BOOK
Genomics in Rheumatic Diseases, An Issue of Rheumatic Disease Clinics of North America, E-Book
S. Louis Bridges, Jr. | Carl D. Langefeld
(2017)
Additional Information
Book Details
Abstract
This issue of Rheumatic Disease Clinics focuses on Genetics. Article topics cover: Genetic Influences on Susceptibility and Severity of Rheumatoid Arthritis; HLA-disease associations in rheumatoid arthritis; Autoinflammatory Syndromes as a Model of Monogenic Diseases; Genomic Influences on Hyperuricaemia and Gout; Genetics of Systemic Lupus Erythematosus; Genetics of Ankylosing Spondylitis;Genetics of Scleroderma; Genetics of Osteoarthritis; Genetics of Juvenile Inflammatory Arthritis; Genetic Influences on Treatment Response in Rheumatic Diseases; Integrative approaches/computational biology; Future directions of genetic research in rheumatic diseases; and Population genetics and natural selection in rheumatic disease.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Genomics in RheumaticDiseases\r | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| CONSULTING EDITOR | iii | ||
| EDITORS | iii | ||
| AUTHORS | iii | ||
| Contents\r | vii | ||
| Foreword: Genomics in Rheumatic Diseases\r | vii | ||
| Preface: Genomics in Rheumatic Diseases: Hope for the Future\r | vii | ||
| Population Genetics and Natural Selection in Rheumatic Disease \r | vii | ||
| Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Disease\r | vii | ||
| Genomic Influences on Susceptibility and Severity of Rheumatoid Arthritis\r | vii | ||
| Human Leukocyte Antigen–Disease Associations in Rheumatoid Arthritis\r | viii | ||
| Precision Medicine in Rheumatoid Arthritis\r | viii | ||
| Genomic Influences on Hyperuricemia and Gout\r | viii | ||
| Genetics and the Causes of Ankylosing Spondylitis\r | viii | ||
| Genomics of Systemic Lupus Erythematosus: Insights Gained by Studying Monogenic Young-Onset Systemic Lupus Erythematosus\r | ix | ||
| Genetics of Juvenile Idiopathic Arthritis\r | ix | ||
| Integrative Approaches to Understanding the Pathogenic Role of Genetic Variation in Rheumatic Diseases\r | ix | ||
| Drug Repositioning Strategies for the Identification of Novel Therapies for Rheumatic Autoimmune Inflammatory Diseases\r | ix | ||
| Future Directions of Genomics Research in Rheumatic Diseases\r | x | ||
| Special Article | x | ||
| A Review of Systemic Corticosteroid Use in Pregnancy and the Risk of Select Pregnancy and Birth Outcomes489 | x | ||
| RHEUMATIC DISEASE CLINICS\rOF NORTH AMERICA\r | xi | ||
| FORTHCOMING ISSUES | xi | ||
| November 2017 | xi | ||
| February 2018 | xi | ||
| RECENT ISSUES | xi | ||
| May 2017 | xi | ||
| February 2017 | xi | ||
| November 2016 | xi | ||
| Foreword:\rGenomics in Rheumatic Diseases | xiii | ||
| Preface:\rGenomics in Rheumatic Diseases: Hope for the Future | xv | ||
| Population Genetics and Natural Selection in Rheumatic Disease | 313 | ||
| Key points | 313 | ||
| INTRODUCTION | 313 | ||
| SHARED GENETIC ETIOLOGY IN RHEUMATIC DISEASES | 314 | ||
