RGD Reference Report - Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis. - Rat Genome Database

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

Authors: Rodriguez-Pla, A  Beaty, TH  Savino, PJ  Eagle RC, JR  Seo, P  Soloski, MJ 
Citation: Rodriguez-Pla A, etal., Arthritis Rheum. 2008 Jun;58(6):1849-53. doi: 10.1002/art.23457.
RGD ID: 8547902
Pubmed: PMID:18512818   (View Abstract at PubMed)
DOI: DOI:10.1002/art.23457   (Journal Full-text)

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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
MMP9Humantemporal arteritis no_associationIAGP DNA:SNPs:promoter more ...RGD 
MMP9Humantemporal arteritis  IAGP DNA:SNP:CDS:rs2250889 (human)RGD 
Mmp9Rattemporal arteritis no_associationISOMMP9 (Homo sapiens)DNA:SNPs:promoter more ...RGD 
Mmp9Rattemporal arteritis  ISOMMP9 (Homo sapiens)DNA:SNP:CDS:rs2250889 (human)RGD 
Mmp9Mousetemporal arteritis no_associationISOMMP9 (Homo sapiens)DNA:SNPs:promoter more ...RGD 
Mmp9Mousetemporal arteritis  ISOMMP9 (Homo sapiens)DNA:SNP:CDS:rs2250889 (human)RGD 


Genes (Rattus norvegicus)
Mmp9  (matrix metallopeptidase 9)

Genes (Mus musculus)
Mmp9  (matrix metallopeptidase 9)

Genes (Homo sapiens)
MMP9  (matrix metallopeptidase 9)