle changes can prevent the progress of diabetes mellitus type 2. In order to make the lifestyle changes that are required, motivation is of great importance. Aim: The aim of this study was to describe experiences of furtherance and inhibitive motivational factors to lifestyle changes among persons with pre-diabetes and diabetes mellitus type 2. Method: The method used was a literature study based on qualitative research. The articles in the study were analyzed accordingly to Friberg's five step model and resulted in three themes and eight sub-themes. Results: The themes were; an internal motivating force, support from the surrounding as a motivational factor and inner and outer barriers that inhibit for the motivation. In order to support and motivate persons with pre-diabetes and diabetes mellitus type 2 the nurse must understand what it is that helps persons find the motivation to make lifestyle changes. Conclusion: Promoting and inhibiting motivational factors for lifestyle changes varies from person to person. / Diabetes mellitus typ 2 är en sjukdom som ökar i hela världen. Prediabetes är ett förstadium till diabetes mellitus typ 2. Tidigare forskning visar att livsstilsförändringar är grundläggande för att förhindra riskfaktorer och komplikationer. Motivation är en förutsättning hos personen med diabetes mellitus typ 2 för att genomföra och bibehålla en livsstilsförändring. Sjuksköterskan har en betydelsefull funktion genom att ge stöd och motivera personerna. Vad är det som anses främja och hindra motivationen? Detta examensarbete beskriver personers erfarenheter av faktorer som främjade och hindrade motivationen till livsstilsförändringar vid prediabetes och diabetes mellitus typ 2. Tio artiklar som behandlar ämnet har bearbetats och utifrån dessa har teman utformats. Resultatet visade att inre drivkraft och stöd från omgivningen var betydelsefulla motiverande faktorer till skillnad från inre och yttre barriärer som istället var hindrade för motivationen. Den inre drivkraften är viktig men individuell och sjuksköterskan bör ha ett personcentrerat förhållningssätt för att kartlägga vad som anses motiverande till livsstilsförändring. Mer forskning krävs kring motiverande faktorer till livsstilsförändringar samt sjuksköterskans förmåga att kunna motivera.

廣泛的區域內和跨民族的轉錄變化反映了人類的適應和自然選擇。基因表達是轉化基因組信息為功能基因產品 - 蛋白質的主要機制。異常基因的表達和疾病的發病機制有關。基因組革命提供了獨特的機會為複雜的人類轉錄組進行全面的研究。轉錄分析需要複雜的生物信息學方法。在技術角度，一個實證模型用了哺乳動物基因組中內含子長度幾何尾分佈的定律準確地確定剪接交界處和非唯一映射讀取的位置。這種方法在處理非唯一映射讀取比BWA更好。這方法還比其他工具檢測出更多已經實驗證實的剪接交界處。核糖核酸測序首先用於北京漢人和西歐之間的表達表型與的轉錄變化的詳盡研究。民族的具體剪接交界處被發現。此外，民族的具體特點體現在相對異構體的豐度差。最後，這分子表型剪接頻譜的變化在不同種族之間的不同表明了另一個描繪種族多樣性的方法，核糖核酸測序還被用於探索的一種複雜的疾病：二型糖尿病的分子異常。二型糖尿病表現在廣泛不同的基因表達。（1）這研究證實先前公佈的全基因組關聯研究;（2）改善策劃不佳的位點和（3）發現新型2型糖尿病相關的基因。本研究通過整合各種改變的信號，並在一個高度可信的基因 - 基因相互作用網絡進行解釋，增強表達異常在2型糖尿病的認識。在更廣泛的69×79的情況下，對照組的結果進行了驗證。本研究增強表達異常在2型糖尿病的認識。 / Extensive intra- and inter- ethnic transcriptome variation reflects human adaptation and natural selection. Gene expression is the primary mechanism that translates genome information into functional gene product that lead to physiological phenotypes. Aberrant gene expression has been associated to the pathogenesis of diseases. The genome revolution has offered unique opportunity for a comprehensive interrogation of the complexity of human transcriptome. Analysis of transcriptome using RNA-Seq requires sophisticated bioinformatics approach. In a technical perspective, an empirical model based on the geometric-tail distribution of intron lengths in mammalian genome was developed to accurately determine splice junctions from junction reads and locations of non-uniquely mapped reads. Such method handles non-uniquely mapped reads better than BWA. The method can also detect more experimentally confirmed splice junction than other tools. Expressional phenotyping was employed