| POPULATION GENETICS, NATURAL SELECTION, AND ADAPTATION | 315 | ||
| NATURAL SELECTION IN RHEUMATIC DISEASE | 316 | ||
| AGENTS OF SELECTION | 320 | ||
| SUMMARY | 322 | ||
| REFERENCES | 323 | ||
| Genomics, Biology, and Human Illness | 327 | ||
| Key points | 327 | ||
| INTRODUCTION | 328 | ||
| THE DEUBIQUITINASE DEFICIENCIES | 328 | ||
| Haploinsufficiency of A20 | 328 | ||
| Otulipenia/OTULIN-Related Autoinflammatory Syndrome | 330 | ||
| DEFICIENCY OF ADENOSINE DEAMINASE 2 | 331 | ||
| TYPE I INTERFERONOPATHIES | 334 | ||
| Stimulator of Interferon Genes–Associated Vasculopathy with Onset in Infancy | 335 | ||
| Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature/Proteasome-Associated Autoinflammatory ... | 336 | ||
| NLRC4-RELATED AUTOINFLAMMATORY SYNDROMES | 336 | ||
| RECENT ADVANCES IN FAMILIAL MEDITERRANEAN FEVER AND THE PYRIN INFLAMMASOME | 338 | ||
| SUMMARY | 340 | ||
| REFERENCES | 341 | ||
| Genomic Influences on Susceptibility and Severity of Rheumatoid Arthritis | 347 | ||
| Key points | 347 | ||
| INTRODUCTION | 347 | ||
| GENETICS OF RHEUMATOID ARTHRITIS SUSCEPTIBILITY | 348 | ||
| Human Leukocyte Antigen in Rheumatoid Arthritis Susceptibility | 348 | ||
| Non–Human Leukocyte Antigen Genetic Variants in Rheumatoid Arthritis Susceptibility | 349 | ||
| Constructing Clinically Applicable Models for Rheumatoid Arthritis Susceptibility | 354 | ||
| Rheumatoid Arthritis Heterogeneity | 355 | ||
| GENETIC INFLUENCES ON RHEUMATOID ARTHRITIS SEVERITY | 355 | ||
| Human Leukocyte Antigen and Rheumatoid Arthritis Joint Destruction | 355 | ||
| Non–Human Leukocyte Antigen Genetic Variants in Rheumatoid Arthritis Joint Destruction | 356 | ||
| Constructing Clinically Applicable Models for Rheumatoid Arthritis Severity | 356 | ||
| DISCUSSION AND FUTURE PERSPECTIVES | 356 | ||
| REFERENCES | 358 | ||
| Human Leukocyte Antigen–Disease Associations in Rheumatoid Arthritis | 363 | ||
| Key points | 363 | ||
| INTRODUCTION | 364 | ||
| Human Leukocyte Antigen Genes and Their Products | 364 | ||
| Human Leukocyte Antigen–Associated Diseases | 365 | ||
| HUMAN LEUKOCYTE ANTIGEN-RHEUMATOID ARTHRITIS ASSOCIATIONS | 366 | ||
| The Shared Epitope | 366 | ||
| Ethnic and Racial Factors That Affect Shared Epitope–Rheumatoid Arthritis Association | 366 | ||
| Shared Epitope and Anticitrullinated Protein Antibodies | 367 | ||
| Shared epitope–environment interaction | 368 | ||
| Protective DRB1 Alleles | 369 | ||
| Non–Shared Epitope–coding Human Leukocyte Antigen Alleles in Rheumatoid Arthritis | 369 | ||
| Associations with Non–Human Leukocyte Antigen Genes | 370 | ||
| REFERENCES | 370 | ||
| Precision Medicine in Rheumatoid Arthritis | 377 | ||
| Key points | 377 | ||
| INTRODUCTION | 377 | ||
| STUDIES INVESTIGATING GENOMIC PREDICTORS OF METHOTREXATE | 378 | ||
| STUDIES INVESTIGATING GENOMIC PREDICTORS OF RESPONSE TO TUMOR NECROSIS FACTOR INHIBITOR | 379 | ||
| WHOLE-GENOME STUDIES | 381 | ||
| AND RESPONSE TO TUMOR NECROSIS FACTOR INHIBITOR | 382 | ||
