ArticleEuropean journal of human genetics : EJHG2015
Genome-wide scan identifies a copy number variable region at 3p21.1 that influences the TLR9 expression levels in IgA nephropathy patients.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Construction of LncRNA-miRNA-mRNA regulatory network in IgA nephropathy mice model by RNA-sequencing and bioinformatics analysis.Genes & genomics · 2025Article
- Genetics of IgA nephrology: risks, mechanisms, and therapeutic targets.Pediatric nephrology (Berlin, Germany) · 2024Review
- Review
- Omics are Getting Us Closer to Understanding IgA Nephropathy.Archivum immunologiae et therapiae experimentalis · 2023Review
- The Gut and Kidney Crosstalk in Immunoglobulin A Nephropathy.Kidney360 · 2022Review
- The Genetic Origin of Daunians and the Pan-Mediterranean Southern Italian Iron Age Context.Molecular biology and evolution · 2022Article
- Rare Collagenous Heterozygote Variants in Children With IgA Nephropathy.Kidney international reports · 2021Article
- High levels of gut-homing immunoglobulin A+ B lymphocytes support the pathogenic role of intestinal mucosal hyperresponsiveness in immunoglobulin A nephropathy patients.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Does the renal expression of Toll-like receptors play a role in patients with IgA nephropathy?Journal of nephrology · 2020Article
- A New Vision of IgA Nephropathy: The Missing Link.International journal of molecular sciences · 2019Review
- Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN).Frontiers in genetics · 2019Review
- Toll-Like Receptor 9 Stimulation Induces Aberrant Expression of a Proliferation-Inducing Ligand by Tonsillar Germinal Center B Cells in IgA Nephropathy.Journal of the American Society of Nephrology : JASN · 2017Article
- Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network.Journal of internal medicine · 2017Article
- Why, when and how should immunosuppressive therapy considered in patients with immunoglobulin A nephropathy?Clinical and experimental immunology · 2016Review
- IFI27 Is a Useful Genetic Marker for Diagnosis of Immunoglobulin A Nephropathy and Membranous Nephropathy Using Peripheral Blood.PloS one · 2016Article
- The Genetics of IgA Nephropathy: An Overview from Western Countries.Kidney diseases (Basel, Switzerland) · 2015Review
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
Immunoglobulin A nephropathy (IgAN) is a complex multifactorial disease characterized by genetic factors that influence the pathogenesis of the disease. In this context, an intriguing role could be ascribed to copy number variants (CNVs). We performed the whole-genome screening of CNVs in familial IgAN patients, their healthy relatives and healthy subjects (HSs). In the initial screening, we included 217 individuals consisting of 51 biopsy-proven familial IgAN cases and 166 healthy relatives. We identified 148 IgAN-specific aberrations, specifically 105 loss and 43 gain, using a new statistical approach that allowed us to identify aberrations that were concordant across multiple samples. Several CNVs overlapped with regions evidenced by previous genome-wide genetic studies. We focused our attention on a CNV located in chromosome 3, which contains the TLR9 gene and found that IgAN patients characterized by deteriorated renal function carried low copy number of this CNV. Moreover, the TLR9 gene expression was low and significantly correlated with the loss aberration. Conversely, IgAN patients with normal renal function had no aberration and the TLR9 mRNA was expressed at the same level as in HSs. We confirmed our data in another cohort of Greek subjects. In conclusion, here we performed the first genome-wide CNV study in IgAN identifying structural variants that could help the genetic dissection of this complex disease, and pointed out a loss aberration in the chromosome 3, which is responsible for the downregulation of TLR9 expression that, in turn, could contribute to the deterioration of the renal function in IgAN patients.
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