ArticleClinical and experimental immunology2012
X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma.
Article in Clinical and experimental immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- p53-Dependent ENOX2 Downregulation Mediates the Apoptotic Responses to Heteroarene-Fused Anthraquinones in Colon Cancer Cells.Biomolecules · 2026Article
- Mechanisms of fibrotic tissue remodelling: insights from systemic sclerosis.Nature reviews. Rheumatology · 2026Review
- The Impact of Menopause on Autoimmune and Rheumatic Diseases.Clinical reviews in allergy & immunology · 2025Review
- Sex differences in systemic sclerosis: from pathogenesis to clinical manifestations and treatment.Therapeutic advances in musculoskeletal disease · 2025Review
- Current Concepts on the Pathogenesis of Systemic Sclerosis.Clinical reviews in allergy & immunology · 2023Review
- Distinct genome-wide DNA methylation and gene expression signatures in classical monocytes from African American patients with systemic sclerosis.Clinical epigenetics · 2023Article
- DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.International journal of molecular sciences · 2022Review
- Differential DNA Methylation Landscape in Skin Fibroblasts from African Americans with Systemic Sclerosis.Genes · 2021Article
- The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview.Therapeutic advances in musculoskeletal disease · 2020Review
- Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis.BMC medical genomics · 2019Article
- Epigenetics of scleroderma: Integrating genetic, ethnic, age, and environmental effects.Journal of scleroderma and related disorders · 2019Review
- Sex and autoimmune disease: Four mechanisms pointing at women.Mediterranean journal of rheumatology · 2019Review
- Uncovering the assembly pathway of human ribosomes and its emerging links to disease.The EMBO journal · 2019Review
- Integrative analysis of DNA methylation in discordant twins unveils distinct architectures of systemic sclerosis subsets.Clinical epigenetics · 2019Article
- Immunopathogenesis of Juvenile Systemic Sclerosis.Frontiers in immunology · 2019Review
- Nailfold videocapillaroscopy and serum VEGF levels in scleroderma are associated with internal organ involvement.Auto- immunity highlights · 2016Article
- The sex bias in systemic sclerosis: on the possible mechanisms underlying the female disease preponderance.Clinical reviews in allergy & immunology · 2014Review
- The role of genetics and epigenetics in the pathogenesis of systemic sclerosis.Nature reviews. Rheumatology · 2014Review
- Emerging role of epigenetics in systemic sclerosis pathogenesis.Genes and immunity · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Scleroderma (SSc) is a rare connective tissue disease characterized by fibrosis, microvasculopathy and autoimmune features. The role of genetics is limited in SSc, as suggested by similar concordance rates in monozygotic and dizygotic twin pairs, while environmental factors may act through epigenetic changes, as demonstrated for specific genes. Further, sex chromosome changes have been reported in SSc and may explain the female preponderance. In the present study we compared the methylation profile of all X chromosome genes in peripheral blood mononuclear cells from monozygotic twins discordant (n=7) and concordant (n=1) for SSc. Methylated DNA immunoprecipitations from each discordant twin pair were hybridized to a custom-designed array included 998 sites encompassing promoters of all X chromosome genes and randomly chosen autosomal genes. Biostatistical tools identified sites with an elevated probability to be consistently hypermethylated (n=18) or hypomethylated (n=25) in affected twins. Identified genes include transcription factors (ARX, HSFX1, ZBED1, ZNF41) and surface antigens (IL1RAPL2, PGRMC1), and pathway analysis suggests their involvement in cell proliferation (PGK1, SMS, UTP14A, SSR4), apoptosis (MTM1), inflammation (ARAF) and oxidative stress (ENOX2). In conclusion, we propose that X chromosome genes with different methylation profiles in monozygotic twin pairs may constitute candidates for SSc susceptibility.
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What OpenQuestion 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 OpenQuestion graph.