| DISCUSSION | 382 | ||
| THE FUTURE | 383 | ||
| REFERENCES | 384 | ||
| Genomic Influences on Hyperuricemia and Gout | 389 | ||
| Key points | 389 | ||
| INTRODUCTION | 389 | ||
| GENOME-WIDE ASSOCIATION STUDIES IN URATE | 390 | ||
| SLC2A9 | 391 | ||
| ABCG2 | 391 | ||
| OTHER URATE LOCI | 393 | ||
| (GXG) INTERACTIONS | 393 | ||
| MENDELIAN RANDOMIZATION AS A GENETIC EPIDEMIOLOGICAL TOOL TO DISENTANGLE CAUSAL RELATIONSHIPS | 395 | ||
| GENOME-WIDE ASSOCIATION STUDIES IN GOUT | 395 | ||
| REFERENCES | 396 | ||
| Genetics and the Causes of Ankylosing Spondylitis | 401 | ||
| Key points | 401 | ||
| INTRODUCTION | 401 | ||
| MAJOR HISTOCOMPATIBILITY COMPLEX AND ANKYLOSING SPONDYLITIS | 402 | ||
| AMINOPEPTIDASES AND ANKYLOSING SPONDYLITIS | 403 | ||
| T CELLS AND ANKYLOSING SPONDYLITIS | 404 | ||
| PLEIOTROPY AND ANKYLOSING SPONDYLITIS | 406 | ||
| KILLER IMMUNOGLOBULIN-LIKE RECEPTORS | 407 | ||
| SUMMARY | 410 | ||
| REFERENCES | 410 | ||
| Genomics of Systemic Lupus Erythematosus | 415 | ||
| Key points | 415 | ||
| COMPLEMENT DEFICIENCIES | 416 | ||
| Removal of Apoptotic Cells and Immune Complexes | 416 | ||
| Complement Receptors are Important in Immune Tolerance | 416 | ||
| Control of Dendritic Cell Cytokine Production | 416 | ||
| C1q | 418 | ||
| C1s/C1r | 418 | ||
| C4 | 419 | ||
| C2 | 419 | ||
| ABNORMAL TYPE 1 INTERFERON PRODUCTION (INTERFERONOPATHIES) | 420 | ||
| Type 1 Interferons | 420 | ||
| DNA Sensing | 420 | ||
| RNA Sensing | 420 | ||
| Aicardi-Goutières Syndrome | 421 | ||
| TREX1 | 423 | ||
| TREX1 and systemic lupus erythematosus | 423 | ||
| IFIH1 and MDA5 | 424 | ||
| SAMHD1 | 424 | ||
| RNaseH2 | 424 | ||
| ADAR1 (adenosine deaminase acting on RNA1) | 425 | ||
| Familial Chilblain Lupus (FCL) | 425 | ||
| Stimulator of Interferon Genes (STING) and Stimulator of Interferon Gene –Associated Vasculopathy with Onset in Infancy (SAVI) | 426 | ||
| VARIANTS IN DNA ENDONUCLEASES | 427 | ||
| DNases | 427 | ||
| DNASE1 | 427 | ||
| DNases 1L3 | 427 | ||
| Hypocomplementemic urticarial vasculitis | 428 | ||
| SUMMARY | 429 | ||
| REFERENCES | 429 | ||
| Genetics of Juvenile Idiopathic Arthritis | 435 | ||
| Key points | 435 | ||
| INTRODUCTION | 435 | ||
| GENETICS OF JUVENILE IDIOPATHIC ARTHRITIS | 436 | ||
| FAMILIAL AGGREGATION OF JUVENILE IDIOPATHIC ARTHRITIS | 436 | ||
| GENOMEWIDE STUDIES OF JUVENILE IDIOPATHIC ARTHRITIS | 436 | ||
| REPLICATED GENETIC ASSOCIATIONS WITH JUVENILE IDIOPATHIC ARTHRITIS | 440 | ||
| Genes Associated with Multiple Autoimmune Conditions, Including Juvenile Idiopathic Arthritis | 440 | ||
| Genes Primarily Associated with Juvenile Idiopathic Arthritis Categories | 440 | ||
| Oligoarticular juvenile idiopathic arthritis or polyarticular rheumatoid factor–negative juvenile idiopathic arthritis | 440 | ||
| Systemic-onset juvenile idiopathic arthritis | 441 | ||
| Enthesitis-related arthritis | 442 | ||
| Psoriatic arthritis | 442 | ||
| PHARMACOGENOMICS | 442 | ||
| REFERENCES | 444 | ||
