Determining dependency and redundancy for identifying gene–gene interaction associated with complex disease

2020 ◽  
Vol 18 (05) ◽  
pp. 2050035
Author(s):  
Xiangdong Zhou ◽  
Keith C. C. Chan ◽  
Zhihua Huang ◽  
Jingbin Wang

As interactions among genetic variants in different genes can be an important factor for predicting complex diseases, many computational methods have been proposed to detect if a particular set of genes has interaction with a particular complex disease. However, even though many such methods have been shown to be useful, they can be made more effective if the properties of gene–gene interactions can be better understood. Towards this goal, we have attempted to uncover patterns in gene–gene interactions and the patterns reveal an interesting property that can be reflected in an inequality that describes the relationship between two genotype variables and a disease-status variable. We show, in this paper, that this inequality can be generalized to [Formula: see text] genotype variables. Based on this inequality, we establish a conditional independence and redundancy (CIR)-based definition of gene–gene interaction and the concept of an interaction group. From these new definitions, a novel measure of gene–gene interaction is then derived. We discuss the properties of these concepts and explain how they can be used in a novel algorithm to detect high-order gene–gene interactions. Experimental results using both simulated and real datasets show that the proposed method can be very promising.

2017 ◽  
Vol 27 (10) ◽  
pp. 2933-2945 ◽  
Author(s):  
Sarah C Emerson ◽  
Sushrut S Waikar ◽  
Claudio Fuentes ◽  
Joseph V Bonventre ◽  
Rebecca A Betensky

Motivated by the goal of evaluating a biomarker for acute kidney injury, we consider the problem of assessing operating characteristics for a new biomarker when a true gold standard for disease status is unavailable. In this case, the biomarker is typically compared to another imperfect reference test, and this comparison is used to estimate the performance of the new biomarker. However, errors made by the reference test can bias assessment of the new test. Analysis methods like latent class analysis have been proposed to address this issue, generally employing some strong and unverifiable assumptions regarding the relationship between the new biomarker and the reference test. We investigate the conditional independence assumption that is present in many such approaches and show that for a given set of observed data, conditional independence is only possible for a restricted range of disease prevalence values. We explore the information content of the comparison between the new biomarker and the reference test, and give bounds for the true sensitivity and specificity of the new test when operating characteristics for the reference test are known. We demonstrate that in some cases these bounds may be tight enough to provide useful information, but in other cases these bounds may be quite wide.


2010 ◽  
Vol 80 (45) ◽  
pp. 319-329 ◽  
Author(s):  
Allyson A. West ◽  
Marie A. Caudill

Folate and choline are water-soluble micronutrients that serve as methyl donors in the conversion of homocysteine to methionine. Inadequacy of these nutrients can disturb one-carbon metabolism as evidenced by alterations in circulating folate and/or plasma homocysteine. Among common genetic variants that reside in genes regulating folate absorptive and metabolic processes, homozygosity for the MTHFR 677C > T variant has consistently been shown to have robust effects on status markers. This paper will review the impact of genetic variants in folate-metabolizing genes on folate and choline bioefficacy. Nutrient-gene and gene-gene interactions will be considered along with the need to account for these genetic variants when updating dietary folate and choline recommendations.


Author(s):  
Oleksii Chepov ◽  

The qualitative and clear definition of the legal regime of the capital of Ukraine, the hero city of Kyiv, is influenced by its legislative enshrinement, however, it should be noted that discussions are ongoing and one of the reasons for the unclear legal status of the capital is the ambiguity of current legislation in this area. Separation of the functions of the city of Kyiv, which are carried out to ensure the rights of citizens of Ukraine and the functions that guarantee the rights of the territorial community of the city of Kyiv. In the modern world, in legal doctrine and practice, the capital is understood as the capital of the country, which at the legislative level received this status and, accordingly, is the administrative and political center of the state, which houses the main state bodies and diplomatic missions of other states. It is the identification of the boundaries of the relationship between the competencies of state administrations and local self-government, in practice, often raises questions about their delimitation and ways of regulatory solution. Peculiarities of local self-government in Kyiv city districts are defined in the provisions of the Law on the Capital, which reveal the norms of the Constitution in these legal relations, according to which the issue of organizing district management in cities belongs to city councils. Likewise, it is unregulated by law to lose the particularity of the legal status of the territory of the city. It should be emphasized that the subject of administrative-legal relations is not a certain administrative-territorial entity, but the social group is designated - the territorial community of the city of Kiev, kiyani. Thus, the provisions on the city of Kyiv partially ignore the potential of the territorial community.


