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Published on: February 8, 2019
MCP-1 gene haplotype association in biopsy proven giant cell arteritis
Mahsa M Amoli1, Fiona Salway, Eleftheria Zeggini
1Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, the University of Manchester, Manchester, UK.
Insights
Genetic variations in the monocyte chemoattractant protein 1 (MCP-1) gene, specifically certain haplotypes, were found to be significantly associated with an increased risk of giant cell arteritis (GCA). This suggests MCP-1 plays a role in GCA susceptibility.
Area of Science:
- Immunogenetics
- Rheumatology
- Molecular Biology
Background:
- Giant cell arteritis (GCA) is a prevalent vasculitis in Western populations.
- Increased monocyte chemoattractant protein 1 (MCP-1) expression is noted in GCA patients and other inflammatory conditions.
- MCP-1 gene polymorphisms are implicated in susceptibility to immune and inflammatory diseases.
Purpose of the Study:
- To investigate the clinical implications of MCP-1 gene polymorphisms in GCA.
- To examine the association between specific MCP-1 single nucleotide polymorphisms (SNPs) and GCA susceptibility in a Spanish cohort.
Main Methods:
- Genotyping of 79 biopsy-proven GCA patients and 99 controls for three MCP-1 SNPs (rs2857657, rs4586, rs139000).
- Analysis of allele, genotype, and haplotype frequencies between GCA cases and controls.
- Statistical analysis using chi-square tests to determine significant associations.
Main Results:
- No significant differences in individual MCP-1 allele or genotype distributions were observed between GCA patients and controls.
- A significant difference in overall MCP-1 haplotype frequencies was detected between the two groups (p = 0.005).
- Haplotypes C-C (p = 0.03) and T-T (p = 0.005) were significantly overrepresented in GCA patients, indicating increased risk.
Conclusions:
- The study suggests a potential role for the MCP-1 gene in GCA susceptibility.
- Significant associations found in haplotype frequencies indicate a genetic contribution of MCP-1 to GCA development.
- Further research is warranted to elucidate the specific mechanisms linking MCP-1 haplotypes to GCA pathogenesis.
Objective:
Giant cell arteritis (GCA) is the most frequent vasculitis in European and North American countries. Increased expression of monocyte chemoattractant protein 1 (MCP-1) has been observed within the inflammatory infiltrates of blood vessels and serum of patients with GCA and in other autoimmune and inflammatory conditions. MCP-1 gene polymorphisms have been reported to contribute to susceptibility to several immune and inflammatory conditions. To investigate the clinical implication of MCP-1 polymorphisms in GCA, we examined the association of 3 single nucleotide polymorphisms (SNP) in a series of patients with GCA from Northwest Spain.
Methods:
Seventy-nine patients with biopsy proven GCA and 99 ethnically matched controls were studied. Patients and controls were genotyped for MCP-1 polymorphisms. SNP included in this study (rs2857657, rs4586, rs139000) were located in intron 1(G/C), exon 2(T/C), and 3'UTR(C/T) region of MCP-1 gene.
Results:
The distribution of the alleles and genotypes for each MCP-1 polymorphism showed no significant differences between GCA patients and controls. When we compared the overall distribution of haplotype frequencies between GCA cases and controls a significant difference was observed (p = 0.005, by chi-square test from 4 2 contingency table). In addition, haplotype C-C was significantly increased in GCA patients compared with controls (p = 0.03, OR 2.09, 95% CI 1.09-4.02). Similarly, haplotype T-T was overrepresented in GCA patients (p = 0.005).
Conclusion:
Significant differences in haplotype frequencies between GCA patients and controls may indicate a role for MCP-1 gene in susceptibility to GCA.
