Over the past three decades, a large number of genetic studies have been aimed at finding genetic variants associated with the risk of asthma, applying various genetic and genomic approaches including linkage analysis, candidate gene polymorphism studies, and genome-wide association studies (GWAS). However, contrary to general expectation, even single nucleotide polymorphisms (SNPs) discovered by GWAS failed to fully explain the heritability of asthma. Thus, application of rare allele polymorphisms in well defined phenotypes and clarification of environmental factors have been suggested to overcome the problem of 'missing' heritability. Such factors include allergens, cigarette smoke, air pollutants, and infectious agents during pre- and post-natal periods. The first and simplest interaction between a gene and the environment is a candidate interaction of both a well known gene and environmental factor in a direct physical or chemical interaction such as between CD14 and endotoxin or between HLA and allergens. Several GWAS have found environmental interactions with occupational asthma, aspirin exacerbated respiratory disease, tobacco smoke-related airway dysfunction, and farm-related atopic diseases. As one of the mechanisms behind gene-environment interaction is epigenetics, a few studies on DNA CpG methylation have been reported on subphenotypes of asthma, pitching the exciting idea that it may be possible to intervene at the junction between the genome and the environment. Epigenetic studies are starting to include data from clinical samples, which will make them another powerful tool for research on gene-environment interactions in asthma.
Alleles ; Allergens ; Asthma/*genetics ; Endotoxins ; Environment ; *Epigenesis, Genetic ; *Gene-Environment Interaction ; Genome-Wide Association Study ; Humans ; Phenotype ; *Polymorphism, Genetic ; Polymorphism, Single Nucleotide

OBJECTIVE: Recent studies have reported associations of retinoid-related orphan receptor alpha (RORA) gene single nucleotide polymorphisms (SNPs) with depression and anxiety disorders. Based on these, we attempt to test whether RORA polymorphism is associated with anxiety sensitivity (AS), the intermediate phenotype of depression and anxiety disorders. Considering gene-environment interactions and sex differences in AS, childhood maltreatment (CM) and sex were considered as confounders. METHODS: Two-hundred and five healthy young Korean adults (female: 98, male: 107; age, 23.0±3.2 years) completed genotyping for the RORA SNP rs11071547, as well as measures for AS and CM. Generalized linear models were used to examine the main and interaction effects of RORA genotype, CM, and sex in determining AS. RESULTS: The main effect of RORA polymorphisms was not found (p=0.760) whereas the main effect of CM and interaction effects among sex, genotype, and maltreatment were significant on AS. In separate analyses by sex, the interaction effect between RORA genotype and maltreatment was significant only in males (p < 0.001). In females, the main effects of genotype and CM were significant (both were p < 0.001), in which both a history of CM and C genotype tended to be associated with higher AS. CONCLUSION: The association between RORA polymorphism and AS might differ by sex. The interaction between RORA polymorphism and CM was significant only in males whereas RORA genotype and CM independently associated with AS in females. Further studies are encouraged to confirm the relationship between RORA polymorphism and AS.
Adult ; Anxiety Disorders ; Anxiety* ; Child ; Child, Orphaned ; Depression ; Female ; Gene-Environment Interaction ; Genotype ; Humans ; Linear Models ; Male ; Phenotype ; Polymorphism, Single Nucleotide ; Sex Characteristics ; Young Adult*

No abstract available.
Phenotype*

With the rapid development of human genome project, increased genetic and population-based association studies are focused on the identification of the underlying susceptibility genes and contributions from gene-environment interaction to common complex diseases. Whole-genome association study with high-density single nucleotide polymorphisms is one of the most important milestones in that process. However, problems still exist in study design, data processing, and results interpretation. Large-scale cohort study or population-based case-control design with sufficient statistical power, new approaches to assess the gene-gene and gene-environment interactions, as guarantee of the consistency and replicability of these researches are crucial in the exploration of the causes of these common complex diseases.
Genetic Markers ; Genetic Predisposition to Disease ; Genetics, Population ; Humans ; Linkage Disequilibrium ; Molecular Epidemiology ; Phenotype

There is growing interest in the genetic analysis of schizophrenia using endophenotypes rather than clinical diagnosis or symptom dimensions. Endophenotypes could be alternative phenotypes for the clinical phenotypes. With their intermedicate and quantitative characteristics, endophenotypes could be functionally important links in the pathways between the genetic variation and clinical expression of the disorder. In this regard, the neurophysiological and neurocognitive endophenotypes used in the genetic analysis of schizophrenia have been reviewed.
Diagnosis ; Endophenotypes* ; Genetic Variation ; Genetics* ; Phenotype ; Schizophrenia*

With the development of new technologies, such as whole genome sequencing and big data, many countries have constructed large cohorts as strategic resources for precision medicine study. Related studies have significantly promoted research progress in many fields, such as medicine and biology, creating the genetic testing industry. In the forensic field, characterization technologies for features, such as biogeographic ancestry, genetic genealogy and physical appearance have emerged and developed rapidly. Compared with traditional forensic DNA technology, the new technology can search for characteristics and provide clues, quickly becoming an important means to solve difficult cases such as cold cases and accumulated cases. This paper briefly reviews the current status of the construction of large cohorts at home and abroad, and the research progress of forensic molecular phenotyping in the context of precision medicine in the context of precision medicine.
DNA/genetics* ; DNA Fingerprinting ; Forensic Genetics ; Forensic Medicine/trends* ; Genetic Markers ; Genetic Testing ; Humans ; Phenotype ; Precision Medicine

Aniridia is a congenital, often hereditary, usually bilateral absence of iris in whole or in part. And aniridia occurs mainly as an autosomal dominant condition with almost complete penetrance. In the usual phenotype, aniridia is associated with nystagmus, foveal and optic nerve hypoplasia, corneal pannus, cataract, secondary glaucoma and strabismus. The author experienced 4 cases of aniridia in a family for three generations. So the author reports these cases with the review of literathure.
Aniridia* ; Capsule Opacification ; Family Characteristics* ; Glaucoma ; Humans ; Iris ; Optic Nerve ; Penetrance ; Phenotype ; Strabismus

For the past three decades, a large number of genetic studies have been performed to examine genetic variants associated with asthma and its subtypes in hopes of gaining better understanding of the mechanisms underlying disease pathology and to identify genetic biomarkers predictive of disease outcomes. Various methods have been used to achieve these objectives, including linkage analysis, candidate gene polymorphism analysis, and genome-wide association studies (GWAS); however, the degree to which genetic variants contribute to asthma pathogenesis has proven to be much less significant than originally expected. Subsequent application of GWAS to well-defined phenotypes, such as occupational asthma and non-steroidal anti-inflammatory drugexacerbated respiratory diseases, has overcome some of these limitations, although with only partial success. Recently, a combinatorial analysis of single nucleotide polymorphisms (SNPs) identified by GWAS has been used to develop sets of genetic markers able to more accurately stratify asthma subtypes. In this review, we discuss the implications of the identified SNPs in diagnosis of asthma and its subtypes and the progress being made in combinatorial analysis of genetic variants.
Anti-Inflammatory Agents, Non-Steroidal ; Aspirin ; Asthma* ; Asthma, Occupational ; Biomarkers ; Diagnosis* ; Genetic Association Studies ; Genetic Markers ; Genetic Techniques ; Genome-Wide Association Study ; Hope ; Pathology ; Phenotype ; Polymorphism, Single Nucleotide*

No Abstract Available.
Chondrocytes* ; Phenotype*

No abstract available.
Humans ; Phenotype*