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Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21 by Travis Hughes; Xana Kim-Howard; Jennifer A. Kelly; Kenneth M. Kaufman; Carl D. Langefeld; Julie Ziegler; Elena Sanchez; Robert P. Kimberly; Jeffrey C. Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D. Reveille; Javier Martín; Elizabeth E. Brown; Luis M. Vilá; Graciela S. Alarcón; Judith A. James; Gary S. Gilkeson; Kathy L. Moser; Patrick M. Gaffney; Joan T. Merrill; Timothy J. Vyse; Marta E. Alarcón-Riquelme; Swapan K. Nath; John B. Harley; Amr H. Sawalha; BIOLUPUS Network is a Medicine article available to read on EtoBox.

What is Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21 about?

Objective. Genetic association of the IL2/IL21 region at chromosome 4q27 has previously been reported in lupus and a number of autoimmune and inflammatory diseases. This study was undertaken to determine whether this genetic effect could be localized, using a very large cohort of lupus patients and controls. Methods. We genotyped 45 tag single-nucleotide polymorphisms (SNPs) across the IL2/IL21 locus in 2 large independent lupus sample sets. We studied a set of subjects of European descent consisting of 4,248 lupus patients and 3,818 healthy controls, and an African American set of 1,569 patients and 1,893 healthy controls. Imputation in 3,004 additional controls from the Wellcome Trust Case Control Consortium was also performed. Genetic association between the genotyped markers was determined, and pairwise conditional analysis was performed to localize the independent genetic effect in the IL2/IL21 locus in lupus. Results. We established and confirmed the genetic association between IL2/IL21 and lupus. Using conditional analysis and transethnic mapping, we localized the genetic effect in this locus to 2 SNPs in high linkage disequilibrium: rs907715 located within IL21

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Author

Travis Hughes; Xana Kim-Howard; Jennifer A. Kelly; Kenneth M. Kaufman; Carl D. Langefeld; Julie Ziegler; Elena Sanchez; Robert P. Kimberly; Jeffrey C. Edberg; Rosalind Ramsey-Goldman; Michelle Petri; John D. Reveille; Javier Martín; Elizabeth E. Brown; Luis M. Vilá; Graciela S. Alarcón; Judith A. James; Gary S. Gilkeson; Kathy L. Moser; Patrick M. Gaffney; Joan T. Merrill; Timothy J. Vyse; Marta E. Alarcón-Riquelme; Swapan K. Nath; John B. Harley; Amr H. Sawalha; BIOLUPUS Network

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0004-3591)

Published

2011

Language

EN

Field

Medicine (Health Sciences)