Would you believe that 1 in 3 females and 1 in 5 males over the age of 50 experience osteoporosis in their lifetime? In fact, osteoporosis is the most common cause of fractures in postmenopausal women and older men. Osteoporosis is a silent condition, which means it does not cause any signs or symptoms in its early stages. This is one of the primary reasons for its delayed diagnosis. Many people do not know they have osteoporosis until they break a bone. While many factors contribute to osteoporosis, the genetics behind it have been unclear. This article breaks down the genetic influences on bone health and explores how your genes may impact your risk of developing osteoporosis.
Osteoporosis: An Overview
Osteoporosis is a bone condition that develops when mineral density and bone mass decrease or when the structure and strength of the bone change.
As a result, bone strength decreases, increasing the risk of fractures.
There are two types of osteoporosis (depending upon the factors that affect bone metabolism):
- Primary osteoporosis: Bone loss occurs as a part of normal human aging
- Secondary osteoporosis: Bone loss occurs due to specific clinical conditions
At What Age Does Osteoporosis Start?
From 25 to 50 years of age, bone density remains relatively stable.
However, at age 50, the bone breakdown (bone resorption) is greater than bone formation.
As a result, bone loss increases.
In females, it occurs during around menopause.
The risk of osteoporosis is higher in females than males.
The First Signs Of Osteoporosis
Since osteoporosis is a silent disease, the first sign of osteoporosis is usually a broken bone or fracture.
Bones affected by osteoporosis often become fragile and susceptible to fractures that can occur as a result of:
- Minor falls
- Everyday activities like bending, lifting, and coughing
Is Osteoporosis Genetic?
An overwhelming body of research suggests that genetics plays a big role in the development of osteoporosis.
A family history of the condition greatly influences one’s likelihood of developing the condition.
For example, having a sibling with low bone mineral density increases one's risk for the same by sixfold.
Genes that influence bone density and strength, levels of vitamin D and calcium, production of collagen, etc., contribute together to osteoporosis risk.
What Percentage Of Osteoporosis Is Genetic?
Genetics contributes to around 75% of bone mineral density.
Osteoporosis is heritable, and heritability ranges from 50 to 83%.
Genes That Influence Osteoporosis Risk
Osteoporosis is a complex condition involving several factors, including genetics, diet, exercise, and other lifestyle factors.
To date, 70+ genetic variants have been found to be associated with osteoporosis.
Vitamin D Receptor(VDR) Gene
Some studies have shown that mutations (abnormal changes) in the VDR gene may affect vitamin D and calcium metabolism, reducing bone density.
COL1A1 Gene
The collagen type 1 alpha 1 chain (COL1A1) gene gives instructions for producing type 1 collagen.
Type 1 collagen is a major component of bone.
Any abnormal changes or variations in this gene can increase the risk of osteoporosis.
It is essential to understand that having these gene mutations does not mean one will develop osteoporosis.
Other genetic variants that may contribute to the development of osteoporosis include:
BMP2 Gene
Bone morphogenetic protein 2 or BMP 2 activates both osteoblasts (cells that help form new bones) and osteoclasts (cells that dissolve old and damaged bones).
Mutations in this gene can result in mixed signals that may increase the rate of bone loss than bone formation, leading to osteoporosis.
- Genes that interfere with the Wnt signaling pathway
This pathway enables bone repair and maintains bone mass.
When this pathway is interrupted, bone repair is affected, weakening bone.
Few genes that may interfere with this process include- AXIN1, CTNNB1, DKK1, GPR177, JAG1, LRP4, LRP5, MEF2C, RSPO3, SFRP4, SNT16, SOST, WNT4, WNT5B, and WNT16.
- Genes that interfere with the RANK-RANKL-OBG pathway
This pathway is responsible for producing proteins that help activate and differentiate various types of bone cells.
Gene variants that interfere with this pathway include– NFRSF11, TNFRSF11A, and TNFRSF11B.
- Endochondral ossification
This is a process where bone minerals replace the cartilage structure in the bone.
Gene variants that can interfere with this include IBSP, PTHLH, RUNX2, SOX6, SOX9, SPP1, and SP7.
