Article
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
American journal of human genetics - 3 Apr 2014
Guthridge Joel M, Lu Rufei, Sun Harry, Sun Celi, Wiley Graham B, Dominguez Nicolas, Macwana Susan R, Lessard Christopher J, Kim-Howard Xana, Cobb Beth L, Kaufman Kenneth M, Kelly Jennifer A, Langefeld Carl D, Adler Adam J, Harley Isaac T W, Merrill Joan T, Gilkeson Gary S, Kamen Diane L, Niewold Timothy B, Brown Elizabeth E, Edberg Jeffery C, Petri Michelle A, Ramsey-Goldman Rosalind, Reveille John D, Vilá Luis M, Kimberly Robert P, Freedman Barry I, Stevens Anne M, Boackle Susan A, Criswell Lindsey A, Vyse Tim J, Behrens Timothy W, Jacob Chaim O, Alarcón-Riquelme Marta E, Sivils Kathy L, Choi Jiyoung, Joo Young Bin, Bang So-Young, Lee Hye-Soon, Bae Sang-Cheol, Shen Nan, Qian Xiaoxia, Tsao Betty P, Scofield R Hal, Harley John B, Webb Carol F, Wakeland Edward K, James Judith A, Nath Swapan K, Graham Robert R, Gaffney Patrick M
Abstract excerpt
Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with...
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