[PARTNER] Genetics May Be Key in Detecting Causes of Lupus

A patient education session for lupus patients focusing on stress reduction and 'listening to your body.' (Photo courtesy of the Lupus Foundation of Northern California)

A patient education session for lupus patients focusing on stress reduction and 'listening to your body.' (Photo courtesy of the Lupus Foundation of Northern California)

Lupus is a chronic, autoimmune disease that can affect many different parts of the body, including the skin, joints, kidneys, lung, heart, brain and blood vessels. This happens when the body's immune system attacks its own tissues and organs, resulting in inflammation. It is a disease that is very difficult to diagnose because symptoms mimic those of many other diseases and conditions.

Currently, there is no cure for lupus, although recent advances in treatment and medication provide many options that can lead to a better quality of life for those living with the disease.

The exact cause of lupus is unknown, although it is widely believed that genetics play an important role on who gets lupus, what triggers the onset of the disease and the flares, and why individuals respond differently to treatment and drugs.

An estimated 1.5 million Americans have been told by their doctor that they have lupus. Nine out of ten people diagnosed with the disease are women, and communities of color – especially African Americans, Asians (including Filipinos) and Latinos – have a higher incidence and prevalence of the disease.

Documented cases as well as patients’ testimonials also seem to confirm that the chances of lupus affecting individuals increase if they have a family member who also has the disease.

Many who follow the career of singer Lady Gaga will remember that some time ago, Lady Gaga appeared on CNN to say that she underwent testing for lupus and the result was that she was borderline positive (presence of antibodies to lupus but no specific symptoms usually associated with the disease.) And the reason she did go for testing is because she had an aunt who died of lupus. Lady Gaga realized that by virtue of genetics, she could be a candidate for the disease.

Volunteers who recently completed a training to become instructors for lupus patient education classes designed for newly-diagnosed lupus patients and their families. (Photo courtesy of the Lupus Foundation of Northern California)

Volunteers who recently completed a training to become instructors for lupus patient education classes designed for newly-diagnosed lupus patients and their families. (Photo courtesy of the Lupus Foundation of Northern California)

And yet, there have been some studies involving identical twins, where only one had lupus and the other didn’t, which may support the idea that in additional to genetics, environmental triggers can also cause lupus. It is possible that though twins have almost identical or similar DNAs, they probably have been exposed to environmental factors differently.

Some of the environmental factors that are known to possibly cause lupus include extreme stress, exposure to ultraviolet light usually from sunlight, smoking and even some medications.

GENETIC STUDY

23andMe is a personal genetics company that analyzes the genetic make-up of their clients or customers. It is used by some who are trying to pursue their genealogy, that is tracing their ancestry. The company has been conducting genetic studies to help researchers determine the causes of certain diseases.

In partnership with pharmaceutical company Pfizer, Inc., 23andMe has launched the biggest-ever genetic study on lupus. The study will analyze the genetic make-up of thousands of people with lupus alongside their healthy history and environmental factors.

The goal is to uncover possible underlying genetic causes of the autoimmune disease, specifically those associated with the onset, progression, severity and response to treatment.

“Research on human genetics has enormous potential to deliver information that can help improve lupus treatment," said Margaret Dowd, president and CEO, Lupus Research Institute. “The more insights that researchers can gain, the faster better, safer drugs can be developed.”

One of the many teams that participate in the Annual 5K Run and Walk for Lupus in Saratoga to create greater public awareness about lupus and to raise funds for client programs and services. (Photo courtesy of the Lupus Foundation of Northern California)

One of the many teams that participate in the Annual 5K Run and Walk for Lupus in Saratoga to create greater public awareness about lupus and to raise funds for client programs and services. (Photo courtesy of the Lupus Foundation of Northern California)

23andMe has conducted similar genetic studies in other diseases with considerable success. For instance, over 10,000 people from around the world participated in a Parkinson’s disease project conducted with the Michael J. Fox Foundation and others that provided insights into how Parkinson’s affects men and women differently and uncovered new genes associated with the disease.  

The lupus study hopes to enroll 5,000 lupus patients. It will be the single largest genetic study of lupus anywhere in the world.

Results of this study would have a significant impact in the efforts to better understand what causes lupus, and to tailor lupus treatment based on patients’ genetic background.

Click here to learn more about the study and how you can join.


10 Things You Need To Know About Lupus

  1. It is an autoimmune disease. It is the result of the body’s immune system attacking healthy cells and tissues, causing inflammation and organ damage (kidneys, lungs, heart, brain, central nervous system).

  2. Symptoms. They mimic symptoms of many other diseases -- including the common cold, flu, joint pain, fever and rashes.

  3. What causes lupus? It is believed to be caused by both genetics and environmental triggers.

  4. Who gets lupus? Anyone can get lupus. Women and communities of color – African Americans, Asians and Latinos are disproportionately affected by the disease.

  5. Diagnosis. Lupus can be difficult to diagnose. It can take an average of 4 to 6 years, and after seeing 3 different doctors before a person is diagnosed with lupus. The American College of Rheumatology has established 11 criteria for diagnosing lupus. A patient with at least four of the 11 criteria can be officially given a lupus diagnosis.

  6. Is there a test to diagnose lupus? There is no single test to diagnose lupus. The doctor will look at a patient’s history, symptoms and order several blood tests (double-stranded DNA, ANA) before a diagnosis is made.

  7. Cure and Treatment. Currently, there is no cure for lupus, but there are medications that can treat specific symptoms. Doctors prescribe drugs to reduce inflammation, decrease production of antibodies that attack health cells and tissues, and treat infections.

  8. Lupus Flare. With most lupus patients there is an alternating period of lupus flare and remission. Flares can be triggered by environmental and other factors like sun exposure, stress, infections and even certain medications.

  9. Incidence and Prevalence. It is estimated that more than 1.5 Million Americans have lupus. Worldwide, the number is 5 Million and 100,000 more are diagnosed each year.

  10. Support. If you or someone you know has, or suspects having lupus, seek help from your doctor, Rheumatologist, or primary health care provider. Contact the Lupus Foundation of Northern California (www.lfnc.org) for resources, referrals, information and support.