Since Cookson et al. first reported the association of atopy with chromosome 11q13 in 1989, there have been numerous studies of genetics for allergic diseases. Their aim is to identify genetic factors modifying susceptibility to allergic diseases, determining the severity of disease in affected individuals and affecting the response to treatment. With these efforts, allergic diseases can be termed complex genetic disorders, defined as disorders that have numerous contributing genes, each having variable degrees of involvement in any given individual. This review aims to provide information on the current state of genetic research in Korean pediatric allergic diseases.
Asthma ; Child* ; Genetic Research* ; Genetics ; Humans ; Hypersensitivity ; Korea ; Pediatrics

Allergic diseases mentioned in this review is regarding to I type allergic inflammation induced by an IgE-mediated reaction, including asthma, allergic rhinitis, atopic dermatitis and food allergy. It is convinced that allergic diseases belong to multiple genes diseases and are controlled by both genetic and environmental factors. Meanwhile there exists gene-gene as well as gene-environment interactions during the development of the disease. The aim of this review is to summarize the toolkit, advance, inherent difficulties and future clinical application prospect in genetic studies of allergic disease.
Asthma ; genetics ; Gene-Environment Interaction ; Humans ; Hypersensitivity ; genetics ; Immunoglobulin E ; Rhinitis, Allergic, Perennial ; genetics ; Rhinitis, Allergic, Seasonal ; genetics ; Risk Factors

Atopic dermatitis (AD) is a chronic relapsing inflammatory skin disease with severe pruritus, and the first step of atopic march since it often precedes asthma or allergic rhinitis. Since its etiology or pathogenesis is very complex and frequently changing, physicians cannot easily understand it in entirety. New insights into the genetics and pathophysiology of AD emphasize the crucial function of the skin barrier as well as abnormal immune response. In this review, the pathogenesis of AD is explained as the combined features of impaired skin barrier and abnormal immune response rather than each independent concept. Understanding the whole pathogenesis of AD may lead to early intervention and prevention of atopic march as well as proper clinical treatment.
Asthma ; Dermatitis, Atopic* ; Early Intervention (Education) ; Genetics ; Hypersensitivity ; Pruritus ; Rhinitis ; Skin ; Skin Diseases

Constitution factor plays an important role in the occurrence, development, and transformation of diseases. The occurrence of allergic diseases is mainly caused by the disorganized physiological function and suitability regulation of patients, except for their exposure to outside allergens. Moreover, it represents susceptibility and hypersensitivity to allergens. The current study expresses the concept of allergic constitution from the perspective of Chinese medicine (CM) and presents the criterion of allergic constitution. In addition, the distribution of allergic constitution in population, its factors, and its relation to health-related quality of life (HRQOL) were investigated. The HRQOL scores of allergic constitution were found to be lower than those of the Pinghe constitution. After making a study on the gene expression profile of allergic constitution, the characteristics of up-regulated or down-regulated genes were found. Finally, CM drug was researched and developed to improve allergic constitution. Based on clinical trials and animal experiments, CM is found to have good regulatory effects on allergic constitution.
Animals ; Gene Expression Profiling ; Humans ; Hypersensitivity ; epidemiology ; genetics ; psychology ; therapy ; Medicine, Chinese Traditional

The prevalence and patterns of food allergy are highly variable in different parts of the world. Differences in food allergy epidemiology may be attributed to a complex interplay of genetic, epigenetic, and environmental factors, suggesting that mechanisms of food allergy may differ in various global populations. Genetic polymorphisms, migration, climate, and infant feeding practices all modulate food allergy risk, and possibly also the efficacy of interventions aimed at primary prevention of food allergy development. Approaches to diagnosis, treatment, and prevention of food allergy should thus be tailored carefully to each population's unique genetic and environmental make-up. Future research in the context of food allergy prevention should focus on elucidating factors determining differential responses between populations.
Climate ; Dermatitis, Atopic ; Diagnosis ; Epidemiology ; Epigenomics ; Food Hypersensitivity* ; Genetics ; Humans ; Infant ; Polymorphism, Genetic ; Prevalence ; Primary Prevention

