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Báo cáo y học: "Promise and pitfalls of the Immunochip"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Promise and pitfalls of the Immunochip. | Cortes and Brown Arthritis Research Therapy 2011 13 101 http arthritis-research.eom content 13 1 101 COMMENTARY L__ Promise and pitfalls of the Immunochip Adrian Cortes and Matthew A Brown Abstract Genomewide association studies GWAS have proven a powerful hypothesis-free method to identify common disease-associated variants. Even quite large GWAS however have only at best identified moderate proportions of the genetic variants contributing to disease heritability. To provide cost-effective genotyping of common and rare variants to map the remaining heritability and to fine-map established loci the Immunochip Consortium has developed a 200 000 SNP chip that has been produced in very large numbers for a fraction of the cost of GWAS chips. This chip provides a powerful tool for immunogenetics gene mapping. Genomewide association studies GWAS have made a phenomenal contribution to our understanding of common heritable diseases over the past 4 years. Immunogenetics research in particular has been highly successful in identifying large numbers of genetic loci. These findings have greatly advanced our understanding of the basic causes of autoimmune and inflammatory conditions and have provided a solid foundation for hypothesis-driven research into disease mechanisms. As the boundaries of GWAS have been tested however limitations of the approach have become more apparent. It is clear that a substantial fraction of the heritability of common diseases even in diseases for which quite large GWAS have been performed has not been mapped raising questions as to where the missing heritability lies 1 . Theories regarding the location of the unmapped heritability include residual unidentified common variant associations common disease-common variant model rare variant associations not mapped because they are poorly captured by common tagSNPs common disease-rare variant model copy number variants CNVs epigenetic effects gene-gene interactions and gene-environment .