PT  - JOURNAL ARTICLE
AU  - WIPFF, JULIEN
AU  - DIEUDE, PHILIPPE
AU  - AVOUAC, JEROME
AU  - TIEV, KIET
AU  - HACHULLA, ERIC
AU  - CRACOWSKI, JEAN-LUC
AU  - DIOT, ELIZABETH
AU  - SIBILIA, JEAN
AU  - MOUTHON, LUC
AU  - MEYER, OLIVIER
AU  - KAHAN, ANDRE
AU  - BOILEAU, CATHERINE
AU  - ALLANORE, YANNICK
TI  - Association of Metalloproteinase Gene Polymorphisms with Systemic Sclerosis in the European Caucasian Population
AID  - 10.3899/jrheum.090973
DP  - 2010 Mar 01
TA  - The Journal of Rheumatology
PG  - 599--602
VI  - 37
IP  - 3
4099  - http://www.jrheum.org/content/37/3/599.short
4100  - http://www.jrheum.org/content/37/3/599.full
SO  - J Rheumatol2010 Mar 01; 37
AB  - Objective. Systemic sclerosis (SSc) is classified among the complex genetic disorders and is characterized by massive extracellular matrix deposits. These may be due to overactivation of transforming growth factor ß that may be in part a result of abnormal remodeling of extracellular matrix and microfibrils. Metalloproteinases (MMP) are a family of proteolytic enzymes, and MMP 2, 9, and 14 contribute to the degradation of microfibrils. Our aim was to determine whether polymorphisms of the MMP2, MMP9, and MMP14 genes confer susceptibility to SSc in a large population. Methods. A case–control study was performed in 659 SSc patients and 511 healthy matched controls from a European Caucasian population. Six Tag single-nucleotide polymorphisms (SNP) of the MMP2 gene and 2 SNP of MMP9 and MMP14 genes were genotyped. Results. All SNP were in Hardy-Weinberg equilibrium in the control population. There was no association between the MMP2, MMP9, and MMP14 variants we investigated and SSc for allelic and genotype frequencies. No association was observed for the different subphenotypes of SSc patients. Conclusion. Our results in a large cohort of European Caucasian SSc patients do not support that MMP2, MMP9, and MMP14 genes are involved in the genetic background of SSc.