to explore global transcriptomic variation between Beijing Han Chinese and Western European. In addition to inter-ethnic variations in gene expression, ethnic specific splice juctions were found. Further, ethnic specific trait manifests in differential relative isoform abundance. Lastly, such spectrum of variations was different between different ethnic groups, suggesting alternative splicing as another molecular phenotype that delineates ethnic diversity. Expressional phenotyping was then used in a case-control study to explore the molecular abnormalities of a complex disease: Type 2 Diabetes (T2DM). T2DM manifested in wide-spread repression of gene expression. The study (1) confirmed previously reported Genome-wide Association Study (GWAS) loci; (2) curated poorly characteriezed GWAS loci and (3) discovered novel T2DM associated genes. By integrating various alteration signals and interpretation performed in a highly confident gene-gene interaction network, this study augmented the understanding of expressed abnormalities in T2DM. The results were validated in a broader 69 x 79 case-control group. / Detailed summary in vernacular field only. / Li, Jing Woei. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2012. / Includes bibliographical references (leaves 118-130). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese. / Abstract --- p.v / 中文擇要 --- p.vi / Thesis/Assessment Committee --- p.ix / Acknowledgement --- p.ix / List of figures --- p.x / List of tables --- p.xii / List of Abbreviations --- p.xiii / Scientific contributions --- p.xv / List of Publication(s) related to this thesis --- p.xvi / Conference presentations --- p.xvii / Chapter Chapter 1: --- Introduction and Literature Reviews --- p.1 / Chapter 1.1 --- The variable human transcriptome --- p.1 / Chapter 1.2 --- Significance of variation in gene expression and transcript variants --- p.2 / Chapter 1.3 --- Transcriptomic study in a technological perspective --- p.8 / Chapter 1.3.1 --- Microarray: Probing what was designed to be probed --- p.8 / Chapter 1.3.2 --- RNA-Seq: the ab initio decoder of biological sequences --- p.9 / Chapter 1.4 --- Analysis of RNA-Seq data --- p.10 / Chapter 1.4.1 --- The bioinformatics challenges prevail --- p.10 / Chapter 1.4.2 --- Identifying changes in gene expression --- p.16 / Chapter 1.4.3 --- Identifying splice site, quantification of isoform level expression --- p.17 / Chapter 1.5 --- Conclusion --- p.19 / Chapter 1.6 --- Aims of this study --- p.20 / Chapter 1.6.1 --- Splice junction determination --- p.20 / Chapter 1.6.2 --- Expressional phenotyping in ethnical context --- p.20 / Chapter 1.6.3 --- Expressional phenotyping in a disease context --- p.20 / Chapter Chapter 2: --- Detection of splicing events --- p.21 / Chapter 2.1 --- Abstract --- p.21 / Chapter 2.2 --- Introduction --- p.22 / Chapter 2.3 --- Methods and workflow --- p.25 / Chapter 2.4 --- Algorithm --- p.29 / Chapter 2.5 --- Geometric-tail distribution --- p.32 / Chapter 2.6 --- Insert-size distribution --- p.33 / Chapter 2.7 --- Multiread analysis --- p.34 / Chapter 2.7.1 --- GT model probably places multiread more accurately than BWA --- p.35 / Chapter 2.8 --- Splice-site comparison --- p.37 / Chapter 2.8.1 --- GT model discovers more experimentally confirmed splice junction --- p.37 / Chapter 2.8.2 --- GT model is highly accurate --- p.39 / Chapter 2.9 --- Discussion --- p.40 / Chapter 2.10 --- Limitation --- p.40 / Chapter Chapter 3: --- Transcriptomic variation in a ethnicity context --- p.41 / Chapter 3.1 --- Abstract --- p.41 / Chapter 3.2 --- Introduction --- p.42 / Chapter 3.3 --- Materials and Methods --- p.46 / Chapter 3.3.1 --- HapMap lymphoblastoid cell-lines --- p.46 / Chapter 3.3.2 --- Sequenced samples --- p.48 / Chapter 3.3.3 --- Paired-end RNA-Seq, dataset and reads processing --- p.48 / Chapter 3.3.4 --- Genome reference and annotation --- p.49 / Chapter 3.3.5 --- Strategies for reads mapping --- p.49 / Chapter 3.3.6 --- Pathway and Gene Ontology analysis --- p.50 / Chapter 3.3.7 --- Differential gene expression analysis --- p.50 / Chapter 3.3.8 --- Ethnic specific splice junction --- p.51 / Chapter 3.3.9 --- Junction sites saturation analysis --- p.51 / Chapter 3.3.10 --- Ethnical novel transcribed regions --- p.52 / Chapter 3.3.11 --- Isoform dynamics and meta-analysis --- p.53 / Chapter 3.4 --- Result --- p.54 / Chapter 3.4.1 --- Paired-end RNA-Seq --- p.54 / Chapter 3.4.2 --- Differential gene expression and meta-analysis --- p.56 / Chapter 3.4.3 --- Ethnic specific splice junction is rare --- p.58 / Chapter 3.4.4 --- Saturation of discovery of highly confident annotated junctions --- p.59 / Chapter 3.4.5 --- Novel transcribed regions --- p.62 / Chapter 3.4.6 --- Isoform dynamics and meta-analysis --- p.63 / Chapter 3.5 --- Discussion --- p.66 / Chapter 3.6 --- Limitations --- p.67 / Chapter 3.6.1 --- HapMap LCLs may not reflect the entire spectrum of natural variation --- p.67 / Chapter 3.6.2 --- Sequencing depth and the usefulness of published dataset --- p.67 / Chapter 3.6.3 --- Knowledge gap in understanding of the human genome --- p.69 / Chapter Chapter 4: --- Transcriptomic investigation of complex disease: Type 2 Diabetes --- p.70 / Chapter 4.1 --- Abstract --- p.70 / Chapter 4.2 --- Introduction --- p.72 / Chapter 4.3 --- Materials and Methods --- p.75 / Chapter 4.3.1 --- Subjects --- p.75 / Chapter 4.3.2 --- Strand-specific RNA-Seq Library Construction --- p.77 / Chapter 4.3.3 --- Genome annotation sequencing reads processing --- p.81 / Chapter 4.3.4 --- Reads mapping for expression analysis --- p.82 / Chapter 4.3.5 --- Differential Gene expression analysis --- p.82 / Chapter 4.3.6 --- GWAS candidate genes --- p.83 / Chapter 4.3.7 --- Individual network, pathway and Gene Ontology analysis --- p.83 / Chapter 4.3.8 --- Alternative Splicing Variation --- p.83 / Chapter 4.3.9 --- Reads mapping and processing for expressed genomic variants discovery --- p.84 / Chapter 4.3.10 --- Expressed and functional genomic variants --- p.85 / Chapter 4.3.11 --- Screening for gene fusion --- p.86 / Chapter 4.3.12 --- Sense and Antisense analysis --- p.86 / Chapter 4.3.13 --- Integrated multi-level T2DM alternations gene interaction network --- p.87 / Chapter 4.3.14 --- Validation of selected genes --- p.87 / Chapter 4.4 --- Results --- p.88 / Chapter 4.4.1 --- High quality strand-specific pair-ended RNA-Seq facilitated downstream analyses --- p.88 / Chapter 4.4.2 --- Definition of significance --- p.91 / Chapter 4.4.3 --- Wide-spread repressed gene expression in T2DM --- p.91 / Chapter 4.4.4 --- Confirmation and curation of T2DM GWAS loci by RNA-Seq --- p.92 / Chapter 4.4.5 --- Global expression alteration on T2DM associated genes --- p.97 / Chapter 4.4.6 --- Alteration of relative splicing isoforms variations and T2DM specific isoforms --- p.100 / Chapter 4.4.7 --- Rare and deleterious SNPs --- p.100 / Chapter 4.4.8 --- Absence of alteration in Sense/Antisense ratio and expressed fusion gene --- p.101 / Chapter 4.4.9 --- T2DM manifests a broad spectrum of expressed abnormalities --- p.101 / Chapter 4.4.10 --- Pathway-based integration of multiple levels of alteration expanded the T2DM network --- p.103 / Chapter 4.4.11 --- Validation of selected genes --- p.107 / Chapter 4.5 --- Discussion --- p.108 / Chapter Chapter 5: --- Conclusions and future perspectives --- p.115 / Chapter 5.1 --- Conclusions --- p.115 / Chapter 5.2 --- Future perspective --- p.115 / Chapter 5.2.1 --- Splicing detection --- p.115 / Chapter 5.2.2 --- Studies related to ethnicity --- p.116 / Chapter 5.2.3 --- Complex diseases --- p.116 / References --- p.118 / Appendix --- p.131