RESUMEN
Pemphigus vulgaris (PV) is an autoimmune intraepithelial bullous disease. Associations with the class II human leukocyte antigen (HLA) alleles and pemphigus vulgaris have been described. Furthermore, an association between the single nucleotide polymorphism of the ST18 gene and pemphigus vulgaris has been reported. We report two pairs of siblings from two unrelated Italian families affected by pemphigus vulgaris, characterizing their genetic and immunological profile. In order to assess the genetic background, HLA-DQA1, HLA-DQB1, HLA-DRB1 and a relevant ST18 polymorphism were investigated. As for the immunological profiles, anti-desmoglein antibodies were analyzed. In family A, the two pemphigus vulgaris patients had the same HLA genetic profile: HLA-DQA1 *01:04/*03:01, HLA-DQB1 *03:02/*05:03 and HLA-DRB1 *04:02/*14:01. The male patient was heterozygous for the ST18 mutation while the female patient had a wild genotype. In family B, the two pemphigus vulgaris patients were both wild type for the ST18 mutation and showed the same HLA genotype: HLA-DQA1 *03:01/*05:08, HLA-DQB1 *03:01/*03:03 and HLA-DRB1 *04:02/*11:01. Our data show a relevant relationship between the HLA profile and pemphigus vulgaris in our Italian families. In family A, all six alleles are frequently associated with pemphigus vulgaris and were expressed only in the two pemphigus patients; and in family B, two of the six alleles are frequently associated with pemphigus vulgaris. No relevant relationship was found between ST18 polymorphism and pemphigus disease.
Asunto(s)
Cadenas beta de HLA-DQ , Cadenas HLA-DRB1 , Pénfigo , Alelos , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , Haplotipos , Humanos , Italia , Masculino , Mutación , Pénfigo/genética , Proteínas Represoras , HermanosRESUMEN
BACKGROUND: Chronic idiopathic acrocyanosis is a common acrosyndrome. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the metabolism of folate. Two functional polymorphisms of MTHFR have been identified, C677T and A1298C. OBJECTIVE: To compare the prevalence of these two MTHFR polymorphisms in patients with chronic idiopathic acrocyanosis to a control group. MATERIALS AND METHODS: The study was conducted on 43 consecutive patients with acrocyanosis and on 100 controls. RESULTS: The risk of acrocyanosis was significantly higher in patients homozygous for the mutation c.677C>T compared to those with no mutation (OR = 4.8 (95%CI 1.5-14.9)). The homozygosity TT was associated with an increased homocysteine level. CONCLUSION: On the basis of our findings, acrocyanosis could be considered as a cutaneous sign of a "latent" cardiovascular risk. This should be taken into account particularly when acrocyanosis is associated either to other medical conditions that determine vessel wall damage or to conditions that predispose to the risk of thromboembolism.
Asunto(s)
Cianosis/genética , Dermatosis del Pie/genética , Dermatosis de la Mano/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , Adulto , Estudios de Casos y Controles , Enfermedad Crónica , Femenino , Humanos , MasculinoRESUMEN
To study the association between early fetal loss and the presence of the PLA2 polymorphism of the ITGB3 gene we conducted a case-control study on 98 cases (i.e., women in fertile age, who experienced at least one episode of early fetal loss) and 38 healthy controls. PLA2 polymorphism was present in 44.2% of cases and 18.4% of controls, and cases with one (n = 24) event had an odds ratio (OR) = 2.7 (95% confidence interval [CI] 0.7-10.0), with two events (n = 52) an OR = 3.8 (95% CI 1.3-11.5), and with three (n = 16) or four abortions (n = 6) had a combined OR = 4.4 (95% CI 1.2-17.0), compared to controls, indicating that PLA2 polymorphism may be implicated in an inherited form of thrombophilia, and to early fetal loss.
Asunto(s)
Aborto Espontáneo/genética , Antígenos de Plaqueta Humana/genética , Integrina beta3/genética , Polimorfismo Genético , Femenino , Muerte Fetal/genética , Humanos , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , PronósticoRESUMEN
BACKGROUND: Folate deficiency occurs frequently and the related hyper-homocysteinaemia is considered a risk factor for thrombosis. We investigated folate status and homocysteine (Hcy) concentration in patients under 60 years on oral anticoagulant therapy (OAT) for previous venous or arterial thrombosis and in healthy blood donors. PATIENTS AND METHOD: Thirty-nine patients (mean age 35.2 years) on OAT for longer than 6 months and forty 44 healthy blood donors (mean age 36.0 years) were evaluated. Diet, serum folate (SF), red blood cell folate (RCF), homocysteinaemia, vitamin B12 levels and the mutation C677T of methylenetetrahydrofolate-reductase (MTHFR) gene were determined. RESULTS: The mean SF and Hcy concentrations were significantly higher in patients compared with blood donors (SF = 17.7 versus 10.5 nmol/L, P < 0.0001; Hcy = 11.7 versus 8.9 micromol/L, P = 0.009). Twelve out of 39 patients and 7 out of 44 blood donors were homozygous for the mutation C677T of MTHFR gene. Among the remaining subjects, non-homozygous for the mutation, the patients (27) had mean SF and Hcy levels significantly higher than the (37) blood donors (SF = 18.1 versus 10.8 nmol/L, P < 0.0001; Hcy = 10.3 versus 7.9 micromol/L P < 0.0006). CONCLUSION: Italian patients aged under 60 years on OAT and non-homozygous for the mutation C677T of MTHFR gene, had SF and Hcy concentrations significantly higher than the control group.