2018 ◽  
Vol 2 (2) ◽  
pp. 99 ◽  
Author(s):  
Dwiyanto Indiahono ◽  
Erwan Purwanto ◽  
Agus Pramusinto

This research aims to examine differences in the relationship of bureaucratic and political officials during the New Order (Soeharto’s era) and the Reformation (post-Soeharto) era within the arena of public policy implementation. This is a matter of importance given that there is a change in relations between the two from integration in the New Order to bureaucratic impartiality in the Reformation Era. This study attempts to answer the question: How were the relations of bureaucratic and political officials in the implementation of local level public policy during the New Order and the Reformation Era? A qualitative research has been conducted in Tegal Municipality using the following data collection techniques: interview, focus group discussion, documentation, and observation. Tegal Municipality was selected as the study location because of the unique relationship shown between the mayor and the bureaucracy. Its uniqueness lies in the emergence of bureaucratic officials who dare to oppose political officials, based on their convictions that bureaucratic/public values should be maintained even if it means having to be in direct conflict with political officials. This research indicates that the relationship between bureaucratic and political officials in the arena of local level policy implementation during the New Order was characterized as being full of pressure and compliance, whereas during the Reformation Era bureaucrats have the audacity to hinder policy implementation. Such audacity to thwart policies is considered to have developed from a stance that aims to protect public budget and values in policies. The occurring conflict of values here demonstrates a dichotomy of political and bureaucratic officials that is different from the prevailing definition of politics-administration dichotomy introduced at the onset of Public Administration studies.


Author(s):  
Natalia Popova

The concept of Europeanization has become quite fashionable in EU studies in recent years. It is often used for the analysis of the relations between the EU and non-member states. The aim of the article is to examine the possibilities of its application in explaining the relationship between the EU and Ukraine. The structure of the article is as follows: firstly, the concept of Europeanization is defined considering such two disputable issues as distinguishing among concepts of Europeanization and European integration as well as Europeanization and EU-ization. Next, the evolution of the theoretical research of Europeanization and definition of this concept are analyzed. Two main mechanisms of Europeanization (conditionality and socialization) are examined. The author considers main approaches to the analysis of the "external" Europeanization emphasizing the concept of "external governance". Three groups of factors which influence the effectiveness of Europeanization are briefly analyzed. And finally, the peculiarities of application of the Europeanization concept to the Ukraine-EU relations are outlined. Keywords: EU, Ukraine, Europeanization, EU-ization, ‘external’ Europeanization, conditionality, socialization, concept of ‘external governance’


Author(s):  
Суусар Искендерова

Аннотация: Исследование проблемы фольклоризма является наиболее актуальной в современной науке о фольклоре. На разных этапах развития художественной литературы для формирования индивидуального творчества писателя особенно значимым становятся фольклорные жанры, сюжетные мотивы и художественные средства. В статье рассматривается связь письменной литературы и фольклора, особенно точка зрения проблеме фольклоризма в прошлом и их анализ. Термин «фольклоризм» начал использоваться советскими исследователями учеными как научный термин еще в 1930-х гг. Термин «фольклоризм» используется в различных сферах культуры, а в этой статье мы будем рассматривать в литературе. Несмотря на то, что на протяжении многих лет этот вопрос изучается литературоведами, фольклористами, все -таки нет единого теоретического определения понятия. Ключевые слова: фольклор, фольклоризм, литература, культура, письменная литература, художественная литература, оседлый народ, пословицы и поговорки, фольклорные песни. Аннотация: Көркөм адабияттын өнүгүүсүнүн ар кайсы баскычтарында сүрөткердин жеке чыгармачылыгынын калыптанышы үчүн фольклордук жанрлар, сюжеттер, мотивдер жана көркөм каражаттар айрыкча мааниге ээ. Макалада жазма адабият менен фольклордук карым-катышы, айрыкча фольклоризм маселеси жөнүндө мурдагы көз караштарга кайрылып, аларга талдоо жүргүзүү менен бирге автор өз байкоолорунда келтирет. “Фольклоризм” деген илимий термин 1930-жылы баштап колдонула баштаган. “Фольклоризм” термини маданияттын түрдүү сфераларында кеңири колдо- нулат, бул жерде адабияттагы колдонулушун каралат. Макалада адабий материал менен фольклордук байланышын терең түшүнүү үчүн адабий фольклоризм маселесинин талаштуу жактары каралат. Түйүндүү сөздөр: фольклор, фольклоризм, адабият, маданият, жазма адабият, көркөм адабият, көчмөн калк, макал-лакап, фольклордук ырлар. Annotation: The study of the problem of folklore is the most relevant in the modern science of folklore. At various stages in the development of fiction, folklore genres, plot motifs, and artistic means become especially significant for the formation of the writer's individual creativity. The article examines the relationship between written literature and folklore, especially the point of view of the problem of folklorism in the past and their analysis. The term "folklorism" began to be used by Soviet scholars as a scientific term back in the 1930s. The term "folklorism" is used in various fields of culture, and in this article we will consider in the literature. Despite the fact that for many years this issue has been studied by literary scholars, folklorists, all the same there is no single theoretical definition of the concept. Keywords: folklore, folklorism, literature, culture, written literature, fiction, settled people, proverbs and sayings, folk songs.


