Title
Lupus risk variant increases pSTAT1 binding and decreases ETS1 expression
Date Issued
07 May 2015
Access level
open access
Resource Type
journal article
Author(s)
Lu X.
Zoller E.E.
Weirauch M.T.
Wu Z.
Namjou B.
Williams A.H.
Ziegler J.T.
Comeau M.E.
Marion M.C.
Glenn S.B.
Adler A.
Shen N.
Nath S.K.
Stevens A.M.
Freedman B.I.
Tsao B.P.
Jacob C.O.
Kamen D.L.
Brown E.E.
Gilkeson G.S.
Reveille J.D.
Anaya J.M.
James J.A.
Sivils K.L.
Criswell L.A.
Vilá L.M.
Alarcón-Riquelme M.E.
Petri M.
Scofield R.H.
Kimberly R.P.
Ramsey-Goldman R.
Joo Y.B.
Choi J.
Bae S.C.
Boackle S.A.
Graham D.C.
Vyse T.J.
Guthridge J.M.
Gaffney P.M.
Langefeld C.D.
Kelly J.A.
Greis K.D.
Kaufman K.M.
Harley J.B.
Kottyan L.C.
University of Alabama at Birmingham
Publisher(s)
Cell Press
Abstract
Genetic variants at chromosomal region 11q23.3, near the gene ETS1, have been associated with systemic lupus erythematosus (SLE), or lupus, in independent cohorts of Asian ancestry. Several recent studies have implicated ETS1 as a critical driver of immune cell function and differentiation, and mice deficient in ETS1 develop an SLE-like autoimmunity. We performed a fine-mapping study of 14,551 subjects from multi-ancestral cohorts by starting with genotyped variants and imputing to all common variants spanning ETS1. By constructing genetic models via frequentist and Bayesian association methods, we identified 16 variants that are statistically likely to be causal. We functionally assessed each of these variants on the basis of their likelihood of affecting transcription factor binding, miRNA binding, or chromatin state. Of the four variants that we experimentally examined, only rs6590330 differentially binds lysate from B cells. Using mass spectrometry, we found more binding of the transcription factor signal transducer and activator of transcription 1 (STAT1) to DNA near the risk allele of rs6590330 than near the non-risk allele. Immunoblot analysis and chromatin immunoprecipitation of pSTAT1 in B cells heterozygous for rs6590330 confirmed that the risk allele increased binding to the active form of STAT1. Analysis with expression quantitative trait loci indicated that the risk allele of rs6590330 is associated with decreased ETS1 expression in Han Chinese, but not other ancestral cohorts. We propose a model in which the risk allele of rs6590330 is associated with decreased ETS1 expression and increases SLE risk by enhancing the binding of pSTAT1.
Start page
731
End page
739
Volume
96
Issue
5
Language
English
OCDE Knowledge area
Genética humana Reumatología
Scopus EID
2-s2.0-84929276935
PubMed ID
Source
American Journal of Human Genetics
ISSN of the container
00029297
Sponsor(s)
We are grateful for support from the NIH (AI024717, AI063274, AI082714, AI083194, AR043274, AR043727, AR043814, AR051545, AR053483, AR056360, AR057172, AR058959, AR060366, AR063124, AR065626, AR62277, GM103456, GM104938, HG006828, K24AI078004, K24AR02318, MD007909, P01AR49084, P30AR053483, P30AR055385, P30GM103510, P60AR053308, P60AR062755, P60AR064464, R01AR44804, R21AI070304, S10RR027015, TR000077, U01AI101934, U01HG006828, U19AI082714, U54GM104938, UL1RR029882, UL1TR000004, and UL1TR000150). Support for this project was also provided by the United States Departments of Veteran Affairs and Defense (PR094002), a Kirkland Scholar Award, the National Basic Research Program of China (973 program, 2014CB541901), the National Natural Science Foundation of China (81230072 and 81421001), the State Key Laboratory of Oncogenes and Related Genes (grant 91-14-05), the Key Research Program of the Chinese Academy of Sciences (KJZD-EW-L01-3), the Program of the Shanghai Commission of Science and Technology (12JC1406000 and 12431900703), the Instituto de Salud Carlos III (partly financed by Fonds Européen de Développement Régional funds from the European Union [02558]), the Proyecto de Excelencia of the Junta de Andalucía (CTS2548), the Arthritis Foundation, the Alliance for Lupus Research, and the Korea Healthcare Technology R&D Project of the Ministry for Health and Welfare, Republic of Korea (HI13C2124).
Sources of information: Directorio de Producción Científica Scopus