The Alliance for Lupus Research (ALR) Research Grant, 2012 USA
Lupus is a complex immunological disorder characterized by interferon production, a loss of tolerance to self-antigens, persistent production of autoantibodies, complement activation, inflammation and tissue damage. There is significant variability in the severity of symptoms, and the disease tends to be relapsing and remitting in nature. Affected systems may include the skin, blood, heart, lungs, kidneys, joints and nervous system. Lupus can also be associated with pregnancy complications, including fetal loss.
The disorder can appear at any age but is most commonly diagnosed in patients between the ages of 20 and 45. Lupus is approximately 9 times more common in females than males and while it can affect people of all racial, ethnic and socioeconomic groups, lupus is especially prevalent in African Americans and people of Latino and Asian descent.
Patients with lupus may exhibit significant malfunction of both B cells and T cells. Potential abnormalities include dysregulation and expression of cytokines, abnormal development of B cell and T cell subsets, and the abnormal function of important signaling cascades. Lupus patients may also demonstrate alterations of macrophage and neutrophil function and vascular abnormalities.
The causes of lupus are obscure but the disorder is highly heritable and replicated linkages have been reported at several genomic sites. The disorder almost certainly involves a complex interaction between genes and the environment.
Advances in technology have made feasible, genome-wide association (GWA) studies searching for genetic variants associated with the disease. To facilitate the search for these genetic variants, the ALR funded the establishment of the Systemic Lupus Erythematosus Genetics Consortium (SLEGEN). The consortium, which currently consists of laboratories in the United States and Europe, has organized DNA samples, resources and expertise to hasten the discovery of relevant genomic regions. In 2008 SLEGEN reported the results of an SLE case-control GWA study and a large replication experiment, comprising a total of 6,728 women of European ancestry, complementing other GWA studies in lupus. More recently, additional genes and loci that are associated with lupus haven been revealed, with subphenotyping based on clinical manifestations or serologic profiles aiding analysis.
The disorder can appear at any age but is most commonly diagnosed in patients between the ages of 20 and 45. Lupus is approximately 9 times more common in females than males and while it can affect people of all racial, ethnic and socioeconomic groups, lupus is especially prevalent in African Americans and people of Latino and Asian descent.
Patients with lupus may exhibit significant malfunction of both B cells and T cells. Potential abnormalities include dysregulation and expression of cytokines, abnormal development of B cell and T cell subsets, and the abnormal function of important signaling cascades. Lupus patients may also demonstrate alterations of macrophage and neutrophil function and vascular abnormalities.
The causes of lupus are obscure but the disorder is highly heritable and replicated linkages have been reported at several genomic sites. The disorder almost certainly involves a complex interaction between genes and the environment.
Advances in technology have made feasible, genome-wide association (GWA) studies searching for genetic variants associated with the disease. To facilitate the search for these genetic variants, the ALR funded the establishment of the Systemic Lupus Erythematosus Genetics Consortium (SLEGEN). The consortium, which currently consists of laboratories in the United States and Europe, has organized DNA samples, resources and expertise to hasten the discovery of relevant genomic regions. In 2008 SLEGEN reported the results of an SLE case-control GWA study and a large replication experiment, comprising a total of 6,728 women of European ancestry, complementing other GWA studies in lupus. More recently, additional genes and loci that are associated with lupus haven been revealed, with subphenotyping based on clinical manifestations or serologic profiles aiding analysis.
0 comments:
Post a Comment