Can Osteoporosis Run In Families?
Yes, osteoporosis does run in families.
Is Genetic Osteoporosis Preventable?
Certain risk factors of osteoporosis, such as age, sex, and family history, cannot be changed.
However, you can follow a healthy diet and exercise to improve your bone health.
Dietary modifications that you can make to prevent osteoporosis include:
- Eating a healthy diet rich in calcium
- Getting adequate vitamin D
Other Risk Factors For Osteoporosis
Besides genetics, other risk factors for osteoporosis include:
- Sex at birth: Females have a lower peak bone mass and smaller bones than males. Hence, they have a higher risk of osteoporosis.
- Age: With age, bone loss occurs at a faster rate than bone formation, leading to lower bone density and a higher risk of osteoporosis.
- Diet: A diet low in vitamin D, calcium, and protein or excessive dieting/crash diets can lead to bone loss and osteoporosis.
- Hormonal changes: Low estrogen levels in females and testosterone levels in males, and too much thyroid hormone can increase the risk of osteoporosis.
- Body frame size: Small-framed people are at a greater risk for osteoporosis as they may have lower bone mass.
- Ethnicity: White people and people of Asian descent have a higher risk of osteoporosis.
- Medications: Long-term use of medicines like glucocorticoids, anti-epileptics, proton pump inhibitors, selective serotonin reuptake inhibitors, and certain cancer medications can result in bone loss.
- Other health conditions: Certain health conditions like gastrointestinal disorders, rheumatoid arthritis, anorexia, HIV/AIDS, kidney or liver disease, and cancer can increase osteoporosis risk.
- Smoking and alcohol consumption: Both these habits have been associated with bone loss and osteoporosis.
Who Is More Prone To Osteoporosis?
Both males and females can develop osteoporosis.
However, the risk is highest among post-menopausal white and Asian women.
Diagnosis And Treatment
Diagnosis of osteoporosis usually includes a physical examination, during which the doctor checks for:
- Loss of height and weight
- Postural changes
- Loss of balance or abnormal gait
- Loss of muscle strength
Your doctor may also order a test to measure your bone mineral density.
The most common test for measuring bone mineral density is dual-energy x-ray absorptiometry (DEXA).
5 Science-backed Tips To Prevent Osteoporosis
Here are some ways to prevent osteoporosis:
- Eat calcium-rich foods, including leafy greens and dairy
- Get enough time out in the sun to keep your vitamin D levels up
- Include weight-bearing exercises and strength training activities in your daily exercise routine
- Avoid smoking
- Limit your alcohol consumption
Can Osteoporosis Be Reversed?
Unfortunately, osteoporosis is not reversible.
However, the good news is that lifestyle modifications like a nutrient-dense diet, weight-bearing exercises, and supplements can prevent further bone loss.
Summary: Is Osteoporosis Genetic?
- Osteoporosis is a bone condition that develops when mineral density and bone mass decrease or when the structure and strength of the bone change.
- Osteoporosis is a silent disease because it shows no signs or symptoms till a bone is broken.
- Osteoporosis has a strong genetic component, and genetics contributes to 75% of bone mineral density.
- Over 71 genetic variants, including the VDR and COL1A1 gene, are associated with osteoporosis.
- Osteoporosis runs in families, and having a first-degree relative with the condition increases one’s risk of developing the condition.
- The risk of osteoporosis is highest among white and Asian post-menopausal women.
- Eating a healthy, calcium-rich diet, getting enough vitamin D, and exercise can prevent further bone loss
References
- https://www.medicalnewstoday.com/articles/osteoporosis-genetics/
- https://pubmed.ncbi.nlm.nih.gov/10927613/
- https://www.healthline.com/health/is-osteoporosis-genetic/
- https://med.stanford.edu/news/all-news/2018/07/osteoporosis-fracture-risk-predicted-with-genetic-screen.html
- https://pubmed.ncbi.nlm.nih.gov/17466098/
- https://www.verywellhealth.com/is-osteoporosis-genetic-6890720
- https://academic.oup.com/edrv/article/23/3/303/2424201?login=false
