TY - JOUR T1 - Risk Alleles for Systemic Lupus Erythematosus in a Large Case-Control Collection and Associations with Clinical Subphenotypes A1 - Taylor, Kimberly E. A1 - Chung, Sharon A. A1 - Graham, Robert R. A1 - Ortmann, Ward A. A1 - Lee, Annette T. A1 - Langefeld, Carl D. A1 - Jacob, Chaim O. A1 - Kamboh, M. Ilyas A1 - Alarcón-Riquelme, Marta E. A1 - Tsao, Betty P. A1 - Moser, Kathy L. A1 - Gaffney, Patrick M. A1 - Harley, John B. A1 - Petri, Michelle A1 - Manzi, Susan A1 - Gregersen, Peter K. A1 - Behrens, Timothy W. A1 - Criswell, Lindsey A. Y1 - 2011/02/17 N2 - Author Summary Systemic lupus erythematosus is a chronic disabling autoimmune disease, most commonly striking women in their thirties or forties. It can cause a wide variety of clinical manifestations, including kidney disease, arthritis, and skin disorders. Prognosis varies greatly depending on these clinical features, with kidney disease and related characteristics leading to greater morbidity and mortality. It is also complex genetically; while lupus runs in families, genes increase one's risk for lupus but do not fully determine the outcome. The interactions of multiple genes and/or interactions between genes and environmental factors may cause lupus, but the causes and disease pathways of this very heterogeneous disease are not well understood. By examining relationships between the presence of multiple lupus risk genes, lupus susceptibility, and clinical manifestations, we hope to better understand how lupus is triggered and by what biological pathways it progresses. We show in this work that certain clinical manifestations of lupus are highly associated with cumulative genetic variations, i.e. multiple risk alleles, while others are associated with a single variation or none at all. JF - PLOS Genetics JA - PLOS Genetics VL - 7 IS - 2 UR - https://doi.org/10.1371/journal.pgen.1001311 SP - e1001311 EP - PB - Public Library of Science M3 - doi:10.1371/journal.pgen.1001311 ER -