2020 ◽  
Vol 2 (2) ◽  
pp. 183
Author(s):  
Hisyam Ihsan ◽  
Muhammad Abdy ◽  
Samsu Alam B

Penelitian ini merupakan penelitian kajian pustaka yang bertujuan untuk mengkaji sifat-sifat submodul prima dan submodul prima lemah serta hubungan antara keduanya. Kajian dimulai dari definisi submodul prima dan submodul prima lemah, selanjutnya dikaji mengenai sifat-sifat dari keduanya. Pada penelitian ini, semua ring yang diberikan adalah ring komutatif dengan unsur kesatuan dan modul yang diberikan adalah modul uniter. Sebagai hasil dari penelitian ini diperoleh beberapa pernyataan yang ekuivalen, misalkan  suatu -modul ,  submodul sejati di  dan ideal di , maka ketiga pernyataan berikut ekuivalen, (1)  merupakan submodul prima, (2) Setiap submodul tak nol dari   -modul memiliki annihilator yang sama, (3) Untuk setiap submodul  di , subring  di , jika berlaku  maka  atau . Di lain hal, pada submodul prima lemah jika diberikan  suatu -modul,  submodul sejati di , maka pernyataan berikut ekuivalen, yaitu (1) Submodul  merupakan submodul prima lemah, (2) Untuk setiap , jika  maka . Selain itu, didapatkan pula hubungan antara keduanya, yaitu setiap submodul prima merupakan submodul prima lemah.Kata Kunci: Submodul Prima, Submodul Prima Lemah, Ideal Prima. This research is literature study that aims to examine the properties of prime submodules and weakly prime submodules and the relationship between  both of them. The study starts from the definition of prime submodules and weakly prime submodules, then reviewed about the properties both of them. Throughout this paper all rings are commutative with identity and all modules are unitary. As the result of this research, obtained several equivalent statements, let  be a -module,  be a proper submodule of  and  ideal of , then the following three statetments are equivalent, (1)  is a prime submodule, (2) Every nonzero submodule of   -module has the same annihilator, (3) For any submodule  of , subring  of , if  then  or . In other case, for weakly prime submodules, if given  is a unitary -module,  be a proper submodule of , then the following statements are equivalent, (1)  is a weakly prime submodule, (2) For any , if  then . In addition, also found the relationship between both of them, i.e. any prime submodule is weakly prime submodule.Keywords: Prime Submodules, Weakly Prime Submdules, Prime Ideal.


2019 ◽  
Vol 26 (34) ◽  
pp. 6207-6221 ◽  
Author(s):  
Innocenzo Rainero ◽  
Alessandro Vacca ◽  
Flora Govone ◽  
Annalisa Gai ◽  
Lorenzo Pinessi ◽  
...  

Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases, migraine is transmitted as a monogenic disorder, and the disease phenotype cosegregates with mutations in different genes like CACNA1A, ATP1A2, SCN1A, KCNK18, and NOTCH3. In the common forms of migraine, candidate genes as well as genome-wide association studies have shown that a large number of genetic variants may increase the risk of developing migraine. At present, few studies investigated the genotype-phenotype correlation in patients with migraine. The purpose of this review was to discuss recent studies investigating the relationship between different genetic variants and the clinical characteristics of migraine. Analysis of genotype-phenotype correlations in migraineurs is complicated by several confounding factors and, to date, only polymorphisms of the MTHFR gene have been shown to have an effect on migraine phenotype. Additional genomic studies and network analyses are needed to clarify the complex pathways underlying migraine and its clinical phenotypes.


Author(s):  
Johannes Lindvall

This chapter introduces the problem of “reform capacity” (the ability of political decision-makers to adopt and implement policy changes that benefit society as a whole, by adjusting public policies to changing economic, social, and political circumstances). The chapter also reviews the long-standing discussion in political science about the relationship between political institutions and effective government. Furthermore, the chapter explains why the possibility of compensation matters greatly for the politics of reform; provides a precise definition of the concept of reform capacity; describes the book's general approach to this problem; and discusses the ethics of compensating losers from reform; and presents the book's methodological approach.


Author(s):  
J. Donald Boudreau ◽  
Eric Cassell ◽  
Abraham Fuks

This book reimagines medical education and reconstructs its design. It originates from a reappraisal of the goals of medicine and the nature of the relationship between doctor and patient. The educational blueprint outlined is called the “Physicianship Curriculum” and rests on two linchpins. First is a new definition of sickness: Patients know themselves to be ill when they cannot pursue their purposes and goals in life because of impairments in functioning. This perspective represents a bulwark against medical attention shifting from patients to diseases. The curriculum teaches about patients as functional persons, from their anatomy to their social selves, starting in the first days of the educational program and continuing throughout. Their teaching also rests on the rock-solid grounding of medicine in the sciences and scientific understandings of disease and function. The illness definition and knowledge base together create a foundation for authentic patient-centeredness. Second, the training of physicians depends on and culminates in development of a unique professional identity. This is grounded in the historical evolution of the profession, reaching back to Hippocrates. It leads to reformulation of the educational process as clinical apprenticeships and moral mentorships. “Rebirth” in the title suggests that critical ingredients of medical education have previously been articulated. The book argues that the apprenticeship model, as experienced, enriched, taught, and exemplified by William Osler, constitutes a time-honored foundation. Osler’s “natural method of teaching the subject of medicine” is a precursor to the Physicianship Curriculum.


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