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R Scorza-Smeraldi

Publications and source records attributed to R Scorza-Smeraldi.

13 recordsLinked to original sources

Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10.

OBJECTIVE: To determine whether 7 candidate genes, including tumor necrosis factor receptor II, bcl-2, CTLA-4, interleukin-10 (IL-10), CD19, Fcy receptor type IIA (CD32), and IL-1 receptor antagonist, may contribute to susceptibility to systemic lupus erythematosus (SLE) in the Italian population. METHODS: The association with SLE of intragenic markers for each candidate gene, including either microsatellites or dimorphisms, was analyzed. Gene frequencies of these gene markers were compared for patients and ethnically matched controls. Significance was tested by chi-square test on 2 x 2 tables and by Monte Carlo simulation on 2 x N tables. RESULTS: A significant increase was found in SLE patients (0.170 versus 0.095; chi2y = 4.11, P = 0.0425) in the frequency of the 140-basepair allele of the IL10.G microsatellite located in the promoter region of the IL-10 gene. This finding was confirmed in a second independent panel where, again, the frequency of the 140-bp allele was found to be significantly increased in SLE patients versus controls (0.176 versus 0.086; chi2y = 3.95, P = 0.0470). Considering the 2 panels together, the relative risk conferred by the presence of the 140-bp allele was 1.78 (95% confidence interval 1.19-2.66). Conversely, no significant association was detected for the remaining 6 candidate genes, even when the patients were stratified according to the presence of different clinical and immunologic features according to the presence of the associated HLA-DR or IL-10 alleles. CONCLUSION: Of the 7 candidate genes tested, only IL-10 was significantly associated with SLE in Italian patients. This genetic marker represents, apart from HLA, the only genetic susceptibility factor for SLE found so far in the Italian population.

Abatacept↗

Family study of schizophrenia: exploratory analysis for relevant factors.

Two hundred twenty-nine schizophrenic patients, diagnosed according to DSM-III criteria, and their first degree relatives (except children) were studied. HLA A1 and CRAG A1 antigens were used as markers of probable dopaminergic pathology and, therefore, as possible indicators of genetic homogeneity that might identify subgroups of families with a specific and recognizable liability. Data were subjected to a logistic analysis in which the dependent variable was the presence of schizophrenia spectrum disorders in relatives, and the independent variables were the presence or absence of HLA A1 and CRAG A1 antigens, the sex of the proband, the sex of the relative, the severity of illness in the proband, and the type of relationship. The results for the entire sample demonstrate that the type of relationship, the sex of the proband, and the sex of the relative have significant effects on the risk of disorder in the relatives. In addition, the presence in the proband of one of the CRAG A1 antigens is a valid classification criterion for identifying a relatively homogeneous subgroup of families of schizophrenic patients.

Adolescent↗

HLA antigens and the reactivity of lymphocytes to some drugs and PHA.

Peripheral blood lymphocytes from 15 healthy subjects, selected on the basis of their HLA types, were cultured in vitro in the presence of PHA and of a number of drugs which bind adrenergic or dopaminergic receptors (dopamine, norepinephrine, chlorpromazine, haloperidol, propranolol and apomorphine). The results obtained are consistent with an interference between HLA-A1 and cross-reacting specificities and the effect explained by these drugs on the lymphocyte activation by PHA. The possibility is suggested that HLA-A1 and cross-reacting antigens interfere with the binding of such drugs to the cell membrane receptors.

Adult↗

MLR-specific suppressor T lymphocytes in man. II. Functional and membrane characteristics of a specific MLR suppressor subpopulation.

