A variant of a gene called PDCD1 is associated with susceptibility to lupus, a team of researchers report in the December issue of Nature Genetics. Lupus is a complex disease affecting 1 in 2000 people in Western countries, most of them women. Typically, the immune system attacks the skin, joints, blood and kidneys of affected individuals, leading to debilitating inflammation. Although a genetic component has been suspected, the particular genetic variants that are involved have been difficult to pin down.
Mice lacking PDCD1 had previously been shown to develop a lupus-like disease, and previous studies of humans had linked lupus-susceptibility to a region on chromosome 2, which contains the human gene. In the new study, Marta Alarcón-Riquelme and colleagues sequenced PDCD1 in more than 2,500 individuals with lupus, as well as healthy controls. They found that a particular variant of PDCD1 was over-represented in individuals with lupus in both European and Mexican populations. The authors propose that this variant might be expressed at abnormal levels in cells of the immune system. As PDCD1 is known to affect the ability of the immune system to distinguish self from non-self, its altered expression might contribute to the hyperactive immune response that is characteristic of lupus.
Institute of Genetics & Pathology
University of Uppsala
Tel: +46 18 4714805
Also see online.
(C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
Bookmark and Share this page (what is this?)
Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.
Use the links below to share this article on the social bookmarking site of your choice.
Read more about social bookmarking at Wikipedia - Social Bookmarking
Variants Associated with Pediatric Allergic Disorder
Mutations in PHF6 Found in T-Cell Leukemia
Genetic Risk Variant for Urinary Bladder Cancer
Antibody Has Therapeutic Effect on Mice with ALS
Regulating P53 Activity in Cancer Cells
Anti-RNA Therapy Counters Breast Cancer Spread
Mitochondrial DNA Diversity
The Power of RNA Sequencing
‘Pro-Ageing' Therapy for Cancer?
Niche Genetics Influence Leukaemia
Molecular Biology: Clinical Promise for RNA Interference
Chemoprevention Cocktail for Colon Cancer
more news ...