With advancement in genetic studies, familial phaeochromocytoma (PCC) and paraganglioma (PGL) are increasingly being recognized. Characteristically, correlations exist between genotypes and clinical and biochemical phenotypes. We report a phaeochromocytoma in a young patient with intriguing family histories, raising the possibility of his being a familial case.
Genetic Association Studies

No abstract available.
Adrenal Hyperplasia, Congenital* ; Genetic Association Studies*

The rapid increase in genetic dataset volume has demanded extensive adoption of biological knowledge to reduce the computational complexity, and the biological pathway is one well-known source of such knowledge. In this regard, we have introduced a novel statistical method that enables the pathway-based association study of large-scale genetic dataset—namely, PHARAOH. However, researcher-level application of the PHARAOH method has been limited by a lack of generally used file formats and the absence of various quality control options that are essential to practical analysis. In order to overcome these limitations, we introduce our integration of the PHARAOH method into our recently developed all-in-one workbench. The proposed new PHARAOH program not only supports various de facto standard genetic data formats but also provides many quality control measures and filters based on those measures. We expect that our updated PHARAOH provides advanced accessibility of the pathway-level analysis of large-scale genetic datasets to researchers.
Dataset ; Genetic Association Studies ; Methods ; Quality Control

Next-generation sequencing has revolutionized family-based association tests for rare variants. As the lower power of genome wide association study for detecting casual rare variants, methods aggregating effects of multiple variants have been proposed, such as burden tests and variance component tests. This paper summarizes the methods of rare variants association test that can be applied for family data, introduces their principles, characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods.
Computer Simulation ; Family Relations ; Genetic Association Studies ; Genetic Variation ; Genome-Wide Association Study/methods* ; Humans

Case-control studies are widely used for disease gene mapping using individual genotyping data. However, analyses of large samples are often impractical due to the expense of individual genotyping. The use of DNA pooling can significantly reduce the number of genotyping reactions required; hence reducing the cost of large-scale case-control association studies. Here, we discuss the design and analysis of DNA pooling genetic association studies.
Case-Control Studies* ; Chromosome Mapping ; DNA* ; Genetic Association Studies

In planning a genetic association study, it is necessary to determine the number of samples to be collected for the study in order to achieve sufficient power to detect the hypothesized effect. The case-control design is increasingly used for genetic association studies due to the simplicity of its design. We review the methods for the sample size and power calculations in case-control genetic association studies between a marker locus and a disease phenotype.
Case-Control Studies* ; Genetic Association Studies* ; Phenotype ; Sample Size*

OBJECTIVES: Previous genome-wide association studies have indicated the association between ankyrin 3 (ANK3) and the vulnerability of schizophrenia. We investigated the association between single nucleotide polymorphisms (SNPs) covering the whole ANK3 locus and schizophrenia in the Korean population. METHODS: The study subjects were 582 patients with schizophrenia and 502 healthy controls. Thirty-eight tag SNPs on ANK3 and five additional SNPs showing significant association with schizophrenia in previous studies were genotyped. RESULTS: Three (rs10994181, rs16914791, rs1938526) of 43 SNPs showed a nominally significant association (p < 0.05) with at least one genotype model. But none of these associations remained significant after adjusting for multiple testing errors with Bonferroni's correction. CONCLUSIONS: We could not identify a significant association between ANK3 and schizophrenia in the Korean population. However, three SNPs showing an association signal with nominal significance need to be investigated in future studies with higher statistical power and more specific phenotype crossing the current diagnostic categories.
Ankyrins ; Genetic Association Studies ; Genome-Wide Association Study ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Schizophrenia*

OBJECTIVES: The aim of the current study is to test for the association of DRD4 exon III VNTR polymorphism with attention-deficit hyperactivity disorder(ADHD) in Korean children population. METHODS: 113 Korean children with ADHD, 102 parents, and 133 control subjects participated with the current study. The distribution of genotypes and alleles of DRD4 exon III VNTR in children with ADHD was compared with that in control subjects. In addition, 69 children with ADHD and their parents were analyzed using the transmission disequilibrium test(TDT). RESULTS: We could not find any significant differences in the distribution of genotypes and alleles at DRD4 exon III VNTR polymorphism between children with ADHD and control subjects. In addition, there was no preferential transmission of long allele of DRD4 exon III VNTR polymorphism. CONCLUSION: These results suggest that DRD4 is not associated with ADHD in Korean children population.
Alleles ; Child* ; Exons* ; Genetic Association Studies ; Genotype ; Humans ; Parents

Nasal polyposis (NP) is a common chronic inflammatory disease of the rhinosinus mucosa and a complex disease with strong genetic and environmental components. During the past 10 to 20 yr, many studies have been performed to determine differential gene expression profiles between NP and normal nasal tissues, in order to identify susceptible genes that are associated with NP-related traits. Despite achievement in the identification of candidate genes and their associated pathogenic pathways, the large challenges remain as the genetic and molecular alterations required for its development and progression are still unclear. Therefore, the development of novel, powerful tools for gene discovery, and a closer integration of genetics and medical biology would provide valuable insight into the pathogenesis of NP.
Achievement ; Biology ; Gene Expression ; Genetic Association Studies ; Mucous Membrane ; Transcriptome

Pharmacogenetic studies are designed to investigate the associations between genetic variation and treatment response for a particular drug in terms of both efficacy and adverse events and have high sample size requirements. To improve the quality of pharmacogenetic studies and facilitate the Meta-analyses to investigate statistically significant associations, Strengthening the Reporting of Pharmacogenetic Studies (STROPS) guideline was developed in 2020 based on the Strengthening the Reporting of Genetic Association Studies (STREGA) statement. The objective of this article is to present a brief introduction to the STROPS guideline and an interpretation of the key points in some items with examples for the better understanding and application.
Genetic Association Studies ; Humans ; Pharmacogenomic Testing ; Research Report