March 1, 2024

Do genetics influence osteoporosis?

Osteoporosis is a chronic bone disease in which a person experiences a decrease in bone density. Anyone can develop osteoporosis, although certain factors, such as genetics, can increase a person’s risk.

Osteoporosis is a condition that can cause weak bones that are more prone to fractures. It occurs when the body reabsorbs more bone tissue and produces less to replace it. This decreases bone density and makes them more fragile. Many different factors – including genetics – can contribute to the development of osteoporosis.

Read on to learn more about the influence of genetics on osteoporosis, as well as other potential causes and risk factors.

Evidence shows that genetics plays a role in the development of osteoporosis. For example, if a person has a family history of the disease, they are more probable to develop it themselves.

Furthermore, genome-wide association studies highlight that the presence of certain genes may indicate a person’s risk of developing osteoporosis. As such, a 2018 study notes that genetic screening can be a useful tool for predicting a person’s future risk of osteoporosis and bone fractures.

Researchers have identified several genes that contribute to bone density and strength, which are key factors in the development of osteoporosis.

One of these variations is in the gene that codes for vitamin D receptor. This gene plays a role in regulating calcium absorption and bone mineralization. Changes in this gene may be related to lower bone mineral density and an increased risk of fractures.

Another gene – the COL1A1 gene – helps produce type I collagen, an important component of bone. A common variation in this gene may increase the risk of osteoporosis. This is likely due to the change that affects the body’s ability to produce type I collagen.

However, it is important to note that having these genetic variations does not mean that a person will necessarily develop osteoporosis. It is a complex condition and other factors such as diet and exercise also play a significant role in determining an individual’s overall bone health.

Osteoporosis is a multifactorial condition. This means there is a combination of causes and risk factors, some of which people cannot change. Some examples include:

Age

The risk of osteoporosis increases with age, especially in postmenopausal people. As individuals age, bone mass naturally decreases, making them more susceptible to bone loss and fractures.

Sex

Biological women are at greater risk of developing osteoporosis than biological men. This is because women generally have lower peak bone mass than men and also experience a significant decrease in estrogen levels during menopause, which accelerates bone loss.

Hormonal imbalances

Low estrogen levels in biological women and low testosterone levels in biological men can contribute to bone loss and increase the risk of osteoporosis.

Low intake of calcium and vitamin D

Inadequate intake of calcium and vitamin D, essential for bone health, can lead to decreased bone density and increase the risk of osteoporosis.

Sedentary lifestyle

Lack of regular weight-bearing exercise, such as walking, running, or weight lifting, can contribute to weaker bones and a higher risk of osteoporosis. Physical activity helps stimulate bone formation and strengthen existing bone tissue.

Smoke

Smoking can increase your risk of osteoporosis. It reduces estrogen levels in biological women, affects calcium absorption and impairs bone formation.

Certain medical conditions and medications

Conditions such as rheumatoid arthritis, celiac disease, inflammatory bowel disease, and certain hormonal disorders can increase your risk of osteoporosis. Additionally, long-term use of certain medications, such as corticosteroids, can weaken bones and contribute to bone loss.

Osteoporosis typically progresses without noticeable symptoms until a fracture occurs. Symptoms of a spinal fracture can include:

  • severe back pain
  • loss of height
  • spinal malformations, such as slouched posture

Living with osteoporosis means that affected bones can become brittle, leading to fractures that occur spontaneously or due to small falls or typical stresses such as coughing.

According to the International Osteoporosis Foundation, diagnosing osteoporosis typically involves a bone mineral density (BMD) test. This test uses a dual-energy x-ray absorptiometry (DEXA) machine. A healthcare professional compares the results to those of a typical average 30-year-old adult.

To determine whether bone density is in the normal range, BMD uses a T-score against standard deviation. This is a term that calculates how much a result varies from the average. A T-score of -2.5 or lower confirms osteoporosis, while a T-score between -1 and -2.5 indicates osteopenia, a precursor to osteoporosis.

Learn more about osteoporosis testing.

The main goal of treating osteoporosis is to prevent fractures, relieve pain, and improve overall bone health. Treatment will vary as the healthcare professional will adapt plans depending on individual circumstances.

In combination with lifestyle recommendations such as gentle weight-bearing exercise, a balanced diet, and increasing your calcium and vitamin D intake, your doctor may also recommend medications such as:

  • Bisphosphonates: This is a group of medications that slow bone loss.
  • Estrogen-related therapy: This mimics the hormone estrogen to help improve bone mass density, particularly in menopausal women.
  • Parathyroid hormone analogues: This works by giving a person a synthetic form of parathyroid hormone. Helps regulate the distribution of calcium in the body.

There are several steps a person can take to prevent osteoporosis. Those include:

  • Consume foods that support bone health: A person should aim to get enough calcium, vitamin D, and protein every day. In some cases, a person may want to consider supplements.
  • Increase physical activity: Weight-bearing activities such as walking, dancing, and strength training can help build and strengthen bones.
  • Considering quitting smoking: Because smoking can increase the risk of weakening bones, a person may consider quitting smoking to decrease the risk of developing the disease.
  • Limit or reduce alcohol consumption: Similar to smoking, alcohol can weaken bones. As such, it is advisable to avoid alcohol or drink in moderation.

Genetics may play a role in the development of osteoporosis. Typically, this will involve variations in genes that help with bone health. As such, problems with these genes can affect bone density and increase the risk of fractures.

However, osteoporosis is multifactorial. This means that many other risk factors can also contribute to the likelihood of developing the disease.

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