Investigation of the eotaxin gene −426C→T, −384A→G and 67G→A single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methods

Rigoli, Luciana; Caminiti, Lucia; Bella, Chiara Di; Procopio, V.; Cuppari, Caterina; Vita, Daniela De; Barberio, G; Salpietro, Carmelo; Pajno, Giovanni Battista

doi:10.1111/j.1365-2230.2007.02672.x

Cited by 13 publications

(9 citation statements)

References 22 publications

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“…Batra et al 15 found both a significant relationship between eotaxin‐1 +67 G>A genotype and asthma and a correlation between mutant genotype and plasma eotaxin level. However, other studies did not support these findings 7,16 , 18 . The present study failed to show an association between eotaxin‐1 +67 G>A genotypes and NP.…”

Section: Discussioncontrasting

confidence: 95%

Lack of Association between Eotaxin‐1 Gene Polymorphisms and Nasal Polyposis

Ekinci¹,

Erbek²,

Yurtçu³

et al. 2011

Otolaryngol.--head neck surg.

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Section: Discussioncontrasting

confidence: 95%

Lack of Association between Eotaxin‐1 Gene Polymorphisms and Nasal Polyposis

Ekinci¹,

Erbek²,

Yurtçu³

et al. 2011

Otolaryngol.--head neck surg.

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“…Given the report that SNP rs111568837 in the promoter of CCL11 correlated with the incidence of atopic dermatitis in an Italian cohort [ 15 ], we investigated whether rs111568837 also was associated with FM. However, the transmission of this SNP from parents to probands was not statistically significant ( S2 Table ) .…”

Section: Resultsmentioning

confidence: 99%

“…In a previous study [ 12 ], we showed that several inflammatory chemokines were elevated in FM, including CCL11 and CCL4, genes located in a chemokine gene cluster on chromosome 17. This chemokine locus is associated with atopic dermatitis [ 15 ] and IBD [ 16 ], both immune-related disorders. As a follow-up to the GWAS FM family study on chromosome 17 [ 6 ], we performed functional studies on the chemokine gene-cluster region on chromosome 17 by exome sequence and functional analyses.…”

Section: Introductionmentioning

confidence: 99%

SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study

et al. 2018

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BackgroundFibromyalgia (FM) is a chronic pain syndrome with a high incidence in females that may involve activation of the immune system. We performed exome sequencing on chemokine genes in a region of chromosome 17 identified in a genome-wide family association study.Methods and findingsExome sequence analysis of 100 FM probands was performed at 17p13.3-q25 followed by functional analysis of SNPs found in the chemokine gene locus. Missense SNPs (413) in 17p13.3-q25 were observed in at least 10 probands. SNPs rs1129844 in CCL11 and rs1719152 in CCL4 were associated with elevated plasma chemokine levels in FM. In a transmission disequilibrium test (TDT), rs1129844 was unequally transmitted from parents to their affected children (p< 0.0074), while the CCL4 SNP was not. The amino acid change (Ala23Thr), resulting from rs1129844 in CCL11, predicted to alter processing of the signal peptide, led to reduced expression of CCL11. The variant protein from CCL4 rs1719152 exhibited protein aggregation and a potent down-regulation of its cognate receptor CCR5, a receptor associated with hypotensive effects. Treatment of skeletal muscle cells with CCL11 produced high levels of CCL4 suggesting CCL11 regulates CCL4 in muscle. The immune association of FM with SNPs in MEFV, a chromosome 16 gene associated with recurrent fevers, had a p< 0.008 TDT for a combined 220 trios.ConclusionsSNPs with significant TDTs were found in 36% of the cohort for CCL11 and 12% for MEFV, along with a protein variant in CCL4 (41%) that affects CCR5 down-regulation, supporting an immune involvement for FM.

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“…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. Through meta-analysis of several MS cohorts from Nordic countries we could collect a large number of MS patients and controls from a relatively homogenous population and thereby identify association to haplotypes in CCL2 and CCL13, and a single marker in CCL1.…”

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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Investigation of the eotaxin gene −426C→T, −384A→G and 67G→A single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methods

Abstract: Our results suggest that in our group of children with AD, the eotaxin gene may play a crucial role in the development of extrinsic AD, probably with other genetic factors.

Cited by 13 publications

References 22 publications

Lack of Association between Eotaxin‐1 Gene Polymorphisms and Nasal Polyposis

Lack of Association between Eotaxin‐1 Gene Polymorphisms and Nasal Polyposis

SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study

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

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