In 2004, an association of genetic variation in the discs large homolog 5 （DLG5＇） gene with inflammatory bowel disease （IBD） was described in two large European study samples. The initial report of DLG5 as a nove...In 2004, an association of genetic variation in the discs large homolog 5 （DLG5＇） gene with inflammatory bowel disease （IBD） was described in two large European study samples. The initial report of DLG5 as a novel IBD susceptibility gene sparked a multitude of studies investigating its effect on CD and IBD, respectively, leading to controversial findings and ongoing discussions concerning the validity of the initial association finding and its role in the aetiology of Crohn disease. This review aims to summarize the current state of knowledge and to place the reported findings in the context of current concepts of complex diseases. This includes aspects of statistical power, phenotype differences and genetic heterogeneity between different populations as well as gene-gene and gene-environment interactions.展开更多
With the rising interest in the regulatory functions of long non-coding RNAs （IncRNAs） in complex human diseases such as cardiovascular diseases, there is an increasing need in public databases offering comprehensiv...With the rising interest in the regulatory functions of long non-coding RNAs （IncRNAs） in complex human diseases such as cardiovascular diseases, there is an increasing need in public databases offering comprehensive and integrative data for all aspects of these versatile molecules. Recently, a variety of public data repositories that specialized in lncRNAs have been developed, which make use of huge high-throughput data particularly from next-generation sequencing （NGS） approaches. Here, we provide an overview of current IncRNA databases covering basic and functional annotation, IncRNA expression and regulation, interactions with other biomolecules, and genomic variants influencing the structure and function of lncRNAs. The prominent IncRNA antisense noncoding RNA in the INK4 locus （ANRIL）, which has been unequivocally associated with coronary artery disease through genome-wide association studies （GWAS）, serves as an example to demonstrate the features of each individual database.展开更多
文摘In 2004, an association of genetic variation in the discs large homolog 5 （DLG5＇） gene with inflammatory bowel disease （IBD） was described in two large European study samples. The initial report of DLG5 as a novel IBD susceptibility gene sparked a multitude of studies investigating its effect on CD and IBD, respectively, leading to controversial findings and ongoing discussions concerning the validity of the initial association finding and its role in the aetiology of Crohn disease. This review aims to summarize the current state of knowledge and to place the reported findings in the context of current concepts of complex diseases. This includes aspects of statistical power, phenotype differences and genetic heterogeneity between different populations as well as gene-gene and gene-environment interactions.
文摘With the rising interest in the regulatory functions of long non-coding RNAs （IncRNAs） in complex human diseases such as cardiovascular diseases, there is an increasing need in public databases offering comprehensive and integrative data for all aspects of these versatile molecules. Recently, a variety of public data repositories that specialized in lncRNAs have been developed, which make use of huge high-throughput data particularly from next-generation sequencing （NGS） approaches. Here, we provide an overview of current IncRNA databases covering basic and functional annotation, IncRNA expression and regulation, interactions with other biomolecules, and genomic variants influencing the structure and function of lncRNAs. The prominent IncRNA antisense noncoding RNA in the INK4 locus （ANRIL）, which has been unequivocally associated with coronary artery disease through genome-wide association studies （GWAS）, serves as an example to demonstrate the features of each individual database.
