World Lupus Day 2017: Exclusive Interview With Dr. Swapan Nath, Oklahoma Medical Research Foundation

World Lupus Day is observed on 10 May to raise awareness about systemic lupus erythematosus or lupus. This condition is caused when the body’s own immune system attacks healthy tissues, giving rise to various symptoms. Symptoms of the Disease:

The symptoms of the disease are characterized by

• joints that are painful and swollen
• fever
• chest pain
• hair loss
• ulcers in the mouth
• red rash

People with this condition are often at higher risk for cardiovascular disease. Lupus is a disease condition that is difficult to treat and very difficult to identify. It is a debilitating disease but very few people are aware about this condition.

A global survey conducted by the World Lupus Foundation showed that

• 51% of the respondents did not know the complications associated with lupus
• 35% of the respondents did not know that lupus was a disease

Incidence of lupus:

• 20 to 70 per 100,000
• Pregnant women have a nine times higher chance of being affected by lupus than men
• Chinese, Africans and Caribbeans are more often affected

World Lupus Day: This was first initiated in 2004, considering the lack of awareness about the condition among medical practitioners and in society in general, resulting in late diagnosis of the condition.

World Lupus Awareness Month: Certain organizations like the Lupus Foundation of America, observe the entire month of May as World Lupus Awareness Month. The organizations encourage people to wear purple, especially on 19 May.

Theme for World Lupus Day 2017: “Lupus Knows No Boundaries”

The theme has been carefully selected to generate knowledge and awareness on lupus as a global health concern, affecting people of all ethnicities and geographical location.

Vitamin D Levels and Lupus:

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People suffering from systemic lupus erythematosus have a high prevalence of vitamin D deficiency which could be due to photoprotection measures, apart from the intrinsic factors of the disease

• Low vitamin D levels could increase the risk of fracture due to low bone mineral densit.
• Vitamin D deficiency is also associated with negative effects on the immune response of a patient, increasing loss of tolerance and autoimmunity.

People with lupus should get their Vitamin D levels monitored routinely and should have vitamin D levels higher than 30–40ng/ml.

Causes for the Condition:

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The causes for this condition are a combination of genetic, environmental and hormonal factors. An Indian American researcher, Dr. Swapan Nath identified 10 new genes associated with systemic lupus erythematosus last year. Dr. Nath is a senior scientist with the Oklahoma Medical Research Foundation (OMRF) and gained International fame through this landmark study that analyzed more than 17,000 human DNA samples. About 4,500 of these samples were from patients with the disease condition while the others served as control. Dr. Nath said, "We know lupus has a strong genetic basis but in order to better treat the disease, we have to identify those genes."

Dr. Swapan Nath is currently a member of the Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation and an adjunct Professor at the Department of Pathology, Oklahoma University Health Science Center.


Some of his awards and recognitions include:

• Young Scientist Award in Population Genetics from Indian Society of Human Genetics (1993)
• Travel Grant Award, Federation of Clinical Immunology Societies (FOCIS) -2002
• Merrick Award for Outstanding Research, OMRF (2006)
• J. Donald and Patricia H. Capra Distinguished Scientist (2008)
• Travel Grant Award, Federation of Clinical Immunology Society (FOCIS)-2012,2013
• Edward L. and Thelma Gaylord Prize for Scientific Excellence (OMRF)-2016

Here is an excerpt of an exclusive interview with Dr. Swapan Nath about genes associated with lupus to mark the World Lupus Day 2017

Q. What interested you in taking up research on lupus?

Ans. I was interested and trained in studying the genetics of common and complex diseases. Lupus is a chronic, complex, heterogeneous autoimmune disease that can damage any part of the body (skin, joints, and/or organs inside the body like kidneys,). Although the etiology of lupus is poorly known, it is determined by the combination of genetics, epigenetics and environmental factors. So, I was fascinated by the clinical variability and genetic complexity.

