In a recent study published in the journal Nature , a team of researchers investigated the intergenic haplotype found on the long arm of chromosome 21. This haplotype has independent associations with inflammatory diseases such as Takayasu’s arteritis, ankylosing spondylitis, inflammatory bowel disease, and primary sclerosing cholangitis. The researchers conducted a functional genomic analysis to better understand the mechanisms of inflammatory diseases.
Study: A disease-associated gene desert directs macrophage inflammation through ETS2 . Image Credit: Kateryna Kon / Shutterstock Inflammatory and autoimmune disorders affect about 5% of the global population and are highly heterogeneous, affecting various parts of the body. There is a dearth of effective therapies to address inflammatory diseases such as inflammatory bowel disease, lupus, and psoriasis, with less than 10% of the drugs undergoing clinical testing being approved for use.
An inadequate understanding of the mechanisms of inflammatory diseases is the primary cause of the low efficacy of inflammatory disease therapies. However, advancements in genetics and the mapping of numerous loci present an avenue to examine the loci directly linked to disease pathogenesis. Identifying the pathways implicated by these genetic loci presents opportunities to develop drugs specifically targeting these pathways.
In the present study, the researchers investigated shared disease mechanisms and aimed to identify genetic variants th.
