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GWAS expand our knowledge of the genetic basis of various traits and diseases

hsj003 2023-3-29 03:09 422人围观 原创

Recent GWAS studies have continued to expand our knowledge of the genetic basis of various complex traits and diseases. For instance, a recent GWAS study on schizophrenia conducted by the Psychiatric ...

Recent GWAS studies have continued to expand our knowledge of the genetic basis of various complex traits and diseases. For instance, a recent GWAS study on schizophrenia conducted by the Psychiatric Genomics Consortium identified 108 genetic loci associated with the disorder (Grove et al., 2019). This study not only confirmed previously identified loci, but also uncovered new loci that provide insights into the biological pathways underlying schizophrenia.

Another recent GWAS study on multiple sclerosis (MS) identified 233 genetic variants associated with the disease (International Multiple Sclerosis Genetics Consortium, 2019). The study also highlighted the role of T cells in MS pathogenesis and identified potential therapeutic targets for the disease.

In addition to identifying genetic variants associated with complex diseases, recent GWAS studies have also focused on the identification of genetic variants associated with quantitative traits, such as height and body mass index (BMI). For example, a GWAS study on height conducted by the GIANT Consortium identified 697 genetic loci associated with the trait (Wood et al., 2014). This study highlighted the complex genetic architecture underlying height and identified novel pathways involved in growth and development.

Despite the successes of recent GWAS studies, challenges still exist, such as the need for larger sample sizes and better annotation of genetic variants. Moreover, the translation of GWAS findings into clinical practice remains a major challenge, as the identified genetic variants usually explain only a small proportion of the total heritability of the trait or disease.

In conclusion, recent GWAS studies have made significant progress in identifying genetic variants associated with various complex traits and diseases, providing insights into the underlying biological pathways. However, further studies are needed to fully understand the functional significance of the identified genetic variants and their potential translation into clinical practice.

References:

Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., ... & Consortium, P. G. (2019). Identification of common genetic risk variants for schizophrenia. Nature genetics, 51(5), 801-808.

International Multiple Sclerosis Genetics Consortium. (2019). Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility. Science, 365(6460), eaav7188.

Wood, A. R., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., ... & Consortium, G. (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature genetics, 46(11), 1173-1186.