학술논문
Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups
Document Type
article
Author
Kaufman, Kenneth M; Zhao, Jian; Kelly, Jennifer A; Hughes, Travis; Adler, Adam; Sanchez, Elena; Ojwang, Joshua O; Langefeld, Carl D; Ziegler, Julie T; Williams, Adrienne H; Comeau, Mary E; Marion, Miranda C; Glenn, Stuart B; Cantor, Rita M; Grossman, Jennifer M; Hahn, Bevra H; Song, Yeong Wook; Yu, Chack-Yung; James, Judith A; Guthridge, Joel M; Brown, Elizabeth E; Alarcón, Graciela S; Kimberly, Robert P; Edberg, Jeffrey C; Ramsey-Goldman, Rosalind; Petri, Michelle A; Reveille, John D; Vilá, Luis M; Anaya, Juan-Manuel; Boackle, Susan A; Stevens, Anne M; Freedman, Barry I; Criswell, Lindsey A; Group, Bernardo A Pons-Estel on behalf of the Argentine Collaborative; Lee, Joo-Hyun; Lee, Ji-Seon; Chang, Deh-Ming; Scofield, R Hal A; Gilkeson, Gary S; Merrill, Joan T; Niewold, Timothy B; Vyse, Timothy James; Bae, Sang-Cheol; network, Marta E Alarcón-Riquelme on behalf of the BIOLUPUS; Jacob, Chaim O; Sivils, Kathy Moser; Gaffney, Patrick M; Harley, John B; Sawalha, Amr H; Tsao, Betty P
Source
Annals of the Rheumatic Diseases. 72(3)
Subject
Language
Abstract
ObjectivesThe Xq28 region containing IRAK1 and MECP2 has been identified as a risk locus for systemic lupus erythematosus (SLE) in previous genetic association studies. However, due to the strong linkage disequilibrium between IRAK1 and MECP2, it remains unclear which gene is affected by the underlying causal variant(s) conferring risk of SLE.MethodsWe fine-mapped ≥136 SNPs in a ∼227 kb region on Xq28, containing IRAK1, MECP2 and seven adjacent genes (L1CAM, AVPR2, ARHGAP4, NAA10, RENBP, HCFC1 and TMEM187), for association with SLE in 15 783 case-control subjects derived from four different ancestral groups.ResultsMultiple SNPs showed strong association with SLE in European Americans, Asians and Hispanics at p