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Couto, Ana Rita

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FF1A-6A4C-75C9
0000-0002-3600-2812

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20172
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Subject: HLA‐DQA1 ×

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  • HLA-DQA1 and HLA-DQB1 allele diversity and its extended haplotypes in Madeira Island (Portugal)
    Publication . Spínola, H.; Lemos, A.; Couto, A. R.; Parreira, B.; Soares, M.; Dutra, I.; Bruges-Armas, J.; Brehm, A.
    This study shows, for the first time, high-resolution allele frequencies of HLA-DQA1 loci in Madeira Island (Portugal) and allows us to better understand and refine present knowledge on DQB1 variation, with the identification of several alleles not previously reported in this population. Estimates on haplotype profile, involving HLA-A, HLA-B, HLADRB1, HLA-DQA1 and HLA-DQB1, are also reported.
    2017Journal article Restricted access Show more
  • Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal)
    Publication . Spínola, H.; Lemos, A.; Couto, A. R.; Parreira, A.; Soares, M.; Dutra, I.; Bruges-Armas, J.; Brehm, A.; Abreu, S.
    This study confirms for Madeira Island (Portugal) population the Type 1 Diabetes (T1D) susceptible and protective Human leucocyte antigens (HLA) markers previously reported in other populations and adds some local specificities. Among the strongest T1D HLA associations, stands out, as susceptible, the alleles DRB1*04:05 (OR = 7.3), DQB1*03:02 (OR = 6.1) and DQA1*03:03 (OR = 4.5), as well as the haplotypes DRB1*04:05- DQA1*03:03- DQB1*03:02 (OR = 100.9) and DRB1*04:04- DQA1*03:01- DQB1*03:02 (OR = 22.1), and DQB1*06:02 (OR = 0.07) and DRB1*15:01- DQA1*01:02- DQB1*06:02 (OR = 0.04) as protective. HLA- DQA1 positive for Arginine at position 52 (Arg52) (OR = 15.2) and HLA- DQB1 negative for Aspartic acid at the position 57 (Asp57) (OR = 9.0) alleles appear to be important genetic markers for T1D susceptibility, with higher odds ratio values than any single allele and than most of the haplotypes. Genotypes generated by the association of markers Arg52 DQA1 positive and Asp57 DQB1 negative increase T1D susceptibility much more than one would expected by a simple additive effect of those markers separately (OR = 26.9). This study also confirms an increased risk for DRB1*04/DRB1*03 heterozygote genotypes (OR = 16.8) and also a DRB1*04- DQA1*03:01- DQB1*03:02 haplotype susceptibility dependent on the DRB1*04 allele (DRB1*04:01, OR = 7.9; DRB1*04:02, OR = 3.2; DRB1*04:04, OR = 22.1).
    2017Journal article Restricted access Show more