What Your Genes Say About Peripheral Artery Disease Risk
Peripheral Artery Disease, or PAD, is a common condition of the lower extremities caused due to diminished blood flow. Often resulting from plaque deposition in the arteries, it affects more than 200 million people worldwide.
While PAD disease may not show symptoms in most cases, it can cause limb-threatening ischemia in the long run and also increase the chances of a heart attack or stroke. Thus, a proactive approach to its prevention can be beneficial.
There are various risk factors that are associated with PAD, such as hypertension, diabetes, and smoking. In addition, it is thought to have a genetic factor. Read on to find out more about the genetic side of peripheral artery disease.
Exploring The Genetic Side Of PAD
PAD is a cardiovascular disease caused by the narrowing of the arteries with plaque buildup. Due to the narrowed arteries, there is a reduction in the supply of oxygen and blood to the limbs, often resulting in pain while walking, numbness, and changed color of the legs.
Moreover, when left untreated, the plaque deposit, or atherosclerosis, can worsen and block the blood flow, leading to a heart attack or stroke. However, while the major cause of PAD is atherosclerosis, recent studies have shown that there may be a genetic side of PAD.
Through genome-wide association studies, scientists have identified 19 genome-wide significant loci associated with PAD. Factor V Leiden, a gene mutation, has been stated to play a role in this PAD disease, as it often leads to blood clots.
A few other genetic mutations that have been linked to peripheral artery disease include:
- CDKN2BAS1
- CHRNA3
- HDAC9
- PTPN11
- SH2B3
Besides, genetic factors playing a role in pathways like inflammation, thrombosis, lipid metabolism, and homocysteine metabolism are thought to trigger premature PAD. Therefore, multiple studies have proven that several genes and genetic variants can increase the risk of PAD.
These genes may either influence the development of PAD directly by acting on the arteries or may contribute by triggering atherosclerotic vascular diseases and cardiovascular diseases.
The genetic variations associated with peripheral arterial disease include:
- Single nucleotide polymorphisms or SNPs
- Epigenetic DNA modifications
- Post-transcriptional regulation by non-coding RNAs
- Mitochondrial DNA variation
Family History
Studies have also shown that a family history of PAD increases the risk of disease among siblings and offspring as compared to the general population. Thus, family history can play a pivotal role in diagnosing patients and even identifying individuals at risk to help prevent the onset of the disease.
Ethnic Disparities
Studies observe that both men and women are equally susceptible to PAD disease. However, when it comes to ethnicity, individuals of African descent have a higher risk of PAD due to more frequent genetic variations in lipid metabolism and hypertension, which are known risk factors of PAD.
Gene-Environment Interactions
It is also worthwhile to note that just because one has a genetic predisposition to the disease does not automatically confirm that one will ever develop the disease. Environmental and lifestyle factors influence the action of genes and may, therefore, play a significant role in the development of the disease.
Whereas any habits like smoking can enhance the effects of genetic risk factors and help in the onset of the disease, if you have a tendency for high cholesterol along with your family history, then maintaining a healthy diet and regular exercise may help prevent you from developing PAD.
Genetics For PAD Detection
Identifying genetic associations with PAD can support early detection, paving the way for timely PAD treatment and effective prevention strategies. While genetic screening for PAD has not yet been developed, comprehensive research and development are being performed.
For example, a few studies suggest a role for associations of inflammatory biomarkers with the development of atherosclerosis. In addition, multiple studies show elevated levels of inflammatory biomarkers in people with PAD.
However, such levels may also be high as a result of risk factors associated with PAD, such as diabetes and smoking. So much needs to be established before developing genetic screening for PAD.
Once a genetic marker for PAD is discovered, at-risk patients will be found more easily to be served by targeted therapies. Moreover, it can discover some proteins that are implicated in the pathophysiology and possibly provide better prevention and treatment options in the future.
Role Of Genetics In PAD
Treatment There have been rigorous studies, such as genome-wide association studies, to identify genetic variants that may influence the risk of PAD and understand how they modify gene expression. In addition, scientists continue to study the interaction of these conventional risk factors with environmental risk factors.
With this detailed study of the genetic side of PAD, experts can develop targeted therapies and treatments that act on the genetic influences, therefore helping slow down disease progression, delay its onset, or prevent it completely.
Preventing Genetically-Caused PAD
People at an increased risk due to a family history of PAD must take anticipatory measures to prevent and control the disease. To take these measures, you must understand your risk factors and act to reduce the development of PAD.
Following are a few tips to help prevent and manage PAD if you are at risk:
- Quit smoking
- The buildup of plaque can be prevented through regular exercise and a healthy diet. You will also manage weight, which will help regulate conditions such as high blood pressure and diabetes, which are considered PAD risk factors.
- Keep track of your physical health and consult your doctor promptly if you experience PAD symptoms such as leg pain, fatigue, or numbness.
- Get regular check-ups to assess your cholesterol and blood sugar levels.
Determining Your Risk Of Peripheral Artery Disease
PAD has multiple links with genes that increase the risk of disease in affected individuals due to a family history of the same, so if any member of your family has PAD, consult a doctor and take preventive measures.
Doctors at Advanced Medical Group will be with you throughout lifestyle adjustments and treatments aimed at postponing the disease’s onset or even preventing it based on your genetic risk. Book an evaluation with us today to take control of this disease.
