Researchers studied 85 people with ankylosing spondylitis (a disease that causes back pain and stiffness) and 100 healthy people to understand why some people develop this condition. They looked at specific genes related to vitamin D and immune system proteins, plus a virus called Torque teno virus. The study found that certain genetic variations and the presence of this virus may increase the risk of developing ankylosing spondylitis. While these findings are promising for future diagnosis and treatment, the results are still preliminary and need confirmation in larger studies.

The Quick Take

  • What they studied: Whether certain genes and a specific virus are connected to ankylosing spondylitis, a disease that causes inflammation and stiffness in the spine
  • Who participated: 85 people diagnosed with ankylosing spondylitis and 100 healthy people without the disease, all used as a comparison group
  • Key finding: People with ankylosing spondylitis were more likely to have a specific virus (Torque teno virus) and certain genetic variations in vitamin D-related genes, suggesting these factors may play a role in developing the disease
  • What it means for you: This research may eventually help doctors identify who is at risk for ankylosing spondylitis earlier and develop better treatments, though more research is needed before these findings can be used in clinical practice

The Research Details

This was a case-control study, which is like comparing two groups of people: those who have a disease and those who don’t. Researchers looked at 85 people with ankylosing spondylitis and 100 healthy people to see what differences they could find. They examined specific spots in their DNA (called polymorphisms) that affect how vitamin D works in the body and how the immune system responds to infections. They also tested whether people had a virus called Torque teno virus, which scientists believe can tell us about how strong someone’s immune system is.

The researchers used special laboratory techniques to identify these genetic variations. They extracted DNA from blood samples and used PCR (a method that copies specific DNA pieces) combined with other techniques to identify which genetic versions each person had. This allowed them to compare the genetic patterns between people with ankylosing spondylitis and healthy people.

Case-control studies are useful for finding potential causes of diseases because they let researchers compare people who have a disease with people who don’t. By looking at genetic differences and viral infections, scientists can identify risk factors that might explain why some people develop ankylosing spondylitis. Understanding these connections could eventually lead to better ways to diagnose the disease earlier and develop treatments that target the specific causes.

This study has a moderate sample size (185 total participants), which is reasonable but not huge. The researchers used established laboratory techniques that are reliable for identifying genetic variations. However, because some findings didn’t remain significant after statistical correction (a method to reduce false positives), readers should be cautious about over-interpreting results. The study is preliminary and would benefit from confirmation in a larger group of people.

What the Results Show

The most important finding was that Torque teno virus appeared more frequently in people with ankylosing spondylitis compared to healthy people. This suggests the virus may be connected to developing the disease, though it doesn’t prove the virus causes it.

The researchers also found that certain genetic variations in the vitamin D receptor gene (specifically the rs1544410 version) were more common in women with ankylosing spondylitis. This was one of the strongest findings in the study and remained significant even after applying strict statistical corrections.

Another genetic variation (rs2228570) in the vitamin D receptor gene, when combined with the presence of Torque teno virus, appeared to increase the risk of ankylosing spondylitis. This suggests that having both the genetic variation and the virus together might be particularly important.

The study also identified certain combinations of genetic variations (called haplotypes) that might either protect people from ankylosing spondylitis or increase their risk, depending on which combination they inherited.

Other genetic variations in the IL-6 gene (rs1800795) and vitamin D receptor gene (rs731236) showed associations with ankylosing spondylitis, but these associations were weaker and didn’t remain significant after applying strict statistical corrections. These findings suggest these genes might play a role, but the evidence is less certain.

Previous research has suggested that vitamin D and immune system proteins like IL-6 are important in ankylosing spondylitis. This study supports those earlier findings by showing that genetic variations affecting these molecules are more common in people with the disease. The connection to Torque teno virus is newer and adds to growing evidence that viral infections might trigger or contribute to autoimmune diseases like ankylosing spondylitis.

The study had a relatively small number of participants, which means the findings might not apply to all populations. Some of the genetic associations didn’t remain significant after applying statistical corrections designed to prevent false positives, making those findings less reliable. The study is from one geographic region and may not represent all ethnic groups. Additionally, because this is a case-control study, it shows associations but cannot prove that these genes or the virus actually cause ankylosing spondylitis—only that they appear more frequently in people who have it.

The Bottom Line

Based on this preliminary research, there are no immediate changes people should make to their daily lives. The findings suggest that in the future, doctors might use genetic testing and virus detection to identify people at higher risk for ankylosing spondylitis, but this is not yet ready for clinical use. People with a family history of ankylosing spondylitis should continue to discuss their risk with their doctors, and anyone experiencing back pain and stiffness should seek medical evaluation.

This research is most relevant to people with ankylosing spondylitis, their family members who may have inherited similar genes, and healthcare providers treating this disease. People experiencing unexplained back pain or stiffness should be aware that genetic and viral factors may play a role. However, these findings don’t yet change how the disease is diagnosed or treated in everyday medical practice.

This research is in early stages. It will likely take several years of additional studies before these findings could be used to develop new diagnostic tests or treatments. Confirmation in larger, diverse populations is needed before clinical applications.

Want to Apply This Research?

  • Users with ankylosing spondylitis could track back pain and stiffness severity daily (using a 0-10 scale) along with any viral illness symptoms, to help identify personal patterns and discuss with their healthcare provider
  • Users could log family history of ankylosing spondylitis or autoimmune diseases and share this information with their doctor, as genetic predisposition appears important based on this research
  • Maintain a long-term log of disease activity and any infections experienced, which could help users and their doctors understand individual triggers and patterns while awaiting future diagnostic advances

This research is preliminary and has not yet been applied to clinical diagnosis or treatment. The findings suggest associations but do not prove cause-and-effect relationships. Anyone with symptoms of ankylosing spondylitis or concerns about their risk should consult with a rheumatologist or other qualified healthcare provider. Genetic testing for these specific variations is not currently recommended for routine clinical use. This summary is for educational purposes and should not replace professional medical advice.