Biomedical subjects

Jozef Lukác

Publications and source records attributed to Jozef Lukác.

3 recordsLinked to original sources

PubMed2004

Apolipoprotein E polymorphism in patients with neuropsychiatric SLE.

The aim of this study was to investigate a relationship between neuropsychiatric SLE (NPSLE), characterized by many different neurological and psychiatric disorders, and the polymorphism of apoE as a neurobiologically important molecule conferring increased risk and a worse prognosis of a variety of CNS diseases. One hundred and forty-six SLE patients and 93 healthy controls were studied. Out of the SLE cohort, 48 patients (32.8%) were diagnosed with NPSLE and further classified according to criteria of onset, extent, relapsing tendency and type of neuropsychiatric impairment. Apolipoprotein E (apoE) polymorphism was determined by PCR-RFLP and confirmed by isoelectrofocusing. The frequency of the epsilon4 allele was significantly higher in the NPSLE group than in the non-NPSLE group (17.7% vs. 3.1%, chi(2)=19.05, p<0.0001). Distribution of apoE genotypes was significantly different between NPSLE and non-NPSLE groups (chi(2)=80.95, p<0.0001). Both epsilon4 allele frequency (17.7% vs 8.6%, chi(2)=5.082, p<0.024) and genotype distribution (chi(2)=7.202, p<0.027) were significantly different between NPSLE group and the controls. The allele epsilon4 was also associated with earlier disease onset (Fisher's test, p<0.036) and peripheral nervous system involvement (chi(2)=8.242, p<0.0041), but not with relapse frequency ( p<0.37) or major/minor subtype of the disease ( p<0.90). The epsilon4 allele carriers did not develop significantly more neuropsychiatric syndromes than non- carriers (1.75+/-0.23 sy (mean +/- SD) in epsilon4 vs 1.85+/-0.19 sy (mean +/- SD) in non-epsilon4 carriers, Mann-Whitney test, p<0.78). In conclusion, the data suggest an association between apoE polymorphism and NPSLE.

Adult↗

PubMed2004

Factor V Leiden and prothrombin G20210A mutations and the risk of atherothrombotic events in systemic lupus erythematosus.

Because genetic predisposition to atherothrombosis in systemic lupus erythematosus (SLE) remains to be determined, the most common genetic prothrombotic factors, prothrombin G20210A and factor V Leiden mutations, were studied. Seventy-four SLE patients with vascular ischemia (SLE cases) were studied and stratified into myocardial infarction and/or cerebrovascular accident subgroup (MI/CVA), and coronary heart disease subgroup without overt arterial thrombotic events (CHD). Seventy-one SLE patients without atherothrombosis were investigated as SLE controls. Factor V Leiden was detected in six cases (five in MI/CVA, one in CHD group) and three controls (OR 2.00, 95%CI 0.48-8.32). Two cases (both CHD patients) had prothrombin G20210A mutation vs. three controls (OR 0.63, 95%CI 0.1-3.88). Anticardiolipin antibodies (aCL) were increased in cases vs. controls (39/74 vs. 27/71); however, this was not statistically significant (OR 1.82, 95%CI 0.94-3.52). Neither univariate nor multivariate analysis indicated that investigated mutations are risk factors for atherothrombosis in SLE cases, MI/CVA, or CHD subgroups. Overall, disease activity was the strongest risk factor for atherothrombosis (p=0.0014) in SLE cases. Combination of disease activity+gender was the best predictor of atherothrombotic process (p=0.00045) in this cohort. In MI/CVA subgroup, disease activity was the only predictor (p=0.0058). In CHD patients, the best predictive value was conferred by combination of hypertension+gender+disease activity (p=0.00077). No other investigated risk factor (including aCL) conferred an increased risk individually or potentiated the other risk factors. The results deny the role of investigated mutations in atherothrombosis in SLE, but they underscore the importance of disease activity (i.e., ongoing inflammation) in pathogenesis of atherosclerosis and arterial thrombosis.

3' Untranslated Regions↗

PubMed2004

Interleukin 1alpha single-nucleotide polymorphism associated with systemic sclerosis.

OBJECTIVE: In systemic sclerosis (SSc), constitutive expression of the proinflammatory and fibrogenic cytokine interleukin 1alpha (IL-1alpha) by dermal fibroblasts from the affected skin has been observed. We investigated the association of a single-nucleotide polymorphism at position -889 in the IL-1alpha gene in patients with SSc. METHODS: Genotyping of IL-1alpha-889 polymorphism was performed in 46 patients with SSc and in 150 healthy controls by polymerase chain reaction with sequence-specific primers. All subjects were unrelated Slovak Caucasians. RESULTS: In SSc patients, carriers of the IL-1alpha-889 T allele were significantly overrepresented in comparison with controls (63.0% vs 42.0%; p = 0.01, OR 2.3, 95% CI 1.2-4.6). The frequency of the IL-1alpha-889 T allele was increased in SSc patients (38.0%) in comparison with controls (25.7%; p = 0.02). CONCLUSION: The IL-1alpha-889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc.

Case-Control Studies↗