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Pubmed ID :29912393
Publication Date : //

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.


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. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341. In B cell lines from patients with lupus and healthy controls, the lupus risk allele of rs11889341 was associated with increased STAT1 expression. We demonstrated that the transcription factor HMGA1, a member of the HMG transcription factor family with an AT-hook DNA-binding domain, has enriched binding to the risk allele compared to the non-risk allele of rs11889341. We identified a genotype-dependent repressive element in the DNA within the intron of STAT4 surrounding rs11889341. Consistent with expression quantitative trait locus (eQTL) analysis, the lupus risk allele of rs11889341 decreased the activity of this putative repressor. Altogether, we present a plausible molecular mechanism for increased lupus risk at the STAT1-STAT4 locus in which the risk allele of rs11889341, the most probable causal variant, leads to elevated STAT1 expression in B cells due to decreased repressor activity mediated by increased binding of HMGA1.

Authors : Patel Zubin , 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 ,

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