Genome-wide association (GWA) studies are the method of choice for discovering loci associated with common diseases. More than a thousand GWA studies have reported successful identification of statistically significant association signals in human genomes for a variety of complex diseases. In this review, I discuss some of the issues related to the future of GWA studies and their biomedical applications.
Genome, Human ; Genome-Wide Association Study ; Humans

Most psychiatric disorders are some kinds of complex genetic traits. Identifying the causal genes of psychiatric disorders has been challenging. Through recent revolutionary advances, such as the HapMap Project and the development of high-throughput genotyping chips, the genome-wide association study (GWAS) has recently become possible and is now in the spotlight in psychiatric genetics. In this article, we reviewed the concepts, rationale, designs and general steps of GWAS, and also introduced a few previous GWAS of several psychiatric disorders.
Genome-Wide Association Study ; HapMap Project

Most psychiatric disorders are some kinds of complex genetic traits. Identifying the causal genes of psychiatric disorders has been challenging. Through recent revolutionary advances, such as the HapMap Project and the development of high-throughput genotyping chips, the genome-wide association study (GWAS) has recently become possible and is now in the spotlight in psychiatric genetics. In this article, we reviewed the concepts, rationale, designs and general steps of GWAS, and also introduced a few previous GWAS of several psychiatric disorders.
Genome-Wide Association Study ; HapMap Project

Genome-Wide Association Study ; standards ; Humans

In the past few years, the bone field has witnessed great advances in genome-wide association studies (GWASs) of osteoporosis, with a number of promising genes identified. In particular, meta-analysis of GWASs, aimed at increasing the power of studies by combining the results from different study populations, have led to the identification of novel associations that would not otherwise have been identified in individual GWASs. Recently, the first whole genome sequencing study for osteoporosis and fractures was published, reporting a novel rare nonsense mutation. This review summarizes the important and representative findings published by December 2013. Comments are made on the notable findings and representative studies for their potential influence and implications on our present understanding of the genetics of osteoporosis. Potential limitations of GWASs and their meta-analyses are evaluated, with an emphasis on understanding the reasons for inconsistent results between different studies and clarification of misinterpretation of GWAS meta-analysis results. Implications and challenges of GWAS are also discussed, including the need for multi- and inter-disciplinary studies.
Codon, Nonsense ; Genetics ; Genome ; Genome-Wide Association Study* ; Osteoporosis*

Genome, Human ; Genome-Wide Association Study ; Humans ; Obesity ; genetics

There were three new blood group systems including the KANNO blood group system, the Sid blood group system and the CTL2 blood group system (provisional status), have been registered by the International Society of Blood Transfusion (ISBT) registered Science August 2019. The main reason for this update is that the significant SNPs of the KANNO blood group system (rs1800014) and the Sid blood group system (rs7224888) have been found through genome-wide association studies and whole exome sequencing. The new genetic evidences are consistent with the current immunological findings. In addition, although CTL2 antigen has been found on erythrocyte ghost (erythrocyte membrane) since 2017, CTL2 blood group system is still in provisional status due to lack of serological and genetic evidence. In this review, the experimental research advances of these three ISBT blood group systems and discuss the clinical value of the relevant researches was summarized briefly.
Blood Group Antigens ; Blood Transfusion ; Genome-Wide Association Study ; Humans

The Wellcome Trust Case Control Consortium (WTCCC) study was a large genome-wide association study that aimed to identify common variants associated with seven diseases. That study combined two control datasets (58C and UK Blood Services) as shared controls. Prior to using the combined controls, the WTCCC performed analyses to show that the genomic content of the control datasets was not significantly different. Recently, the analysis of human leukocyte antigen (HLA) genes has become prevalent due to the development of HLA imputation technology. In this project, we extended the between-control homogeneity analysis of the WTCCC to HLA. We imputed HLA information in the WTCCC control dataset and showed that the HLA content was not significantly different between the two control datasets, suggesting that the combined controls can be used as controls for HLA fine-mapping analysis based on HLA imputation.
Case-Control Studies ; Dataset ; Genome-Wide Association Study ; Humans ; Leukocytes

To analyze the research hotspots and trends of biomarkers for diseases based on genomics and thus provide basis for the future studies in this field. Based on the Web of Science,we analyzed the genomics-based biomarkers for diseases in literature published between 2006 and 2018 in terms of country and institutions,knowledge base,research hotspots,and trends by using bibliometric methods and CiteSpace software. A total of 998 articles were retrieved.The total number of articles has shown an upward trend and reached a peak of 112 in 2017 and 2018.Most articles(=477)were from the United States,follwed by China(=93).,,,,and are core journals in this field.Keywords co-occurrence analysis identified four research hotspots:disease research,research method and technology,research level,and application purpose. Research in functional genomics,cancer immunotherapy,genome-wide association and multi-omics techniques,personalized medicine,and precision medicine are research hotspots and frontiers in this field.
Bibliometrics ; Biomarkers ; China ; Genome-Wide Association Study ; Genomics ; United States

Recently, there have been many studies in medicine related to genetic analysis. Many genetic studies have been performed to find genes associated with complex diseases. To find out how genes are related to disease, we need to understand not only the simple relationship of genotypes but also the way they are related to phenotype. Multi-block data, which is a summation form of variable sets, is used for enhancing the analysis of the relationships of different blocks. By identifying relationships through a multi-block data form, we can understand the association between the blocks in comprehending the correlation between them. Several statistical analysis methods have been developed to understand the relationship between multi-block data. In this paper, we will use generalized canonical correlation methodology to analyze multi-block data from the Korean Association Resource project, which has a combination of single nucleotide polymorphism blocks, phenotype blocks, and disease blocks.
Genome-Wide Association Study ; Genotype ; Phenotype ; Polymorphism, Single Nucleotide