Genotype Association of C(-735)T Polymorphism in Matrix Metalloproteinase 2 Gene with G(8002)A Endothelin 1 Gene with Plaque Psoriasis

Abstract

Background: Excessive angiogenesis is one of the characteristic features of psoriasis. Objective: To determine the possible genetic background of neo-angiogenesis in plaque psoriasis, frequent polymorphisms in matrix metalloproteinase 2 (MMP-2) and endothelin 1 (ET-1) genes were studied. Methods: The case group (n = 119) included patients with plaque psoriasis, aged 44 ± 15 years. The age of onset of psoriasis was 27 ± 11 years. The control group (n = 184) consisted of healthy subjects without any individual history of psoriasis, aged 37 ± 15 years. C(-735)T MMP-2 and G(8002)A ET-1 polymorphisms were determined by PCR reaction with subsequent restriction analyses. Results: A significant difference in genotype distribution of C(-735)T MMP-2 between psoriatic and control patients was found (p_corr = 0.008). Two associated genotypes (CCGG and CTGG) of the two polymorphisms were significantly less frequent in psoriatic patients (p_corr = 0.03 and p_corr = 0.008, respectively). Conclusion: The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.

Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin

“…Furthermore, HLA [37] and non-HLA gene polymorphisms (MDR3, A2BP1) [38,39] have also been implicated with the onset or progression of PBC. Endothelin polymorphisms have been investigated in cardiovascular diseases and hypertension, but there are also a few reports in other autoimmune diseases such as vitiligo [40], psoriasis [41], scleroderma [42], primary Raynaud [43]. However, no studies have been performed in PBC so far.…”

The evaluation of endothelin-1 and endothelin receptor type a gene polymorphisms in patients with vitiligo

“…Their “rs” numbers and locations are shown in Table 1 . These polymorphisms were selected according to the following criteria: Previous association for susceptibility to other diseases,[ 9 10 11 12 13 14 15 ] and adequate frequency in Caucasian populations to perform the evaluation. For detection of the mentioned polymorphisms, light SNiP assays were used.…”

“…[ 5 7 8 ] EDN1 functions are mediated predominantly by EDN receptor type A (EDNRA). Polymorphisms of EDN1 and EDNRA genes have been investigated in autoimmune diseases such as Hashimoto's thyroiditis (HT),[ 9 ] Graves’ disease,[ 10 ] scleroderma,[ 11 ] primary biliary cirrhosis,[ 12 ] and psoriasis[ 13 ] as well. There are only two studies in the literature examining the relationship between EDN1 gene polymorphisms and vitiligo with controversial results.…”

Functional polymorphisms in the matrix metalloproteinase genes and their association with bladder cancer risk and recurrence: A mini‐review

“…[60][61][62][63] SNP in the promoter regions with specific rare alleles are associated with higher transcriptional activity compared with those with lower transcriptional activity: MMP2 T versus C allele (rs243865, rs2285053), MMP7 G versus A allele (rs11568818), MMP8 T versus C allele (rs11225395), MMP9 T versus C allele (rs3918242) and also with specific frequent allele MMP12 A versus G allele (rs2276109). [64][65][66][67][68][69][70] There have been reports that the changes in transcriptional activity might be due to the facts that allele insertion/deletion affects the E-26 specific domain transcription factor binding site in the MMP1 gene, 62 or allele substitution that abolishes the Sp1 and AP-1 transcription factor binding site, in the MMP2 and MMP12 gene, respectively. 65,66 Additionally, there is speculation about the modulation role of CBG-02 protein in MMP8 C/T (11 225 395) transcription, the binding site of which is potentially contained in −799 oligonucleotide.…”