Association study between matrix metalloproteinase-9 gene (MMP9) polymorphisms and the risk of Henoch-Schönlein purpura in children

Abstract

ABSTRACT. Henoch-Schönlein purpura nephritis (HSPN), the most serious long-term complication of Henoch-Schönlein purpura, is one of the most common renal diseases in children. Matrix metalloproteinase-9 (MMP-9) is implicated in the pathogenesis of renal diseases. Genomic DNA was isolated from the venous blood leukocytes of 220 unrelated patients with HSPN and 205 unrelated healthy individuals. To identify markers contributing to genetic susceptibility to HSPN, this study examined the potential association between HSPN and four single nucleotide polymorphisms of the MMP-9 gene (MMP9) (rs17576, rs3918254, rs3787268, and rs2236416) by using the MassARRAY system. The allelic or genotypic frequencies of the rs17576 (exon 6) and rs3918254 (intron 6) polymorphisms in HSPN were significantly different from those in the healthy controls. The HSPN subjects had a significantly higher frequency of the G allele of rs17576 (χ 2 = 8.416, P = 0.004, OR = 1.556, 95%CI = 1.153-2.100) and a significantly lower frequency of the A allele of rs2236416 (χ 2 = 10.363, P = 0.001, OR = 0.545, 95%CI = 0.375-0.791). Linkage disequilibrium was observed in two blocks (D' > 0.9; r 2 > 0.8 in control). In block 1, significantly more G-C haplotypes (P = 0.011) and significantly fewer A-C haplotypes (P = 0.008) were found in the HSPN subjects. In block 2, significantly more G-G haplotypes (P = 0.016) and significantly fewer A-G haplotypes (P = 0.006) were found in the HSPN subjects. These observations suggest that the rs17576 and rs3918254 polymorphisms of MMP9 are associated with HSPN.

Study on Mechanism of Tripterygium Wilfordii in Treatment of Henoch-Schonlein Purpura Nephritis Based on Network Pharmacology and Molecular Docking Technology

“…According to the literature query results, refer to whether there is direct medical evidence and new research hotspots of TW, docking targets are Eight related protein receptors TNF, TGFB1, MMP9, VEGFA, IL2, IL4, ICAM1, and VCAM1 [11][12][13][14][15][16][17] . Molecular docking of the pdbqt les of the three active ingredients in TW met the screening criteria and the pdbqt les of the protein receptors mentioned above.…”

Genetic Variants of ANGPT1, CD39, FGF2 and MMP9 Linked to Clinical Outcome of Bevacizumab Plus Chemotherapy for Metastatic Colorectal Cancer

“…While this MMP9 rs2274755 has been investigated in several studies, none of these studies have examined its impact on the efficacy of BVZ treatment in mCRC patients, and available data suggest that this SNP might be involved in the development of asthma [ 39 ]. MMP9 rs2236416 is an intron variant, and a significantly lower frequency of its wild-type (A) allele has been reported among individuals with Henoch-Schönlein purpura nephritis (HSPN) [ 40 ]. No functional data are available for this polymorphism.…”

Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients

“…Interestingly, Ahluwalia et al [12] as well as several others [24][25][26] describe the polymorphism rs17576 as a substitution from G to A (Arg279Gln), whereas current databases (dbSNP, 1000G, and ExAC) describe the poly- morphism rs17576 as a substitution from A to G (Gln279Arg), implying the A as wild-type allele. Therefore, the present study is based on this more up-to-date definition and in line with currently listed frequencies.…”