Antigen peptides are actively transported across the endoplasmic reticulum by the transporters associated with antigen presentation (TAP). TAP genes polymorphism could influence the selection process that determines which antigen peptides play a role in the pathogenesis of allergic rhinitis. The aim of this study was to investigate the association of TAP genes polymorphism with allergic rhinitis. TAP1 and TAP2 genotyping were performed on 110 allergic rhinitis patients and 107 healthy controls. TAP1 polymorphic residues at codons 333 and 637, and TAP2 polymorphic residues at codons 379, 565, 651, and 665 were analyzed by the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Analysis of TAP1 gene polymorphism demonstrated decreased frequencies of Ile/Val genotype at codon 333, Asp/Gly genotype at codon 637, and haplotype A and B in allergic rhinitis patients when compared to controls (p<0.05). However, there was no significant difference in the genotype, phenotype, or allele frequencies at four TAP2 codons between controls and allergic rhinitis patients. In conclusion, TAP1 gene polymorphism may be an important factor contributing to the genetic susceptibility in the development of allergic rhinitis in the Korean population.
ATP-Binding Cassette Transporters/*genetics ; Adolescent ; Adult ; Aged ; Child ; Codon ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypersensitivity/*genetics ; Hypersensitivity, Immediate/*genetics ; Korea ; Male ; Middle Aged ; *Polymorphism, Genetic ; Rhinitis/*genetics

The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3) is selectively expressed on the surface of differentiated Th1 cells. Tim-3 might have an important role in the induction of autoimmune diseases by regulating macrophage activation and interacts with Tim-3 ligand to regulate Th1 responses. To determine the variation sites in the coding and promoter region of human Tim-3 gene, we performed variation scanning by direct sequencing using the genomic DNA isolated from the patients with asthma or allergic rhinitis and healthy controls without asthma and allergic rhinitis. We identified four single nucleotide polymorphisms (SNPs) including one novel SNPs (-1541C>T) and two variation sites (-1292_-1289delTAAA and -1282_-1278dupTAAAA) in the coding and promoter region of human Tim-3 gene in both the patients and healthy groups.
Asthma/genetics ; Exons/genetics ; Gene Frequency/genetics ; Humans ; Membrane Proteins/*genetics/metabolism ; Polymorphism, Single Nucleotide/*genetics ; Promoter Regions (Genetics)/genetics ; Research Support, Non-U.S. Gov't ; Respiratory Hypersensitivity/*genetics ; Rhinitis, Allergic, Perennial/genetics ; Th1 Cells/metabolism

Breastfeeding is well-known for its benefits of preventing communicable and non-communicable diseases. Human breastmilk consists not only of nutrients, but also of bioactive substances. What's more, the epigenetic effects of human breast milk may also play an important role. Alterations in the epigenetic regulation of genes may lead to profound changes in phenotype. Clarifying the role of human breast milk on genetic expression can potentially benefit the infant's health and his later life. This review article makes a brief summary of the epigenetic mechanism of breast milk, and its epigenetic effects on neonatal necrotizing enterocolitis, infectious diseases, metabolism syndrome, cognitive function and anaphylactic diseases.
Breast Feeding ; Cognition ; Communicable Diseases ; etiology ; genetics ; Enterocolitis, Necrotizing ; etiology ; genetics ; Epigenesis, Genetic ; Female ; Humans ; Hypersensitivity ; etiology ; genetics ; Infant, Newborn ; Metabolic Syndrome ; etiology ; genetics

Individual response to drugs, toxicants, environmental chemicals and allergens varies with genotype. Some respond well to these substances without significant consequences, while others may respond strongly with severe consequences and even death. Toxicogenetics and toxicogenomics as well as pharmacogenetics explain the genetic basis for the variations of individual response to toxicants by sequencing the human genome and large-scale identification of genome polymorphism. The new disciplines will provide a new route for forensic specialists to determine the cause of death.
Cytochrome P-450 Enzyme System/genetics* ; Drug Hypersensitivity/genetics* ; Forensic Medicine ; Genetic Predisposition to Disease/genetics* ; Genome, Human ; Humans ; Pharmacogenetics/trends* ; Pharmacokinetics ; Polymorphism, Single Nucleotide ; Toxicogenetics/trends*

Adult ; Aged ; Asthma ; complications ; Chronic Disease ; Cough ; etiology ; genetics ; Female ; Humans ; Hypersensitivity ; complications ; Male ; Middle Aged ; Respiratory Sounds ; Surveys and Questionnaires