Evidence map›Paper›PMID 27716086›Full record

ArticleBMC medical genetics2016

Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden.

Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson, Sofia Mayans

Open access · goldAbstract read
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Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact, top 91% 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

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Dan HolmbergDepartment of Medical Biosciences - Medical Genetics, Umeå University, SE-901 85, Umeå, Sweden.
Karin RuikkaDepartment of Medicine, Sunderby Hospital, SE-971 80, Luleå, Sweden.
Petter LindgrenDepartment of Medical Biosciences - Medical Genetics, Umeå University, SE-901 85, Umeå, Sweden.
Mats EliassonDepartment of Medicine, Sunderby Hospital, SE-971 80, Luleå, Sweden.
Sofia MayansDepartment of Medical Biosciences - Medical Genetics, Umeå University, SE-901 85, Umeå, Sweden. sofia.mayans@umu.se.
Umeå University · SESunderby sjukhus · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundT1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes very challenging. The general aim of this study was to identify loci and genes contributing to T1D/AITD susceptibility. Our strategy was to perform linkage and association studies in the relatively genetically homogenous population of northern Sweden. We performed a GWLS to find genomic regions linked to T1D/AITD in families from northern Sweden and we performed an association study in the families to test for association between T1D/AITD and variants in previously published candidate genes as well as a novel candidate gene, CD247.

methodsDNA prepared from 459 individuals was used to perform a linkage and an association study. The ABI PRISM Linkage Mapping Set v2.5MD10 was employed for an initial 10-cM GWLS, and additional markers were added for fine mapping. Merlin was used for linkage calculations. For the association analysis, a GoldenGate Custom Panel from Illumina containing 79 SNPs of interest was used and FBAT was used for association calculations.

resultsOur study revealed linkage to two previously identified chromosomal regions, 4q25 and 6p22, as well as to a novel chromosomal region, 1q23. The association study replicated association to PTPN22, HLA-DRB1, INS, IFIH1, CTLA4 and C12orf30. Evidence in favor of association was also found for SNPs in the novel susceptibility gene CD247.

conclusionsSeveral risk loci for T1D/AITD identified in published association studies were replicated in a family material, of modest size, from northern Sweden. This provides evidence that these loci confer disease susceptibility in this population and emphasizes that small to intermediate sized family studies in this population can be used in a cost-effective manner for the search of genes involved in complex diseases. The linkage study revealed a chromosomal region in which a novel T1D/AITD susceptibility gene, CD247, is located. The association study showed association between T1D/AITD and several variants in this gene. These results suggests that common susceptibility genes act in concert with variants of CD247 to generate genetic risk for T1D/AITD in this population.

Indexed as

Polymorphism, Single NucleotideCD3 ComplexDiabetes Mellitus, Type 1Genetic Association StudiesGenetic LinkageGenetic Predisposition to DiseaseHumansSequence Analysis, DNASwedenThyroiditis, AutoimmuneWhite PeopleCD3 antigen, zeta chainCD3 ComplexAssociationAutoimmune thyroid diseaseFamilyLinkageType 1 diabetes

Identifiers

PMID27716086
PMCPMC5050583
OpenAlexW2528973747

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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.