Magdaléna Hladíková

Matrix metalloproteinase-9 and matrix metalloproteinase-2 gene polymorphisms in multiple sclerosis

We investigated the association of matrix metalloproteinase-9 (-1562C/T, +279R/Q) and matrix metalloproteinase-2 (-1575G/A, -1306C/T) gene polymorphisms with multiple sclerosis (MS) susceptibility, gender differences and disability in 244 patients and 132 healthy subjects. A significant decrease of the -1562T allele carriers in MS patients compared to controls (Pa=0.01, Pacorr=0.05) in -1562C/T MMP-9 gene polymorphism was found, (odds ratio (OR) -0.58, 95% confidence interval (CI):0.38-0.89). Significant differences were also demonstrated between female patients and healthy females (Pa=0.01, Pacorr=0.05), (OR-0.53, 95% CI:0.32-0.86). Other polymorphisms were not associated either with MS susceptibility or with phenotype of the disease. No association with disability was found.

Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis

We investigated the HLA-DRB1*1501 tagging rs3135388 gene polymorphism and its association with multiple sclerosis (MS) susceptibility, disability and gender differences. The study group consisted of 306 MS patients and 137 healthy individuals. A significant difference in genotype distribution (Pg=3.06×10(-9)) and allele frequency (Pa=6.08×10(-10)) between MS patients and controls was demonstrated. The homozygotes AA and heterozygotes GA were more frequent in MS patients (OR=4.27, 95% CI: 2.64-6.92). A significant difference between female MS patients and female controls in genotype distribution (Pg=1.3×10(-8)) and allele frequency (Pa=2.82×10(-9)); (OR=5.11, 95% CI: 2.86-9.15) was also proved. Our results indicate that the distribution of the rs3135388 gene polymorphism is a risk factor for MS susceptibility in the Czech female population.

Two frequent polymorphisms of angiotensinogen and their association with multiple sclerosis progression rate

A total of 195 patients with multiple sclerosis (MS) and 126 controls were investigated for angiotensinogen/(-6)A/G, M235T/and angiotensin converting enzyme I/D gene polymorphisms to test their association with MS susceptibility and/or disease progression using Global Multiple Sclerosis Severity Score (MSSS). We demonstrated a significant association of M235T polymorphism with MSSS. The MM homozygotes had the lowest (3.8), heterozygotes MT higher (5.2) and homozygotes TT the highest (5.4) mean MSSS values (P=0.02). For polymorphisms (-6)A/G of ATG, only a trend was observed (P=0.06), where the homozygotes GG carried lower MSSS values than heterozygotes and homozygotes AA. No significant association with susceptibility was observed. For ACE I/D polymorphism, neither significant differences in the genotype-phenotype study nor in the case-control study were observed.