ArticleBiology of sex differences2017
Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms.
Article in Biology of sex differences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.Annals of the rheumatic diseases · 2025Pooled it
- Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts.Scientific reports · 2023Pooled it
- Variants in BANK1 are associated with lupus nephritis of European ancestry.Genes and immunity · 2021Pooled it
- Dynamic neuro-immune regulation of psychiatric risk loci in human neurons.Nature communications · 2026Article
- Article
- Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.Human mutation · 2026Review
- Tlr9 expression protects against Tlr7-dependent exocrine gland and systemic disease manifestations in primary Sjögren's disease in a sex-biased manner.Journal of autoimmunity · 2025Article
- Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases.Scientific reports · 2025Article
- Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies.Nature reviews. Rheumatology · 2023Review
- Several genetic variants associated with systemic sclerosis in a Chinese Han population.Clinical rheumatology · 2023Article
- Sex-specific differences in primary Sjögren's disease.Frontiers in dental medicine · 2023Review
- Modeling of horizontal pleiotropy identifies possible causal gene expression in systemic lupus erythematosus.Frontiers in lupus · 2023Article
- Single Nucleotide Polymorphism rs6445975 in theIranian journal of public health · 2022Article
- Review
- Sex differences in the genetic regulation of the blood transcriptome response to glucocorticoid receptor activation.Translational psychiatry · 2021Article
- N6-methyladenosine (m6A) RNA methylation regulator SNRPC is a prognostic biomarker and is correlated with immunotherapy in hepatocellular carcinoma.World journal of surgical oncology · 2021Article
- SNRPC promotes hepatocellular carcinoma cell motility by inducing epithelial-mesenchymal transition.FEBS open bio · 2021Article
- Immune cell infiltration characteristics and related core genes in lupus nephritis: results from bioinformatic analysis.BMC immunology · 2019Article
- SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.Human genomics · 2019Review
- The role of sex in the genomics of human complex traits.Nature reviews. Genetics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSystemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) are autoimmune disorders characterized by autoantibodies, dysregulated B cells, and notably high female-to-male incidence ratios. Genome-wide association studies have identified several susceptibility SNPs for both diseases. Many SNPs in the genome are expression quantitative trait loci (eQTLs), with context-dependent effects. Assuming that sex is a biological context, we investigated whether SLE/pSS SNPs act as eQTLs in B cells and used a disease-targeted approach to understand if they display sex-specific effects.
methodsWe used genome-wide genotype and gene expression data from primary B cells from 125 males and 162 females. The MatrixEQTL R package was used to identify eQTLs within a genomic window of 2 Mb centered on each of 22 established SLE and/or pSS susceptibility SNPs. To find sex-specific eQTLs, we used a linear model with a SNP * sex interaction term.
resultsWe found ten SNPs affecting the expression of 16 different genes (FDR < 0.05). rs7574865-INPP1, rs7574865-MYO1B, rs4938573-CD3D, rs11755393-SNRPC, and rs4963128-PHRF1 were novel observations for the immune compartment and B cells. By analyzing the SNP * sex interaction terms, we identified six genes with differentially regulated expression in females compared to males, depending on the genotype of SLE/pSS-associated SNPs: SLC39A8 (BANK1 locus), CD74 (TNIP1 locus), PXK, CTSB (BLK/FAM167A locus), ARCN1 (CXCR5 locus), and DHX9 (NCF2 locus).
conclusionsWe identified several unknown sex-specific eQTL effects of SLE/pSS-associated genetic polymorphisms and provide novel insight into how gene-sex interactions may contribute to the sex bias in systemic autoimmune diseases.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.