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.
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