title: Association of MMP-9 gene polymorphisms with Behçet's disease risk.
abstract: The human matrix metalloproteinases (MMPs) are importantly involved in aneurysm formation. Since the clinical manifestations in Behçet disease (BD) include aneurysm formation among major symptoms, polymorphisms in MMP-9 might be associated with BD susceptibility. The aim of the current case-control study was to investigate the association of four single nucleotide polymorphisms (SNPs) in MMP-9 gene: -1562 C/T, 2003 G/A (R668Q), 836 A/G (Q279R) and 1721 C/G (R574P) with BD risk in the Tunisian population. The distribution of MMP-9 gene polymorphisms was analyzed by polymerase chain-reaction (PCR) and restriction fragment length polymorphism (RFLP) for 240 BD patients and 288 controls. Our study indicated that the MMP-9 -1562 C/T polymorphism (rs3918242) was not associated with BD risk. We found a significant association of the MMP-9 2003 G/A (rs17577) with an increased susceptibility to BD. However, the MMP-9 1721 C/G polymorphism (rs2250889) had a protective role against the development of BD. Subgroup analysis based on stratification by gender revealed that the MMP-9 2003 G/A polymorphism was associated with a highly significant BD risk in women's group (G vs. A: P=0.0000001). However, the MMP-9 836 A/G polymorphism had a protective role in men's group (G vs. A: P=0.00043). The MMP-9 1721 C/G polymorphism was associated with a protective effect in both men and women groups (CG+GG vs. CC: P=0.04 and P=0.0002, respectively). The haplotype analysis did not show any association with BD risk. A significant difference in the MMP-9 serum levels were observed in the patient subgroup with ocular lesions manifestations.
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia. Electronic address: naouali_abir@yahoo.fr.
authors: Abir
authors: A
authors: Naouali
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia. Electronic address: Kaabachi.wajih@gmail.com.
authors: Wajih
authors: W
authors: Kaabachi
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia. Electronic address: kalthoum.Tizaoui@yahoo.com.
authors: Kalthoum
authors: K
authors: Tizaoui
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia. Electronic address: emyra_benamor@outlook.fr.
authors: Amira Ben
authors: AB
authors: Amor
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia; A. Mami Hospital, Ariana Homeostasis and Cell Dysfunction, UR/12-SP-15, Tunisia. Electronic address: agnes.hamzaoui@rns.tn.
authors: Agnès
authors: A
authors: Hamzaoui
authors: Department of Basic Sciences, Medicine Faculty of Tunis, University Tunis El Manar, Tunis 1007, Tunisia. Electronic address: kamel.hamzaoui@gmail.com.
authors: Kamel
authors: K
authors: Hamzaoui
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001528:Behcet Syndrome / Q000097:blood / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D055815:Young Adult
chemical_list: D020780:Matrix Metalloproteinase 9
keywords: Behçet's disease; Matrix metalloproteinases-9; Single nucleotide polymorphism