Approved Research

Dissecting functional implications of single nucleotide polymorphisms (SNPs) in non-coding elements

Lay summary

The majority of the human genome does not translate to protein, defined as "junk" DNA. However, recent studies show that those "junk" DNA is associated with several diseases. More recently, genome-wide studies have demonstrated that most trait-associated loci lie in the noncoding regions, but their functional implications require further investigations. It remains a challenge to interpret the functional implications of noncoding variants on the observable characteristics or traits of human beings (termed phenotype) in a large-scale human genetic analysis like UK Biobank. The human skin is the largest organ of the body and it appears to have diverse phenotypes under different genetic backgrounds and environmental factors. To understand the noncoding single nucleotide polymorphisms (SNPs) effects on skin phenotypes, we intend to establish a repository of the co-occurrence among the skin disorders and other organs/environment factors (skin-inter-phenotypic pairs); prioritize the noncoding SNPs associated with skin-inter-phenotypic pairs, and develop a computational method to evaluate the effect of noncoding SNPs on the skin-inter-phenotypic pair of interested. Our research meets the purpose-`improve the prevention, diagnosis, and treatment of illness and promoting health throughout society` of UK Biobank. We plan to leverage our expertise in research on noncoding genomic elements to investigate the functional role of noncoding variants on human phenotypes. Thus, our project benefits further discoveries of new disease-causing variants, provides a platform for studying noncoding variants' mechanisms and eventually helps precision medicine in public health.