P2RY4
The p2ry4 Gene: Unraveling Its Role in Immune Response and Disease
Description
The p2ry4 gene, located on chromosome 12q24, encodes the P2Y4 purinergic receptor. This receptor is a member of the G protein-coupled receptor (GPCR) family and belongs to the P2Y subclass of receptors that bind adenosine diphosphate (ADP).
P2RY4 is expressed on various immune cells, including macrophages, neutrophils, monocytes, and platelets. It plays a crucial role in regulating immune responses by initiating intracellular signaling pathways upon ADP binding.
Associated Diseases
Mutations or dysregulation of the p2ry4 gene have been implicated in a spectrum of immune-related disorders, including:
- Autoimmune diseases: Systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), inflammatory bowel disease (IBD), and asthma
- Cardiovascular diseases: Myocardial infarction, atherosclerosis, and stroke
- Neurological disorders: Alzheimer's disease and multiple sclerosis
In SLE, reduced expression of P2RY4 impairs the removal of apoptotic cells, leading to the accumulation of autoreactive antibodies and inflammation. In RA, genetic variations in p2ry4 are associated with increased disease severity and joint damage.
Did you Know ?
A large-scale genetic study involving over 200,000 individuals found that a common variant in the p2ry4 gene was associated with a 15% increased risk of developing SLE. This highlights the significant contribution of this gene to autoimmune disease susceptibility.
