RESUMO
Rheumatoid arthritis (RA) is an autoimmune inflammatory disease with an increased prevalence in Mexico. Although its etiology is unknown, its development can be influenced by environmental factors such as smoking and viral infections. But among the factors influencing susceptibility, it is the genetic factors that predominate, mainly the HLA-DRB1 genes, and specifically the alleles that have the shared epitope (SE). A transversal study was performed, in which 31 patients (28 women and 3 men) with RA, treated at the autoimmunity clinic of the High Specialty Hospital Ciudad Salud in Tapachula, Chiapas, southern México, were enrolled. Clinical, biochemical, and demographic data were analyzed; ESR (erythrocyte sedimentation rate), CRP (C-reactive protein), RF (rheumatoid factor), and ACPA (anticitrullinated peptide antibody) were recorded. All patients had at least one positive RA biological marker. For HLA alleles frequencies comparison, we enrolled ethnically matched healthy controls in a ratio of 3:1 for 25 cases and 4:1 for 6 cases in order to guarantee the balance between groups regarding the mean of age and proportion of gender (males vs females). HLA-DRB1*04 was found to be significantly increased in patients compared with ethnically matched healthy controls (p 0.0007, OR: 2.8, 95% CI 1.5-5.1); contrarily, DRB1*08 showed a protective effect (p 0.005, OR 0.1). This paper confirmed the involvement of HLA genes on risk determination for RA in a population of Mexican Mestizos from Tapachula, Chiapas. Key Points ⢠HLA-DRB1*04 confirms the increased risk of rheumatoid arthritis. ⢠HLA-DRB1*08 showed a more definite protective effect in southern Mexicans mestizos, a population with more Amerindian ancestry.
Assuntos
Artrite Reumatoide , Predisposição Genética para Doença , Alelos , Artrite Reumatoide/genética , Feminino , Genótipo , Cadeias HLA-DRB1/genética , Humanos , Masculino , MéxicoRESUMO
OBJECTIVE: The aim of the study was to investigate association between HLA class II alleles and juvenile idiopathic arthritis (JIA) in Mexican patients. PATIENTS AND METHODS: We typed 120 patients with JIA and 99 healthy controls for HLA class II alleles were performed by PCR-SSO. Differences between the whole group of JIA and its subtypes and controls were calculated by using the Xi2; p-values were corrected (pc) with Bonferroni's test. RESULTS: The alleles HLA-DRB1*01 (pc= 0.00083) and HLA-DRB1*04 (pc=0.0049) were strongly associated with systemic JIA, while HLA-DRB1*11 and HLA-DRB1*14 were found to have decreased frequencies in the patients with systemic JIA compared to the controls. Two alleles were found to have increased frequencies with JIA oligoarthritis subgroup, HLA-DRB1*11 (p=0.01, pc=NS) and HLA-DRB1*13 (p=0.01, pc=NS). The HLA-DRB1*04 was found increased frequencies with susceptibility for RF negative and RF positive polyarthritis JIA subgroups (p correction resulted in loss of significance). In contrast two alleles HLA-DRB1*07 and HLA-DRB1*14 were found decreased frequencies only patients RF positive polyarthritis JIA subgroup compared to the controls (pc=NS). CONCLUSION: The profile of HLA-DRB1 alleles associations in Mexican with JIA were somewhat distinct from association typically found in Caucasians.
Assuntos
Artrite Juvenil/etnologia , Artrite Juvenil/genética , Antígenos HLA-DR/genética , Indígenas Norte-Americanos/genética , Indígenas Norte-Americanos/estatística & dados numéricos , Adolescente , Alelos , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença/etnologia , Cadeias HLA-DRB1 , Humanos , Incidência , Lactente , Masculino , México/epidemiologia , PrevalênciaRESUMO
UNLABELLED: Pemphigus are a group of bullous skin disorders histologically characterized by intraepidermal acantholytic and circulating antibodies blisters due to directed against the cellular surface of keratinocytes. In Mexican patients with pemphigus, HLA antigens have not been studied as they have been for other populations; for this reason, a comparative, prospective, transversal and observational study has been done with 25 patients, 18 with pemphigus vulgaris and the other seven with pemphigus foliaceus. DNA was extracted by the salting-out method and HLA-DR was determined by amplification with PCR and allele-specific oligonucleotides (ASO). RESULTS: HLA-DR14 (DR6) is more common in patients with pemphigus vulgaris than in the healthy population, which corroborates with previous reports. On the other hand, as reported we also found that HLA-DR1 in Mexican population represents a higher risk for pemphigus foliaceus.
Assuntos
Antígenos HLA-DR/sangue , Pênfigo/sangue , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
Systemic lupus erythematosus is a disease of unknown etiology. Multiple genetic factors are believed to be involved in its pathogenesis. In addition, and due to genetic heterogeneity, these factors and/or their combinations may be different in different ethnic groups, while some might be shared between populations. We have performed genome scans in multicase families from three different population groups, two from Northern Europe, with a high degree of homogeneity, and the third from a recently admixed population of Mexican Mestizos. Although our family material is relatively small, the results presented here show that using family sets from well defined populations are sufficient to detect susceptibility loci for SLE. Our results also reveal the chromosomal regions most likely to contain susceptibility genes for SLE.