Classical HLA alleles tag SNP in families from Antioquia with type 1 diabetes mellitus

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 disea...

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Bibliographic Details
Published in:Biomédica
Main Authors: Diana Clobeth Sarrazola, Alejandra Marcela Rodríguez, Martín Toro, Alejandra Vélez, Jorge García-Ramírez, María Victoria Lopera, Cristiam M. Álvarez, Vital Balthazar González †, Juan Manuel Alfaro, Nicolás Pineda-Trujillo
Format: Article in Journal/Newspaper
Language:English
Spanish
Published: Instituto Nacional de Salud 2018
Subjects:
diabetes mellitus de tipo 1
complejo mayor de histocompatibilidad
desequilibrio de ligamiento
enfermedades autoinmunitarias
Medicine
R
Arctic medicine. Tropical medicine
RC955-962
Arctic
Online Access:https://doi.org/10.7705/biomedica.v38i3.3768
https://doaj.org/article/390de5ec57ec4c29860a50a65c11b6a6
Description
Summary: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.

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