Javier J. Martin

Trans-eQTLs reveal the architecture of human gene regulatory networks

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

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

The paper identifies five SNPs in the DDX6-CXCR5 locus associated with autoimmune diseases and shows their functional effects on gene regulation in immune and epithelial cells.

Genome-wide DNA methylation study reveals specific signatures in the affected arterial tissue of giant cell arteritis patients

This study identifies DNA methylation signatures in GCA-affected arterial tissue, revealing disrupted inflammatory pathways and T cell exhaustion markers.

Exploration of the circulating human secretome through protein quantitative trait analysis identifies an association between circulating levels of apolipoprotein L1 and risk of giant cell arteritis

This paper identifies a protective association between apolipoprotein L1 polygenic risk scores and reduced risk of giant cell arteritis, supported by Mendelian randomization and pathway analysis.

The Lupus Epigenome Relates to Genetics, Transcription and Serological Profiles with Dependency on Molecular Subtypes and Informs Drug Discovery

This study identifies epigenetic differences in SLE linked to genetics, transcription, and serology, revealing novel drug targets and pathways.

Trans-ancestry genome-wide association study identifies novel genetic mechanisms in rheumatoid arthritis

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.

An integrative multi-omics approach in Sjogrens Syndrome identifies novel genetic drivers with regulatory function and disease-specificity

This study identifies novel genetic drivers in Sjogrens Syndrome through an integrative multi-omics approach, revealing epigenetic signatures and regulatory variants associated with the disease.

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.

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.