According to a report published in Nature Genetics, an international
consortium of scientists has identified multiple genes that are linked to systemic
lupus erythematosus.
Systemic lupus is a chronic inflammatory disease that can
involve many organs, and often strikes the joints, kidneys, heart, lungs brain
and the blood.
The interaction of genetic variants and environmental
factors are thought to contribute lupus susceptibility and severity, so the
variants are a diagnostic tool and not a confirmation of disease. Lupus affects
between 1 million and 2 million Americans, mostly women.
Currently there is no cure for lupus, but early diagnosis
and proper medical treatment can significantly reduce inflammation, pain and
stop future complications.
In 2005 the Alliance
for Lupus Research (ALR) formed and supported the International Systemic Lupus
Erythematosus Genetics (SLEGEN)
Consortium, charging scientists with searching for genetic variants that might
predispose an individual to developing lupus.
In the past there years, the researchers studied the DNA of
more than 6,700 women, including individuals with lupus, their family members
and control subjects. Their goal was to identify single nucleotide polymorphisms
(SNPs) linked to lupus. SNPs are locations on chromosomes where a single unit
of DNA, or genetic material, may vary from one person to the next.
SLEGEN Director John B. Harley, M.D., Ph.D., explained that
the study found strong evidence of association with multiple single nucleotide
polymorphisms (SNPs) in three genes: ITGAM; KIAA1542; PXK; and at SNP
rs10798269, a DNA unit not found within any known gene.
ITGAM is important for both the adherence of immune cells
and for cleaning up pathogens, while KIAA1542 is important for translating the
DNA code into proteins. The results also showed evidence linking
lupus to nine other genes.
“This initial, important discovery will prove invaluable to
all those affected by lupus,” said Barbara Boyts, president of the Alliance for Lupus
Research. “We are hopeful that this information will lead to new and better
treatment possibilities and, eventually, a cure for lupus.”
The scientists are now focusing their attention on specific
pathways and genes, trying to dissect the precise
molecular mechanisms by which these genes contribute to the risk for lupus.
Genetic factors likely predict specific complications or patterns of
complications.
“These findings underscore that numerous genes, which are
often immune-function related, contribute to the risk of developing lupus,”
said Carl D. Langefeld, Ph.D., senior author from Wake Forest University School
of Medicine and co-director of SLEGEN.
“These results suggest biologic pathways that help us
understand the condition better and suggest additional genetic and non-genetic
triggers,” said Langefeld.