Q. What is the prevalence of Lupus?

Ans. The prevalence of lupus varies between ethnicities. For example, prevalence and disease severity are higher in African-American, Hispanic or Asian women compared to Caucasian women.

Q. You discovered 10 genes associated with lupus. Which one is the most significant?

Ans. Lupus is a multifactorial genetic disease that means lupus phenotypes are influenced by the actions of several genes and environmental factors. Based on the genetics data from our lab as well as other labs, it is now suspected that over 60 genes are involved in lupus susceptibility. So, it is difficult to say which one is the most significant for lupus. Rather, I would say that every gene will be important in some way…

However, several Interferon regulatory genes, Complement system genes, Cytokine regulatory genes and immune cell type-specific transcription factors are consistently identified in several studies across multiple ethnically diverse populations.

Q. Will this pave the way for personalized medicine?

Ans. That is the ultimate goal of the current research. Since lupus is such a diverse clinically heterogeneous disease that there is no known clear cut common genetic/epigenetic causes or mechanisms or environmental triggers for lupus. So, every patient is a unique variation of the human genome.

Although most of the variations in human genome may not have any effect on disease phenotype, current genetic research will soon catalog the variations in the susceptibility genes that are most likely influence the disease phenotypes. The advances of personalized medicine rely on the technologies that confirm a patient’s fundamental biology using DNA, RNA, or protein, which ultimately leads to disease manifestations. Therefore, I do believe that some of what we are discovering today in lupus genetics, will be useful for personalized medicine of personalize therapy in near future.

Q. How much do Vitamin D levels affect the severity of lupus?

Ans. Several studies have highlighted the association between vitamin D and disease activity in lupus. However, a recent clinical trial to check the effectiveness of Vitamin D supplementation on the disease activity of Vitamin D-deficient lupus patients did not show better outcome. So, more research is required to understand the relation between Vitamin D levels and disease severity.

Q. As India has an abundance of sunshine, is the severity lower here?

Ans. It is an interesting question. The importance of vitamin D and its association with various autoimmune diseases including lupus has been reported.

However, it is a little paradoxical to note that an insufficiency of vitamin-D is widely prevalent in the Indian subcontinent, although there is plenty of sunshine. Vitamin-D deficiency is prevalent among normal healthy individuals as well as among lupus patents. Interestingly, the disease severity is also negatively correlated with vitamin-D level.

Q. What is the hereditary pattern for people with lupus? Should first degree relatives of patients be screened for the condition?

Ans. Lupus is a genetic disease, but the pattern of inheritance is not like a simple Mendelian pattern. However, relatives of patients with lupus appear to be at higher risk of developing lupus. Earlier research on twins show that there is a 10-fold increased concordance in monozygotic compared with dizygotic twins. Heritability, which is defined as the proportion of the phenotypic variance explained by genetic factors, is estimated to be 66% in SLE. Therefore, it is wise to screen the first degree relatives of a lupus patient, especially sisters or female relatives.

Q. What does the future hold for people with lupus?

Ans. Significant progress has been made for the last 10 years in terms of understanding lupus, but more research is required to know more about the disease pathogenesis. But, the way research is moving, I am very optimistic that researchers will come up with better therapeutic intervention in the near future.

Q. What is your message on this World Lupus Day?

Ans. Who’s afraid of lupus? We will conquer it.

References:

1. Lupus Knows No Boundaries E-Report - (http://www.worldlupusday.org/e-report.html)
2. Lupus Awareness Month 2017 - (http://www.lupusawarenessmonth.org/)
3. Bone Health, Vitamin D and Lupus - (http://www.reumatologiaclinica.org/en/bone-health-vitamin-d-lupus/articulo/S2173574314001804/)
4. Vitamin D in Lupus - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185297/)
5. Lupus Awareness Month Begins May 1st! - (http://www.lupusil.org/lupus-awareness-month-2017.html)
6. World Lupus Day - May 10 - (http://www.lupus-sle.org/world-lupus-day---may-10.html)

Source-Medindia