Marta Martínez‐Bonet

High-throughput identification of functional regulatory SNPs in systemic lupus erythematosus

The paper identifies functional regulatory SNPs in SLE risk loci by testing their impact on transcription factor binding and gene expression.

Identification of a regulatory pathway governing TRAF1 via an arthritis-associated non-coding variant

The paper identifies a regulatory pathway involving rs7034653, FRA2, and TRAF1 that explains how a non-coding variant increases risk of inflammatory arthritis.

Non-coding autoimmune risk variant accelerates T peripheral helper cell development via ICOS

The paper identifies a non-coding variant that increases ICOS expression, leading to more T peripheral helper cells and contributing to autoimmune diseases.

Progression of recent Mycobacterium tuberculosis exposure to active tuberculosis is a highly heritable complex trait driven by 3q23 in Peruvians

The paper identifies a genetic variant on 3q23 associated with early progression from Mycobacterium tuberculosis exposure to active tuberculosis in Peruvians, showing higher heritability than general TB susceptibility.

Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci

This study fine-maps RA and T1D loci outside the MHC, identifying causal variants and confirming their functional impact through allele-specific binding and enhancer activity.