基因分型
遗传力缺失问题
遗传力
遗传关联
全基因组关联研究
炎症性肠病
遗传学
单核苷酸多态性
疾病
遗传倾向
遗传变异
医学
遗传建筑学
生物
生物信息学
基因
基因型
数量性状位点
病理
作者
Byong Duk Ye,Dermot P. McGovern
标识
DOI:10.1080/1744666x.2016.1184972
摘要
Epidemiological and clinical studies have suggested that the pathogenesis of inflammatory bowel disease (IBD) is strongly influenced by genetic predisposition. Beyond the limitations of linkage analysis, multiple genome-wide association studies, their meta-analyses, and targeted genotyping array techniques have broadened our understanding of the genetic architecture of IBD. Currently, over 200 single nucleotide polymorphisms are known to be associated with susceptibility to IBD and through functional analysis of genes and loci, a substantial proportion of pathophysiologic mechanisms have been revealed. However, because only a modest fraction of predicted heritability can be explained by known genes/loci, additional strategies are needed including the identification of rare variants with large effect sizes to help explain the missing heritability. Considerable progress is also being made on applying outcomes of genetic research in diagnostics, classification, prognostics, and the development of new therapeutics of IBD.
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