Association of a nonsynonymous single‐nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis

Abstract

Objective. Giant cell arteritis (GCA) is the most common type of primary vasculitis. Matrix metalloproteinase 9 (MMP-9) is present in arterial lesions of GCA and may be involved in its pathogenesis. We investigated whether certain genotypes of 4 single-nucleotide polymorphisms (SNPs) of MMP-9 are overrepresented in patients with histologically confirmed GCA.Methods. Four SNPs of MMP-9, rs3918242 in the promoter region and 3 nonsynonymous coding SNPs (rs3918252, rs17576, and rs2250889) were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis in 58 white patients for whom there was a clinical suspicion of GCA. Thirty of these patients had histologically confirmed GCA (group 1), and 28 patients had negative results of a temporal artery biopsy for GCA (group 2). Estimates of the genotype distributions of each of these SNPs in a white population were determined using publicly available genotype data for a panel of 23 individuals (group 3).Results. Although 1 SNP was monomorphic in all 3 groups, we observed statistically significant differences in the genotype distributions for rs2250889 between group 1 and group 2 (P ‫؍‬ 0.005) and between group 1 and group 3 (P ‫؍‬ 0.009), but not between groups 2 and 3 (P ‫؍‬ 0.965).Conclusion. These data derived from a sample of patients with GCA suggest that the G allele of MMP-9 polymorphism rs2250889 is overrepresented in patients with histologically confirmed GCA. Clearly, larger sample sizes will be necessary to confirm this suggestive association and better characterize a possible linkage disequilibrium structure among polymorphisms.

Association between matrix metalloproteinase 9 promoter polymorphisms and Behçet's disease

“…The number of CA repeats of Ϫ91 [CA] n repeat polymorphisms in all study subjects ranged from 17 to 26, but allele with 18 repeats was not observed in this study. The CA repeat numbers was unimodally distributed, and the most frequent number was 21 (46.7% in controls, 51.6% in BD patients), followed by 23 (29.2% in controls, 25.8% in BD patients) and 22 (12.3% in controls, 16.4% in BD patients). The frequencies of CA repeat num- (Table 3).…”

Lack of Association Between STAT4 Gene Polymorphism and Biopsy-proven Giant Cell Arteritis

“…Moreover, many other studies have shown the implication of genetic variants in key components of immune and inflammatory pathways in GCA susceptibility or clinical expression of this vasculitis [12][13][14][15][16][17][18][19][20][21][22][23][24][25][26] .…”

C-Reactive Protein Gene Polymorphisms in Biopsy-proven Giant Cell Arteritis from Northwestern Spain

“…The Journal of on July 21, 2015 -Published by www.jrheum.org Downloaded from have examined genetic variants in key components of immune and inflammatory pathways known to be activated in GCA [32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49] . Most of them have shown an association with susceptibility to the disease or with features of this vasculitis such as PMR or severe ischemic complications or the occurrence of relapses 32,33,35-44,46-49 . GCA is typically characterized by a marked elevation of routine laboratory markers of inflammation 4 .…”