PMID- 28834219 OWN - NLM STAT- MEDLINE DCOM- 20180625 LR - 20180625 IS - 1744-313X (Electronic) IS - 1744-3121 (Linking) VI - 44 IP - 6 DP - 2017 Dec TI - Human leucocyte antigens class II allele and haplotype association with Type 1 Diabetes in Madeira Island (Portugal). PG - 305-313 LID - 10.1111/iji.12335 [doi] AB - 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). CI - (c) 2017 John Wiley & Sons Ltd. FAU - Spinola, H AU - Spinola H AUID- ORCID: 0000-0002-6455-1595 AD - Human Genetics Laboratory, University of Madeira, Funchal, Portugal. FAU - Lemos, A AU - Lemos A AD - Human Genetics Laboratory, University of Madeira, Funchal, Portugal. FAU - Couto, A R AU - Couto AR AD - SEEBMO, Hospital Santo Espirito de Angra do Heroismo, Azores, Portugal. AD - Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. FAU - Parreira, B AU - Parreira B AD - SEEBMO, Hospital Santo Espirito de Angra do Heroismo, Azores, Portugal. AD - Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. FAU - Soares, M AU - Soares M AD - SEEBMO, Hospital Santo Espirito de Angra do Heroismo, Azores, Portugal. AD - Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. FAU - Dutra, I AU - Dutra I AD - SEEBMO, Hospital Santo Espirito de Angra do Heroismo, Azores, Portugal. AD - Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. FAU - Bruges-Armas, J AU - Bruges-Armas J AD - SEEBMO, Hospital Santo Espirito de Angra do Heroismo, Azores, Portugal. AD - Institute for Molecular and Cell Biology (IBMC), Porto, Portugal. FAU - Brehm, A AU - Brehm A AD - Human Genetics Laboratory, University of Madeira, Funchal, Portugal. FAU - Abreu, S AU - Abreu S AD - Endocrinology Service, Hospital Central do Funchal, Funchal, Portugal. LA - eng PT - Journal Article DEP - 20170820 PL - England TA - Int J Immunogenet JT - International journal of immunogenetics JID - 101232337 RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - *Alleles MH - Diabetes Mellitus, Type 1/*genetics MH - Female MH - Haplotypes/*genetics MH - Histocompatibility Antigens Class II/*genetics MH - Humans MH - Islands MH - Linkage Disequilibrium/genetics MH - Male MH - Portugal OTO - NOTNLM OT - HLA-DQA1 OT - HLA-DQB1 OT - Madeira Island OT - Portugal OT - type 1 diabetes EDAT- 2017/08/24 06:00 MHDA- 2018/06/26 06:00 CRDT- 2017/08/24 06:00 PHST- 2017/01/17 00:00 [received] PHST- 2017/05/12 00:00 [revised] PHST- 2017/07/20 00:00 [accepted] PHST- 2017/08/24 06:00 [pubmed] PHST- 2018/06/26 06:00 [medline] PHST- 2017/08/24 06:00 [entrez] AID - 10.1111/iji.12335 [doi] PST - ppublish SO - Int J Immunogenet. 2017 Dec;44(6):305-313. doi: 10.1111/iji.12335. Epub 2017 Aug 20.