Alarcón-Riquelme, Marta E., MD, PhD
Uppsala University (Sweden)
Evidence suggests that genetic factors play an important role in the development of lupus. Through genetic analyses of DNA samples from a large number of families in which one or more individuals have lupus, Dr. Alarcón-Riquelme and her colleagues have identified a specific variation in a gene known as PDCD1 that is associated with susceptibility to lupus. The PDCD1 gene is responsible for production of the PD-1 protein, which is found in several types of immune system cells. This study will provide information about the PD-1 protein and the molecular pathway in which it participates, and on how this pathway contributes to the development of lupus. Dr. Alarcón-Riquelme will also use family-based genetic approaches (similar to those used to identify the PDCD1 lupus susceptibility gene) to search for additional genes involved in lupus susceptibility.
What this study means for people with lupus: Finding genes involved in lupus susceptibility and learning how they contribute to disease development will provide information that could lead to new, more targeted treatments and bring us closer to a cure. In addition, such knowledge might someday enable doctors to tailor treatments to individual patients according to the particular genetic risk factors a person has for the disease.
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