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Biomédica
Print version ISSN 0120-4157
Abstract
SARRAZOLA, Diana Clobeth et al. Classical HLA alleles tag SNP in families from Antioquia with type 1 diabetes mellitus. Biomédica [online]. 2018, vol.38, n.3, pp.329-337. ISSN 0120-4157. https://doi.org/10.7705/biomedica.v38i3.3768.
Introduction:
The HLA region strongly associates with autoimmune diseases, such as type 1 diabetes. An alternative way to test classical HLA alleles is by using tag SNP. A set of tag SNP for several classical HLA alleles has been reported as associated with susceptibility or resistance to this disease in Europeans.
Objective:
We aimed at validating the methodology based on tag SNP focused on the inference of classical HLA alleles, and at evaluating their association with type 1 diabetes mellitus in a sample of 200 families from Antioquia.
Materials and methods:
We studied a sample of 200 families from Antioquia. Each family had one or two children with T1D. We genotyped 13 SNPs using tetra-primer ARMS-PCR or PCRRFLP. In addition, we tested the validity of the tag SNP reported for Europeans in 60 individuals from a population of Colombians living in Medellín (CLM) from the 1000 Genomes Project database. Statistical analyses included the Hardy-Weinberg equilibrium, the transmission disequilibrium and the linkage disequilibrium tests.
Results:
The linkage disequilibrium was low in reported tag SNP and classical HLA alleles in this CLM population. Association analyses revealed both risk and protection factors to develop type 1 diabetes mellitus. Appropriate tag SNPs for the CLM population were determined by using the genotype information available in the 1000 Genome Project database.
Conclusions:
Although linkage disequilibrium patterns in this CLM population were different from those reported in Europeans, we did find strong evidence of the role of HLA in the development of type 1 diabetes mellitus in the study population.
Keywords : Diabetes mellitus, type 1; major histocompatibility complex; linkage disequilibrium; autoimmune diseases.