The IL-6 174 G>C polymorphism genetic test analyzes a specific variation in the IL6 gene, which encodes interleukin-6 (IL-6), a multifunctional cytokine involved in inflammation, immune response, and metabolic regulation. This test detects a guanine (G) to cytosine (C) substitution at position -174 in the promoter region of IL6, a genetic variation that influences gene transcription and IL-6 production levels. As IL-6 plays a central role in pro-inflammatory and anti-inflammatory pathways, this polymorphism has been associated with differences in susceptibility to inflammatory diseases, autoimmune disorders, cardiovascular conditions, and metabolic syndromes.
IL-6 is a key regulator of immune function and inflammation, mediating acute-phase responses, leukocyte activation, and cytokine signaling. The -174 G>C polymorphism affects the transcriptional activity of IL6, leading to cytokine expression variations under basal and stimulated conditions. Studies suggest that the G allele is associated with higher IL-6 production, particularly in response to inflammatory stimuli. In contrast, the C allele is linked to lower cytokine expression and a more controlled inflammatory response. The differential regulation of IL-6 influences disease progression in chronic inflammation, tissue damage, and immune system dysregulation.
The IL6 174 G>C polymorphism has been extensively studied in relation to cardiovascular disease, given the role of IL-6 in vascular inflammation, atherosclerosis, and thrombosis. Increased IL-6 levels associated with the G allele contribute to endothelial dysfunction, plaque formation, and arterial stiffness, elevating the risk of hypertension, coronary artery disease, and myocardial infarction. Conversely, individuals carrying the C allele may exhibit a reduced inflammatory burden, which has been linked to a lower risk of cardiovascular complications. The impact of this polymorphism on lipid metabolism and C-reactive protein (CRP) levels further underscores its significance in cardiovascular health.
In autoimmune and inflammatory diseases, IL-6 dysregulation is critical to disease severity and progression. The -174 G>C polymorphism has been implicated in rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel diseases, where excessive IL-6 signaling promotes joint inflammation, tissue damage, and immune cell activation. The G allele has been associated with increased susceptibility to these conditions due to its role in amplifying inflammatory cascades. In contrast, the C allele may confer a protective effect by limiting IL-6-mediated immune responses.
Metabolic disorders, including obesity, type 2 diabetes, and metabolic syndrome, are also influenced by IL-6 genetic variations. IL-6 plays a role in insulin sensitivity, adipose tissue function, and energy metabolism, with elevated levels contributing to insulin resistance and chronic low-grade inflammation. The G allele has been linked to higher circulating IL-6 levels, increased body mass index (BMI), and an elevated risk of metabolic disturbances. In contrast, the C allele may be associated with a more favorable metabolic profile.
Neurodegenerative diseases and cognitive function have been explored in the context of IL-6 signaling, as chronic inflammation contributes to neuronal damage and cognitive decline. The -174 G>C polymorphism has been studied in relation to Alzheimer’s disease, Parkinson’s disease, and age-related cognitive impairment, with the G allele potentially playing a role in neuroinflammatory processes that accelerate disease progression.
Genetic testing for the IL6 174 G>C polymorphism provides insight into individual differences in inflammatory responses and their implications for disease risk. Identifying this variant allows for evaluating genetic predisposition to chronic inflammatory conditions, cardiovascular disease, autoimmune disorders, and metabolic dysfunction. Understanding the impact of IL-6 regulation on health and disease progression enables a more targeted approach to managing inflammation and its associated risks.
The IL-6 174 G>C polymorphism genetic test is also included in:
