CCL genes in multiple sclerosis and systemic lupus erythematosus

Vyshkina, Tamara; Sylvester, Andrew; Sadiq, Saud; Bonilla, Eduardo; Perl, András; Kálmán, Bernadette

doi:10.1016/j.jneuroim.2008.05.016

Cited by 23 publications

(11 citation statements)

References 45 publications

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“…Normal controls: Buccal swab specimens of 466 Caucasian healthy controls were obtained from staff members, spouses of MS patients and constructors working at the MSRCNY, New York. Specimens from these patients and controls were included in a parallel study [12]. …”

Section: Methodsmentioning

confidence: 99%

Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus

Vyshkina¹,

Sylvester²,

Sadiq³

et al. 2008

Clinical Immunology

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Mitochondrial dysfunction has been implicated in the pathogenesis of multiple sclerosis (MS) and systemic lupus erythematosus (SLE). This study re-investigates the roles of previously suggested candidate genes of energy metabolism (Complex I genes located in the nucleus and in the mitochondria) in patients with MS relative to ethnically matched SLE patients and healthy controls. After stringent correction for multiple testing, we reproduce the association of the mitochondrial (mt) DNA haplotype K* with MS, but reject the importance of previously suggested borderline associations with nuclear genes of Complex I. In addition, we detect the association of common variants of the mitochondrial ND2 and ATP6 genes with both MS and SLE, which raises the possibility of a shared mitochondrial genetic background of these two autoimmune diseases.

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Section: Methodsmentioning

confidence: 99%

Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus

Vyshkina¹,

Sylvester²,

Sadiq³

et al. 2008

Clinical Immunology

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“…Although a direct relationship between the genetic polymorphisms of CC chemokine genes and risk of NHL have never been reported, genetic variations in these genes have been associated with risk of HIV-1 infection and autoimmune disorders (3–6), which are established risk factors for NHL (7). …”

Section: Introductionmentioning

confidence: 99%

Single-Nucleotide Polymorphisms in Genes Encoding for CC Chemokines were Not Associated with the Risk of Non-Hodgkin Lymphoma

Chen

Zheng

Lan

et al. 2013

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background Chemokines play a pivotal role in immune regulation and response, and previous studies suggest an association between immune deficiency and Non-Hodgkin lymphoma (NHL). Methods We evaluated the association between NHL and polymorphisms in 18 genes (CCL1, CCL2, CCL5, CCL7, CCL8, CCL11, CCL13, CCL18, CCL20, CCL24, CCL26, CCR1, CCR3, CCR4, CCR6, CCR7, CCR8 and CCR9) encoding for the CC chemokines using data from a population-based case-control study of NHL conducted in Connecticut women. Results CCR8 was associated with diffuse large B-cell lymphoma (DLBCL) (p = 0.012) and CCL13 was associated with chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL/SLL) (p = 0.003) at gene level. After adjustment for multiple comparisons, none of the genes or SNPs were associated with risk of overall NHL or NHL subtypes. Conclusions Our results suggest that the genes encoding for CC chemokines are not significantly associated with the risk of NHL, and further studies are needed to verify these findings. Impact Our data indicate that CC chemokine genes were not associated with NHL risk.

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“…27 The chemokine genes have also been included in linkage and association studies, [28][29][30][31] but despite substantial evidence for linkage and association to this chemokine cluster, data lack conclusive replication. 32 In this study, we refine the Eae18b locus to a 0.88 Mb region containing the chemokine gene cluster and show that the expression of chemokines Ccl2, Ccl11 and Ccl1 is regulated by the locus. We further present evidence for association of CCL2, CCL1 and CCL13 in a large Nordic MS material, including a possible modulatory effect from the human leukocyte antigen (HLA)-DR1*15 locus.…”

Section: Il7rmentioning

confidence: 81%

“…Genetic polymorphisms in the homologous region on human chromosome 17 have been studied for involvement in MS susceptibility, [29][30][31][32] as well as other autoimmune or chronic inflammatory diseases including RA, 60 myocardial infarction 66,67 and allergy. 68 A second cluster including chemokine genes (CCL5, CCL16, CCL14, CCL15, CCL23, CCL18, CCL3 and CCL4) located further upstream has also been studied in relation to MS, but in this study we have focused on the centromeric cluster, as this was identified in the rat linkage study.…”

Section: Discussionmentioning

confidence: 99%

Genetic variants of CC chemokine genes in experimental autoimmune encephalomyelitis, multiple sclerosis and rheumatoid arthritis

et al. 2009

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Multiple sclerosis (MS) is a complex disorder of the central nervous system, causing inflammation, demyelination and axonal damage. A limited number of genetic risk factors for MS have been identified, but the etiology of the disease remains largely unknown. For the identification of genes regulating neuroinflammation we used a rat model of MS, myelin oligodendrocyte glycoprotein (MOG)-induced experimental autoimmune encephalomyelitis (EAE), and carried out a linkage analysis in an advanced intercross line (AIL). We thereby redefine the Eae18b locus to a 0.88 Mb region, including a cluster of chemokine genes. Further, we show differential expression of Ccl2, Ccl11 and Ccl11 during EAE in rat strains with opposite susceptibility to EAE, regulated by genotype in Eae18b. The human homologous genes were tested for association to MS in 3841 cases and 4046 controls from four Nordic countries. A haplotype in CCL2 and rs3136682 in CCL1 show a protective association to MS, whereas a haplotype in CCL13 is disease predisposing. In the HLA-DRB1*15 positive subgroup, we also identified an association to a risk haplotype in CCL2, suggesting an influence from the human leukocyte antigen (HLA) locus. We further identified association to rheumatoid arthritis in CCL2, CCL8 and CCL13, indicating common regulatory mechanisms for complex diseases.

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CCL genes in multiple sclerosis and systemic lupus erythematosus

Cited by 23 publications

References 45 publications

Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus

Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus

Single-Nucleotide Polymorphisms in Genes Encoding for CC Chemokines were Not Associated with the Risk of Non-Hodgkin Lymphoma

Genetic variants of CC chemokine genes in experimental autoimmune encephalomyelitis, multiple sclerosis and rheumatoid arthritis

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