| Integrative Approaches to Understanding the Pathogenic Role of Genetic Variation in Rheumatic Diseases | 449 | ||
| Key points | 449 | ||
| INTRODUCTION | 450 | ||
| HERITABILITY OF RHEUMATIC DISEASES | 450 | ||
| HIGH-THROUGHPUT OMICS APPROACHES THAT CAN BE INTEGRATED WITH GENETIC DATA TO UNDERSTAND RHEUMATIC DISEASES | 454 | ||
| Gene Expression | 454 | ||
| RNA-seq | 454 | ||
| Expression quantitative trait loci | 455 | ||
| Epigenetics/Epigenomics | 455 | ||
| Proteomics and Metabolomics | 456 | ||
| Cell-Specific and Tissue-Specific Gene Expression: Influence on Integrated Multi-Omic Analysis of Rheumatic Diseases | 457 | ||
| APPROACHES TO DATA INTEGRATION | 457 | ||
| Multistage Analysis | 457 | ||
| Metadimensional Analysis | 458 | ||
| Selected Insights Gleaned from Integrative Analyses | 458 | ||
| PRIORITIZATION OF GENOMIC VARIANTS/PATHWAYS FOR FUNCTIONAL ANALYSIS | 459 | ||
| The Probabilistically Identified Causal Single-Nucleotide Polymorphism Algorithm | 459 | ||
| The Probabilistic Annotation INTegratOR Algorithm | 459 | ||
| The Molecular Interaction Network-Based Ranking Algorithm | 460 | ||
| METHODS FOR EXPLORATION OF RELATIONSHIPS BETWEEN CLINICAL PHENOTYPES | 460 | ||
| FUNCTIONAL VALIDATION OF PATHOGENIC REGULATORY VARIATION IN COMPLEX DISEASE | 461 | ||
| SUMMARY | 461 | ||
| REFERENCES | 462 | ||
| Drug Repositioning Strategies for the Identification of Novel Therapies for Rheumatic Autoimmune Inflammatory Diseases | 467 | ||
| Key points | 467 | ||
| INTRODUCTION | 467 | ||
| PREDICTING DRUGS THAT BIND PROTEIN PRODUCTS OF GENES ABNORMALLY EXPRESSED IN DISEASE | 469 | ||
| USING MOLECULAR ACTIVITY SIMILARITY TO PREDICT DRUGS FROM DIFFERENTIALLY EXPRESSED GENE PROFILES | 471 | ||
| DRUG PREDICTIONS FROM TRANSLATIONAL BIOINFORMATICS (GENOME-WIDE ASSOCIATION STUDIES, PHENOME-WIDE ASSOCIATION STUDIES) | 474 | ||
| USING MACHINE LEARNING/DATABASES TO IDENTIFY DISEASE-DRUG AND GENE-DRUG RELATIONSHIPS | 476 | ||
| SUMMARY | 478 | ||
| REFERENCES | 478 | ||
| Future Directions of Genomics Research in Rheumatic Diseases | 481 | ||
| Key points | 481 | ||
| BACKGROUND | 481 | ||
| ROLES OF THE MAJOR HISTOCOMPATIBILITY REGION TO RISK OF RHEUMATIC DISEASES | 482 | ||
| GENOME-WIDE ASSOCIATION STUDIES IDENTIFIED MANY NON–MAJOR HISTOCOMPATIBILITY COMPLEX RISK GENES | 483 | ||
| INSIGHTS INTO DISEASE BIOLOGY | 483 | ||
| FUTURE DIRECTIONS TOWARD DRUG DISCOVERY | 484 | ||
| ACKNOWLEDGMENTS | 485 | ||
| REFERENCES | 485 | ||
| A Review of Systemic Corticosteroid Use in Pregnancy and the Risk of Select Pregnancy and Birth Outcomes | 489 | ||
| Key points | 489 | ||
| INTRODUCTION | 489 | ||
| CORTICOSTEROIDS AND THE PLACENTA | 490 | ||
| ADVERSE PREGNANCY AND BIRTH OUTCOMES | 490 | ||
| LITERATURE REVIEW | 491 | ||
| ORAL CLEFTS | 491 | ||
| PRETERM BIRTH AND LOW BIRTH WEIGHT | 494 | ||
| LOW BIRTH WEIGHT | 494 | ||
| PRETERM BIRTH | 494 | ||
| PREECLAMPSIA | 496 | ||
| GESTATIONAL DIABETES MELLITUS | 498 | ||
| SUMMARY AND CONSIDERATIONS FOR FURTHER RESEARCH | 498 | ||
| REFERENCES | 499 |