Sara Magnusson Bucher

A proteomic profile correlates with salivary gland inflammation and disease-associated antibodies in Sjögren’s disease

Albin Björk, Johannes Mofors, Lauro Meneghel, Marika Kvarnström et autres

OBJECTIVES: To identify serum and salivary gland proteomic biomarkers in primary Sjögren's disease (SjD), evaluate their correlation with tissue inflammation, and relate findings to clinical, autoantibody, and genetic profiles. METHODS: Paired salivary gland extracts and serum samples from patients with SjD (n …

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Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

Mandi M. Wiley, Marcin Radziszewski, Bhuwan Khatri, Michelle L. Joachims et autres

OBJECTIVES: Sjögren's disease (SjD) and systemic lupus erythematosus (SLE) share genetic risk at the DDX6-CXCR5 locus (11q23.3). Identifying and functionally characterising shared SNPs spanning this locus can provide new insights into common genetic mechanisms of autoimmunity. METHODS: Transdisease meta-analyses, fine-mapping, and bioinformatic …

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Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

Wiley MM, M. Radziszewski, Khatri Chandra B, Michelle L. Joachims et autres

A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren’s disease

Cecilia Fugmann, Sarah Reid, Pascal Pucholt, Marika Kvarnström et autres

OBJECTIVES: To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sjögren's disease (SjD) with genome-wide significance and determine the genetic risk for SjD stratified by antibodies, sex and age at diagnosis. METHODS: Patients with …

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Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases

Matteo Bianchi, Sergey V. Kozyrev, Antonella Notarnicola, Johanna K. Sandling et autres

OBJECTIVE: Systemic inflammatory autoimmune diseases (SIADs) such as systemic lupus erythematosus (SLE), primary Sjögren disease (pSS), and idiopathic inflammatory myopathies (myositis) are complex conditions characterized by shared circulating autoantibodies and clinical manifestations, including skin rashes, among others. This study was aimed at …

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OP0141 EXPLORING REGULATORY DYNAMICS: FUNCTIONAL SNPS IN THE PRDM1-ATG5 LOCUS IMPLICATED IN SYSTEMIC LUPUS ERYTHEMATOSUS AND SJÖGREN’S DISEASE

M. Radziszewski, Mandi M. Wiley, B. Khatri, A. Rasmussen et autres

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OP0113 GENOME-WIDE ASSOCIATION STUDY OF Ro/SSA+ AND Ro/SSA-SJÖGREN’S CASES IN THE SJÖGREN’S GENETIC NETWORK (SGENE) DEMONSTRATES DIVERGENT GENETIC ARCHITECTURE IN PATIENT SUBPHENOTYPES

Astrid Rasmussen, M. Radziszewski, Bhuwan Khatri, Kandice L. Tessneer et autres

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OP0179 DISEASE ASSOCIATED AUTOANTIBODIES ARE LINKED TO GRADUAL PROTEOMIC CHANGES IN PRIMARY SJÖGREN’S SYNDROME

A. Björk, Johannes Mofors, Lauro Meneghel, Marika Kvarnström et autres

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Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

Mandi M. Wiley, Bhuwan Khatri, Michelle L. Joachims, Kandice L. Tessneer et autres

ABSTRACT Fine mapping and bioinformatic analysis of the DDX6-CXCR5 genetic risk association in Sjögren’s Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein …

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Author Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Bhuwan Khatri, Kandice L. Tessneer, Astrid Rasmussen, Farhang F. Aghakhanian et autres

The original version of this Article contained an error in Fig. 3, in which the case and control colors were swapped in panels c and f. The correct version of Fig. 3 is:

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Author Correction: Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Bhuwan Khatri, Kandice L. Tessneer, Astrid Rasmussen, Farhang F. Aghakhanian et autres

In this article the funding from ‘FOREUM Foundation for Research in Rheumatology’ was omitted. The original article has been corrected.

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Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Bhuwan Khatri, Kandice L. Tessneer, Astrid Rasmussen, Farhang F. Aghakhanian et autres

Sjögren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk …

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