Human MLR-specific suppressor T lymphocytes were induced by in vitro cultivation of human peripheral T lymphocytes in the presence of soluble HLA-DR alloantigens isolated from normal serum. The suppression is specific in that responder cells autologous to the suppressor cells respond to allogeneic stimulating cells that express the same HLA-DR specificity as that recovered from serum and used to induce the suppressor cells. This antigen-specific suppressor T cell population could be divided into suppressor and non-suppressor subpopulations as a function of adherence to a 6MB Sepharose immunoadsorbent coated with the inducing HLA-DR soluble antigen. As a consequence of activation by soluble DR antigen, the suppressor T lymphocyte population as well as the column-enriched suppressor subpopulation express new membrane specificities that can be recognized by antisera from pluriparous women. The specificities that are recognized are not found on autologous, unstimulated B and T cells, nor do they appear to recognize conventional HLA-A,B,C or DR determinants.

Antigens, Surface↗

Interference between anti-HLA antibodies and CPZ metabolites.

The interference of chlorpromazine (CPZ) and several preincubated CPZ metabolites on the lymphocyte absorption of antibodies directed against HLA-A1 and other nonrelated HLA specificities were investigated. Both CPZ and metabolites 7-OH-, Nor1-, and Nor2-CPZ were found to interfere with the specific absorption of anti-HLA-A1 antibodies. The meaning of such a result is discussed.

Absorption↗

HLA typing on Italian multiple sclerosis population.

Considerable evidence suggests the existence of significant differences of HLA distribution between M.S. patients and normal healthy subjects of the same population. In the present work we investigate whether the antigen DW2 may be a better marker for M.S. than the specificities at the loci A and B by means of in vitro one-way mixed lymphocyte cultures.

HLA Antigens↗

Immunogenetics of Lennox-Gastaut syndrome: search for LD determinants as genetic markers of the syndrome.

In a previous work we demonstrated a strong association between HLA-B7 and the susceptibility to the Lennox-Gastaut syndrome. In this work we report some preliminary results obtained performing one-way mixed lymphocyte cultures in vitro between 15 unrelated children showing the typical EEG and clinical patterns of the syndrome. The same children were also tested against unrelated control cells from healthy donors. The low stimulation displayed by Lennox-Gastaut patients between them as compared with the higher stimulation found in patients/controls and controls/controls comparisons suggests the existence of an LD allele which may be associated with the disease.

Alleles↗

The HLA system and multiple sclerosis.

We referred the data on association between M.S. patients and HLA complex in the different populations. Then we discussed the different aetiopathogenetic hypothesis that centre on the disease. We considered also viral and autoimmunity theory and the possibility that these two hypothesis don't wrangle but complete them.

Antibody Formation↗

HLA system and affective disorders: a sibship genetic study.

The authors have investigated HLA-haplotype zygotic assortment in 21 families with multiple cases of affective disorders and in 19 sibling pairs discordant for the disease. The finding of excess similarity between affected sibs stressed the possibility of the existence of genes in the HLA chromosomal region which are involved in the susceptibility to affective disorders. The mode of inheritance of such an hypothesized DS gene was also tested and some theoretical implications are discussed.

Affective Symptoms↗

HLA typing and affective disorders: a study in the Italian population.

HLA phenotype distribution was investigated in 91 affective patients. Significant increases over those of the control population were found in HLA-A 29 and in Bw 22 frequencies, while A 10 and A 30 were decreased. No significant difference was shown between the two clinical subgroups (41 unipolar patients and 50 bipolar ones). On comparing our data with those from other authors, Bw 16 was significantly increased. However, a high degree of heterogeneity was also shown for this antigen. Of some interest is the finding that relapsed and non-relapsed patients during long-term lithium therapy display diverging HLA phenotype distributions, with B 5 increased among the non-relapsed subjects.

Bipolar Disorder↗

HLA-SD antigens and schizophrenia: statistical and genetical considerations.

The HLA-SD phenotype distributions of hebephrenic and paranoid schizophrenics, and of the two groups combined, in an Italian population and in a combined group from the Swedish population have been analyzed statistically. There is a significantly decreased frequency of HLA-A10 in all of these. Theae are some preliminary indications of an increased frequency (a positive association) for some of the other antigens of the HLA-SD series, but there is insufficient data at present for evaluating the significance of these findings. Differences between hebephrenic and paranoid schizophrenics have been detected.

Diagnosis, Differential↗