Evidence map›Paper›PMID 28262800›Full record

ArticleScientific reports2017

The influence of population stratification on genetic markers associated with type 1 diabetes.

Karla Fabiana Brasil Gomes, Aritânia Sousa Santos, Cintia Semzezem, Márcia Regina Correia, Luciano Abreu Brito, Marcelo Ortega Ruiz, Rosa Tsuneshiro Fukui, Sergio Russo Matioli, Maria Rita Passos-Bueno, Maria Elizabeth Rossi da Silva

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.

  1. Pooled it
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  18. Population Stratification in Genetic Association Studies.Current protocols in human genetics · 2017
    Review
  19. Increased Expression of Plasma-Induced ABCC1 mRNA in Cystic Fibrosis.International journal of molecular sciences · 2017
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Karla Fabiana Brasil GomesLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Aritânia Sousa SantosLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Cintia SemzezemLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Márcia Regina CorreiaLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Luciano Abreu BritoDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências da Universidade de São Paulo. Rua do Matão, 277, 05422-970, São Paulo, São Paulo, Brazil.
Marcelo Ortega RuizLaboratório de Imunologia, Rua Claudio Manoel da Costa, 270, Marília, São Paulo, Brazil.
Rosa Tsuneshiro FukuiLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Sergio Russo MatioliDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências da Universidade de São Paulo. Rua do Matão, 277, 05422-970, São Paulo, São Paulo, Brazil.
Maria Rita Passos-BuenoDepartamento de Genética e Biologia Evolutiva, Instituto de Biociências da Universidade de São Paulo. Rua do Matão, 277, 05422-970, São Paulo, São Paulo, Brazil.
Maria Elizabeth Rossi da SilvaLaboratório de Carboidratos e Radioimunoensaio (LIM-18) do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. Av. Dr. Arnaldo, 455, sala 3324, 01246-903, São Paulo, São Paulo, Brazil.
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRUniversidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ethnic admixtures may interfere with the definition of type 1 diabetes (T1D) risk determinants. The role of HLA, PTPN22, INS-VNTR, and CTLA4 in T1D predisposition was analyzed in Brazilian T1D patients (n = 915), with 81.7% self-reporting as white and 789 controls (65.6% white). The results were corrected for population stratification by genotyping 93 ancestry informative markers (AIMs) (BeadXpress platform). Ancestry composition and structural association were characterized using Structure 2.3 and STRAT. Ethnic diversity resulted in T1D determinants that were partially discordant from those reported in Caucasians and Africans. The greatest contributor to T1D was the HLA-DR3/DR4 genotype (OR = 16.5) in 23.9% of the patients, followed by -DR3/DR3 (OR = 8.9) in 8.7%, -DR4/DR4 (OR = 4.7) in 6.0% and -DR3/DR9 (OR = 4.9) in 2.6%. Correction by ancestry also confirmed that the DRB1*09-DQB1*0202 haplotype conferred susceptibility, whereas the DRB1*07-DQB1*0202 and DRB1*11-DQB1*0602 haplotypes were protective, which is similar to reports in African-American patients. By contrast, the DRB1*07-DQB1*0201 haplotype was protective in our population and in Europeans, despite conferring susceptibility to Africans. The DRB1*10-DQB1*0501 haplotype was only protective in the Brazilian population. Predisposition to T1D conferred by PTPN22 and INS-VNTR and protection against T1D conferred by the DRB1*16 allele were confirmed. Correcting for population structure is important to clarify the particular genetic variants that confer susceptibility/protection for T1D in populations with ethnic admixtures.

Indexed as

Genetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseAdolescentAdultAllelesCase-Control StudiesChildDiabetes Mellitus, Type 1FemaleGene FrequencyGenotypeHLA AntigensHumansMaleOdds RatioGenetic MarkersHLA Antigens

Identifiers

PMID28262800
PMCPMC5338024
OpenAlexW2591980354

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.