Osteoporosis and Genetics: Is There a Link?

According to 2021 statistics from the CDC, around 12.6 percent of adults over age 50 have osteoporosis. 43 percent of adults over 50 have low bone mass, which can turn into osteoporosis if untreated.

Osteoporosis is often called a “silent” condition because you may not know you have the disease until you experience a bone fracture.

Early indicators of osteoporosis or low bone mass include:

• a “loss of height” due to vertebrae collapse in the spine
• a slouched or stooped posture
• severe back pain from vertebral fractures
• breaking your wrist, hip, or other bone from what would normally be a minor fall
• fractures that occur from everyday movements, such as sitting or bending over

There’s no cure for osteoporosis once you have it, although treatments help improve bone health and lessen the chance of fractures. Taking preventive measures can prevent osteoporosis from developing. Even if the condition doesn’t run in your family, you could still be at risk as you get older.

If you have a family history of osteoporosis, you’re more at risk of developing it. According to the American Academy of Orthopaedic Surgeons (AAOS), this is especially true if you have a history of bone fractures on your mother’s side of the family.

Genome-wide association studies (GWAS) have also found that the presence of certain genes could indicate an individual’s risk for developing osteoporosis. In GWAS, researchers collect DNA from a wide range of people with a specific health condition. This helps them discover if certain genes are associated with osteoporosis.

This type of research is ongoing, and there aren’t definitive conclusions yet. However, scientists are hopeful we will one day be able to categorize all the genes related to osteoporosis.

Here are some tentative discoveries:

• A key 2003 study of Icelandic patients with osteoporosis identified a region on Chromosome 20 which “contains a gene or genes that appear to be a major risk factor for osteoporosis and osteoporotic fractures.” Researchers suggested BMP2, which plays an important role in bone cartilage formation, was likely one such gene.
• One of the ways scientists are tracing osteoporosis in our genes is by looking at what genes are responsible for our bone mineral density (BMD). Testing BMD is still the gold standard for diagnosing osteoporosis, and BMD is very hereditary. A 2009 research overview explained that anywhere from 25 to 85 percent of our BMD and other skeletal characteristics may be inherited.
• Other genes associated with BMD and osteoporosis include the genes VDR, ESR1 and ESR2, COL1A1, and STAT1.
• A 2018 study of over 420,000 people with osteoporosis, then followed with experiments on mice, suggested the DAAM2 gene was associated with decreased bone strength. However, DAAM2 is a protein coding gene responsible for many processes in the body, and linked to other conditions including kidney disease.

Suspected osteoporosis is most often evaluated using an imaging technology called Dual Energy X-ray Absorptiometry (DXA or DEXA). A DEXA scan shows your bone density, and is safe to repeat every 2 to 3 years if needed. It has lower radiation than normal X-Rays.

If your doctor thinks you’re at risk for osteoporosis, they may recommend a DEXA screening as early as age 50. A DEXA scan will usually involve you laying down on a table, and only takes a few minutes to complete.

According to AAOS, your DXA results come in the form of a “T score,” which compares your bone density to that of a healthy 30-year-old.

While some people have a genetic predisposition to developing osteoporosis, there are several other risk factors that contribute.

Age

The National Institute of Aging explains that bone mass naturally stops increasing around age 30. In your 40s and 50s, your bone mass may be breaking down more than it’s being replaced. This process happens without you knowing or even feeling it.

While osteoporosis can develop at any age, it’s most common in older adults. You may also be at a greater risk if you break a bone after the age of 50.

The risk of developing osteoporosis in women increases with age, especially after menopause. Menopause usually begins around ages 45 to 55. During menopause, estrogen levels are lower.

Gender

Osteoporosis can affect anyone.

However, certain groups have a higher prevalence of osteoporosis. Most health data categorizes participants by their sex and gender assigned at birth. Overall, women are more likely to experience osteoporosis than men.

