Access: Lupus Research -- Genetics
Research Summaries from 2012
Genetics of Lupus-Related Phenotypes
Genetic factors play a significant role in the susceptibility to developing lupus, but the relationship of genetic risk factors to lupus-related phenotypes (such as the presence or absence of specific autoantibodies) has remained largely unexplored. This study utilized both genetic data from lupus patients and data from public genetic databases to relate genetic lupus susceptibility to specific lupus-related phenotypes in European and African-American lupus patients. The results indicate that distinct sets of autoantibodies are associated with specific genetic risk variants in European and African-American lupus patients. These findings highlight that lupus can manifest in unique ways in people of different ethnic origins and that this can be at least partially related to genetic factors.
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Europeans at Decreased Risk of Lupus Nephritis
Lupus-related kidney disease is significantly more common in African-Americans, Hispanics, and East Asians for reasons that have not been fully explained. Genetic and/or socioeconomic factors may contribute significantly to these trends. The results of this study indicate that lupus patients of European descent are at significantly decreased risk of developing lupus-related kidney disease. This trend persisted in spite of statistical adjustments for possible differences in specific genetic markers and socioeconomic status.
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Interferon-Associated Risk for Premature Heart Disease Among People with Lupus
People with lupus are at increased risk for premature heart disease. Among lupus patients, lupus disease activity is even more important than traditional risk factors for heart disease. Type I interferon, a protein which plays a major role in the etiology of lupus, may have a significant role in the development of premature heart disease in people with lupus. The researchers examined the relationship between type I interferon and premature heart disease among people with lupus and also among women who do not have lupus or other related diseases. Three specific indicators of premature heart disease was studied in these populations. The researchers identify specific heart-related factors that lupus patients should work with their doctors to monitor over time.
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Men Require More Lupus Genes to Develop Lupus Lupus is thought to develop due to a combination of both genetic and environmental factors and is more common in women. Numerous studies have identified genes that increase the likelihood of developing lupus. The disparate incidence of lupus in women over men may be related to sex-specific genetic or hormonal factors. However, the degree to which these sex-specific factors favor the development of lupus in women over men has not been well established. The results of this study indicate that men require more lupus genes than women in order to develop lupus. The implications of these results are discussed in the context of possible sex- and hormone-related differences between men and women with lupus.
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Research Summaries from 2011
Genetic Profiling Can Predict Some Lupus ManifestationsPeople with lupus can experience a wide variety of disease-related manifestations, including nephritis (kidney inflammation) and skin rashes. The variability of these symptoms likely results from underlying genetic factors. While most studies have focused on identifying the presence of specific genes that increase the risk of developing lupus, few studies have focused on which genes may give rise to which manifestations of lupus. Identification of which genes may be associated with which lupus manifestations could help facilitate the future development of personalized medicine for people with lupus.
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Research Summaries from 2010
Twin Study Seeks to Unravel Genetic Clues to Lupus Development
DNA contains the blueprints for all the proteins in the body. DNA is wound up in tight coils and when a cell wants to make a protein, these coils unravel to expose the instructions for making that protein. The degree to which DNA stays tightly coiled or loosens up is influenced by whether or not chemicals called "methyl groups" are attached to specific parts of the DNA. The researchers hoped to find out if DNA methylation is different between twins when one twin has lupus and the other does not.
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Research Summaries from 2007
Risk Factors for Pneumonia
Pneumonia is the most common form of lung disease in lupus patients. The researchers for this study wanted to see if they could identify specific risk factors for pneumonia among lupus patients. The researchers found that being male, having had lupus nephritis or leucopenia, and treatment with immunosuppressive drugs were all associated with a higher risk for getting pneumonia, but the strongest association was a specific variation in a gene that plays a role in the production of a molecule called tumor necrosis factor (TNF).
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Women and Lupus: The Inactive X Awakens
Lupus usually affects women: in fact, 90 percent of people diagnosed with lupus are female. Scientists have discovered interesting ways the two X chromosomes in females function that could predispose women to developing lupus.
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TLR7 Gene May Play Role in Higher Female Prevalence in Lupus
Lupus affects women far more often than men, by a ratio of 9 to 1. New research has identified one reason why this may occur. At the basis of the research is the interplay between genes that we inherit, immune cells in the body, and the chemicals involved in inflammation.
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Genes May Play Role in Effectiveness of Anti-Malarials for Lupus
Some lupus patients may inherit genes that make them more likely to respond to anti-malarial therapy than other patients. If so, this could help guide doctors in choosing treatments.
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Research Summaries from 2006
Smoking May Be Related to Increased Risk for Developing Lupus
That exposure to tobacco smoke is hazardous to health is by no means breaking news, but what may come as a surprise is that smoking has been associated with a number of autoimmune diseases, including rheumatoid arthritis, multiple sclerosis, and autoimmune thyroid disease – and may actually increase a person’s susceptibility to lupus. One current idea is that smoking-related damage to the genetic material in a cell (DNA) will lead to the formation of antibodies to double-stranded DNA (dsDNA), which may in turn have a role in the development of lupus.
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