Evidence map›Paper›PMID 38318503›Full record

ArticleFrontiers in immunology2023

The rare DRB1*04:08-DQ8 haplotype is the main HLA class II genetic driver and discriminative factor of Early-onset Type 1 diabetes in the Portuguese population.

Iris Caramalho, Paula Matoso, Dário Ligeiro, Tiago Paixão, Daniel Sobral, Ana Laura Fitas, Catarina Limbert, Jocelyne Demengeot, Carlos Penha-Gonçalves

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Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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0cells of the map it votes in
5citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Iris CaramalhoInstituto Gulbenkian de Ciência, Oeiras, Portugal.
Paula MatosoInstituto Gulbenkian de Ciência, Oeiras, Portugal.
Dário LigeiroCentro de Sangue e Transplantação de Lisboa, Instituto Português do Sangue e Transplantação, Unidade de Imunocirurgia e Imunoterapia, Fundação Champalimaud, Lisboa, Portugal.
Tiago PaixãoInstituto Gulbenkian de Ciência, Oeiras, Portugal.
Daniel SobralInstituto Gulbenkian de Ciência, Oeiras, Portugal.
Ana Laura FitasPediatric Endocrinology Unit, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central (CHULC)/Nova Medical School, Lisbon, Portugal.
Catarina LimbertPediatric Endocrinology Unit, Hospital de Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central (CHULC)/Nova Medical School, Lisbon, Portugal.
Jocelyne DemengeotInstituto Gulbenkian de Ciência, Oeiras, Portugal.
Carlos Penha-GonçalvesInstituto Gulbenkian de Ciência, Oeiras, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Early-onset Type 1 diabetes (EOT1D) is considered a disease subtype with distinctive immunological and clinical features. While both Human Leukocyte Antigen (HLA) and non-HLA variants contribute to age at T1D diagnosis, detailed analyses of EOT1D-specific genetic determinants are still lacking. This study scrutinized the involvement of the HLA class II locus in EOT1D genetic control. Methods: We conducted genetic association and regularized logistic regression analyses to evaluate genotypic, haplotypic and allelic variants in DRB1, DQA1 and DQB1 genes in children with EOT1D (diagnosed at ≤5 years of age; n=97), individuals with later-onset disease (LaOT1D; diagnosed 8-30 years of age; n=96) and nondiabetic control subjects (n=169), in the Portuguese population. Results: Allelic association analysis of EOT1D and LaOT1D unrelated patients in comparison with controls, revealed that the rare DRB1*04:08 allele is a distinctive EOT1D susceptibility factor (corrected p-value=7.0x10 Discussion: This study uncovered that EOT1D holds a distinctive spectrum of HLA class II susceptibility

Indexed as

Diabetes Mellitus, Type 1HLA-DRB1 ChainsAdolescentAdultChildGene FrequencyGenetic Predisposition to DiseaseHaplotypesHistocompatibility Antigens Class IHistocompatibility Antigens Class IIHumansPortugalYoung AdultHistocompatibility Antigens Class IHistocompatibility Antigens Class IIHLA-DRB1 Chainsage of onsetEarly-onset Type 1 diabetesHLA class IIT1D endotypesType 1 diabetes

Identifiers

PMID38318503
PMCPMC10839680

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.