Association between matrix metalloproteinase 9 promoter polymorphisms and Behçet's disease.
Matrix metalloproteinase (MMP)-9 expression is reported to be upregulated in several primary vasculitides. The -1562C>T and -91 [CA](n) repeat polymorphisms can affect MMP-9 promoter activity. We investigated the distributions of these functional polymorphisms in 122 patients with Behçet's disease (BD) and in 122 gender- and age-matched healthy controls. Plasma levels of MMP-9 were analyzed. The frequency of "L" alleles with [CA](n) <21 was significantly lower in all BD patients (vs controls, odds ratio (OR) = 0.371 [95% confidence interval 0.152-0.905]) and male patients (vs male controls, OR = 0.117 [0.019-0.737]). Furthermore, the frequency of "H/H" homozygote with [CA](n) > or = 21 was significantly higher in BD patients than controls (OR = 2.677 [1.065-6.729]). Moreover, the frequency of CL haplotype with lower promoter activity was significantly lower in BD patients (vs controls, OR = 0.374 [0.149-0.939]) and in BD patients with visceral involvement (OR = 0.202 [0.044-0.916]). Although plasma MMP-9 levels were not different between controls and BD patients, concentrations of this substance were significantly higher in male patients (vs male controls, p = 0.044) or patients with visceral involvements (vs patients without visceral involvement, p = 0.027). These results suggest that MMP-9 is a novel susceptibility gene and its promoter polymorphisms can affect the development of visceral involvement in BD.
Lee
Yun Jong
YJ
Department of Internal Medicine and Immunology, Seoul National University College of Medicine, Seoul, Korea.
Kang
Seong Wook
SW
Baek
Han Joo
HJ
Choi
Hyo Jin
HJ
Bae
Young Deok
YD
Kang
Eun Ha
EH
Lee
Eun Young
EY
Lee
Eun Bong
EB
Song
Yeong Wook
YW
D000328:Adult; D044466:Asian People / Q000235:genetics; D001528:Behcet Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D018900:Dinucleotide Repeats / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007723:Korea; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000097:blood / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012727:Sex Characteristics
D020780:Matrix Metalloproteinase 9