This is due in part to:

• Estrogen loss during menopause. Estrogen is the dominant hormone in most women.
• Smaller bones. On average, women tend to be smaller in stature than men, and have smaller bones. This means the effects of osteoporosis might appear sooner, and be more severe, in women.
• Surgery. Having ovaries removed or a hysterectomy can increase chances of osteoporosis.

Trans people and others on hormone replacement therapies, or who have certain surgeries, may also be at risk of developing osteoporosis. It’s important to talk with your doctor to come up with an individualized picture of your risk factors, and any plans for your care.

Race

The National Institutes of Health report non-Hispanic white women and Asian women have the highest prevalence of osteoporosis.

2011 research found that Black Americans have higher bone mineral density on average (BMD). However, the authors found that Black people were found more likely to die from a hip fracture, have longer hospital stays, and be less mobile after discharge.

Most experts agree osteoporosis is under-diagnosed in the general population. And screenings are not accessed equally by all.

For example, a 2008 study documented a 5 percent sample of Medicare beneficiaries 65 years or older. It reported percentages of people who received a DEXA scan between 1999 and 2005. Of those eligible, 31.3 percent of white women got the DEXA scan, compared to 15.3 percent of Black women.

There’s even imbalance in the way osteoporosis is studied. A 2021 overview of Genome-wide association studies (GWAS) for osteoporosis summarized that “The condition of genetic resources and analyses overwhelmingly centered on individuals of European ancestry would lead to imbalances in the subsequent translatability of findings.”

Lifestyle

Certain lifestyle factors may also increase your risk of developing osteoporosis, including:

• physical inactivity
• extended bedrest
• smoking
• not getting enough vitamin D or calcium through diet or supplementation
• substance and alcohol use

Certain medications

Medications that may increase your risk of bone loss include:

• aluminum-containing antacids
• corticosteroids taken for asthma, arthritis, and other conditions
• certain immunosuppressing drugs, such as methotrexate
• breast and prostate cancer drugs
• depo-progesterone in birth control shots
• heparin, taken for blood clots
• lithium
• antiseizure drugs
• thyroid hormone medications, when taken long-term
• selective serotonin reuptake inhibitors (SSRIs) for anxiety and depression (when taken long-term)
• thiazolidinediones (TZDs) for diabetes (when taken long-term)
• diuretics

These risks are mostly associated with long term use of a medication at a high dose.

For most people, the risk factor is so small it wouldn’t warrant stopping or changing your medication. If you’re worried about being on a medication associated with osteoporosis risk, talk with your doctor. Do not stop taking your medication without consulting them.

Whether or not you have a genetic predisposition to osteoporosis, taking preventive measures can make all the difference.

Here are some ways you may be able to strengthen and protect your bones:

Additionally, it’s important to help prevent your risk of falls as you age. A seemingly minor accident can lead to fractures if you have lost bone density.

While lifestyle changes are crucial to preventing further bone loss, you may require additional treatments if you’ve already lost a lot of bone density.

Your doctor may discuss the following options with you:

• Supplements. Calcium and vitamin D are recommended to keep bones strong.
• Medications. Bisphosphonate medications like Alendronate and Risedronate help slow bone loss.
• Estrogen replacement therapy. This is most often used for post-menopausal people.
• Physical therapy. Working with a physical therapist can help you build stability and strength to prevent falls and keep your bones strong.
• Mobility aids or assistive devices. Canes, walkers, and other aids can help you stay balanced and prevent falls.

Knowing your risk factors for osteoporosis development can help you implement strategies to prevent falls and fractures, and preserve your overall quality of life.

Researchers are still studying genetic differences that could influence the way bones are formed and maintained, and how to preserve bone density in people who may be at risk for developing osteoporosis.

If you have a family history of osteoporosis, or believe you have certain risk factors for developing this disease, it’s important to talk with your doctor. They may order testing to determine your current bone mass and develop a treatment and prevention plan.