The association between the HLA-G 14-bp insertion/deletion polymorphism and type 1 diabetes


Type 1 diabetes (T1D) is a multifactorial disease that has a strong genetic component. The HLA-G is a nonclassical HLA class I locus that is associated with immunomodulatory functions, including downregulation of innate and adaptive immune responses and induction of immune tolerance. However, there is currently limited information about the involvement of HLA-G in T1D susceptibility. This case-control study aims to investigate the T1D susceptibility association of alleles and genotypes of a widely investigated 14-bp insertion/deletion polymorphism in the HLA-G and to provide further evidence of the frequency distribution of class II HLA-DR-DQ-risk genotypes in T1D children and adolescents in the Brazilian population. The deletion allele and the homozygous deletion genotype are associated with susceptibility to T1D and the insertion allele and the heterozygous deletion/insertion genotype are associated with protection from T1D. We also confirm that genetic susceptibility to T1D is associated with the DRB1*03:01-DQA1*05:01-DQB1*02:01 and DRB1*04-DQA1*03:01-DQB1*03:02 haplotypes in Brazilian northeast region. The DR3-DQ2/DR4-DQ8 genotype conferred the highest detected risk for T1D. Our results identify a novel association of the 14-bp deletion allele and the homozygous deletion genotype with T1D development and provide additional evidence of the importance of HLA class II heterozygous DR3-DQ2/DR4-DQ8 genotype in T1D susceptibility.

DOI: 10.1038/gene.2015.45

Cite this paper

@article{Silva2016TheAB, title={The association between the HLA-G 14-bp insertion/deletion polymorphism and type 1 diabetes}, author={Henriqueta Silva and Marcela Abbott Galv{\~a}o Ururahy and Kau{\^e} F. C. S. Souza and Marta Bruno Loureiro and Yonara Monique da Costa Oliveira and Guilherme H M Oliveira and Andr{\'e} Ducati Luchessi and Kele T C Carvalho and J{\^o}sie Cloviane de Oliveira Freitas and Eduardo Ant{\^o}nio Donadi and Rosario Dominguez Crespo Hirata and Maria das Graças {\'A}vila Ribeiro de Almeida and Ricardo Fernando Arrais and M{\'a}rio Hiroyuki Hirata and Adriana Augusto de Rezende}, journal={Genes and Immunity}, year={2016}, volume={17}, pages={13-18} }