An international research team has developed a high-throughput biological assay technique which enabled them to conduct a systematic analysis on the impact of nearly 100,000 genetic variants on the binding of transcription factors to DNA. Their findings provided valuable data for finding key biomarkers of type 2 diabetes for diagnostics and treatments.

The study was co-led by Dr Yan Jian, Assistant Professor in the Department of Biomedical Sciences at CityU, Professor Bing Ren from the University of California San Diego and Professor Jussi Taipale from the University of Cambridge. Their findings were published in the scientific journal Nature.

«Based on our findings, we believe that our high-throughput experimental method can be applied in the study of different genetic diseases, including colorectal cancer and prostate cancer. It can help dissect the mechanism of the genetic inheritance of the disease and find the biomarkers for clinical diagnosis,» said Dr Yan.

Unveiling the roles of noncoding variants in diseases

Genome-wide association studies (GWAS), which investigate the entire genome, has been the most important strategy in finding the genes associated with complex genetic diseases. Researchers have found hundreds of thousands of genetic variants in association with human diseases and traits. But studies on the functions of these variants are still limited.

«Understanding the molecular functions of the noncoding variants will help us find out why people carrying these mutations are more susceptible to genetic diseases. This will help us develop methods or strategies to prevent, to detect or to cure the diseases early,» explained Dr Yan.

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