Subject(s)
Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/complications , Colitis, Ulcerative/etiology , Immunoconjugates/therapeutic use , Abatacept , Arthritis, Rheumatoid/drug therapy , Colitis, Ulcerative/drug therapy , Drug Therapy, Combination , Humans , Male , Methotrexate/therapeutic use , Middle AgedABSTRACT
PURPOSE: Glaucoma is a clinically heterogeneous disease with a pathophysiology that may include genetic susceptibility, possibly associated with an immunologic disorder. The aim of this study was to determine whether the DNA polymorphisms located in the HLA-DRB1 and HLA-DQB1 genes show a specific association pattern in Mexican mestizo patients with primary open-angle glaucoma. METHODS: This was a cross-sectional, case-control, multicenter study. We analyzed the HLA-DRB1 and DQB1 loci of 81 Mexican mestizo nonrelated patients with primary open-angle glaucoma and 98 healthy ethnic matched control subjects. Patients were diagnosed clinically and by visual fields examination. HLA typing was performed by PCR-SSO reverse dot blot. RESULTS: We documented increased frequencies of HLA-DRB1*0301, DRB1*1101, DRB1*0701, DRB1*1402, DQB1*0302, and DQB1*0301; however, none of them were significantly different from normal control subjects. Haplotype analysis showed that the HLA-DRB1*0407-DQB1*0302 haplotype is significantly increased in patients compared with control subjects (P = .0001). CONCLUSIONS: The haplotype HLA-DRB1*0407-DQB1*0302 is common among Mexican mestizo (haplotype frequency = 0.102), and it was increased in our patients (haplotype frequency = 0.259, P = .0001). This may reflect an independent association of this haplotype with the disease as the result of linkage disequilibrium or the influence of a neighboring gene. The pathophysiology of this illness is uncertain, and further studies are needed regarding the genetic susceptibility to develop primary open-angle glaucoma.
Subject(s)
Genetic Predisposition to Disease , Glaucoma, Open-Angle/ethnology , Glaucoma, Open-Angle/genetics , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Alleles , Case-Control Studies , Cross-Sectional Studies , DNA/analysis , Gene Frequency , HLA-DQ beta-Chains , HLA-DRB1 Chains , Haplotypes , Humans , Mexico/ethnology , Polymorphism, GeneticABSTRACT
Cervical carcinoma is the most common neoplasia in Mexican women. Previous studies report association of this neoplasia with the major histocompatibility complex (MHC) antigens in Caucasians. In the present study, we compared antigen frequencies of class I and class II MHC phenotypes in patients and ethnically matched healthy controls. Patients had significantly increased frequencies of HLA-A2 (PC = .000003) and HLA-DR5 (PC = .01) as compared with healthy controls. Conversely, we found a significant decrease of HLA-DR6 (PC = .01), HLA-DR2 (PC = .0005) and HLA-DR1 (PC = .0009) as compared with healthy controls. These results confirm some previous studies on HLA-associations with cervical carcinoma and reinforce the theory of independent mechanisms of MHC class I and class II genes in the etiopathogenesis of this disease.
Subject(s)
Carcinoma, Squamous Cell/genetics , Uterine Cervical Neoplasms/genetics , Adult , Aged , Alleles , Female , Genes, MHC Class I/genetics , Genes, MHC Class II/genetics , Genetic Predisposition to Disease , Humans , Mexico , Middle AgedABSTRACT
The major histocompatibility complex (MHC) genes are highly polymorphic and therefore have been useful in population genetics and disease association studies. We analyzed restriction fragment length polymorphism of HSP70-2 alleles in healthy unrelated Mestizo, Mazatecan and Nahua populations. Both Indian groups, Mazatecans and Nahuas, were in Hardy-Weinberg equilibrium, while Mestizos were in disequilibrium (chi 2 = 0.399; P < 0.05). The Mazatecan Indians presented a high frequency of BB homozygosity (17.35%) compared to Mestizos (5%) (P = 0.01). Mexican ethnic groups present differences in distribution of BB genotype. The low frequency of BB genotype in Mestizos may be the result of a negative selection process.
Subject(s)
Alleles , HSP70 Heat-Shock Proteins/genetics , Ethnicity/genetics , Gene Frequency , Genotype , Homozygote , Humans , Mexico , Polymorphism, Restriction Fragment LengthABSTRACT
We studied Major Histocompatibility Complex (MHC) Class I and Class II genes in seven Mexican Mestizo patients with Takayasu arteritis. Takayasu arteritis is an uncommon condition in Mexican Mestizo, however, previous studies report association of the disease in this population with Human Leukocyte Antigen (HLA)-B39 and HLA-DRB1*1301. The results in the present study show that the haplotypes of the Mexican Mestizo patients with Takayasu arteritis are very heterogeneous, even when the disease is much more rare in Mexico than in Japan. The sequence analysis of HLA-B39 shows that Mexican patients exhibit the HLA-B*39061 and HLA-B*39062 subtypes. These subtypes are more common in Mexico than in Japan, where the predominant subtype is HLA-B*3901. Interestingly, HLA-B*39061 and B-39062 share the 3' end of intron 2 and the 5' end of exon 3 with HLA-B*5101 and B*52012, alleles associated to Takayasu arteritis in Japanese. This fact suggests that Takayasu arteritis patients may share a specific sequence rather than a specific allele, even when the gene involved in the susceptibility to develop Takayasu arteritis may be a neighboring gene located between the genes related at present time with the disease, i.e. a gene located between MHC Class I and Class II regions.
