Article
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
Human molecular genetics - 1 Jul 2018
Patel Zubin H, Lu Xiaoming, Miller Daniel, Forney Carmy R, Lee Joshua, Lynch Arthur, Schroeder Connor, Parks Lois, Magnusen Albert F, Chen Xiaoting, Pujato Mario, Maddox Avery, Zoller Erin E, Namjou Bahram, Brunner Hermine I, Henrickson Michael, Huggins Jennifer L, Williams Adrienne H, Ziegler Julie T, Comeau Mary E, Marion Miranda C, Glenn Stuart B, Adler Adam, Shen Nan, Nath Swapan K, Stevens Anne M, Freedman Barry I, Pons-Estel Bernardo A, Tsao Betty P, Jacob Chaim O, Kamen Diane L, Brown Elizabeth E, Gilkeson Gary S, Alarcón Graciela S, Martin Javier, Reveille John D, Anaya Juan-Manuel, James Judith A, Sivils Kathy L, Criswell Lindsey A, Vilá Luis M, Petri Michelle, Scofield R Hal, Kimberly Robert P, Edberg Jeffrey C, Ramsey-Goldman Rosalind, Bang So-Young, Lee Hye-Soon, Bae Sang-Cheol, Boackle Susan A, Cunninghame Graham Deborah, Vyse Timothy J, Merrill Joan T, Niewold Timothy B, Ainsworth Hannah C, Silverman Earl D, Weisman Michael H, Wallace Daniel J, Raj Prithvi, Guthridge Joel M, Gaffney Patrick M, Kelly Jennifer A, Alarcón-Riquelme Marta E, Langefeld Carl D, Wakeland Edward K, Kaufman Kenneth M, Weirauch Matthew T, Harley John B, Kottyan Leah C
Abstract excerpt
Systemic lupus erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk....
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