Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden
Abstract Background T1D 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 g...
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ftdatacite:10.6084/m9.figshare.c.3638597 2023-05-15T17:44:23+02:00 Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden Holmberg, Dan Ruikka, Karin Lindgren, Petter Eliasson, Mats Mayans, Sofia 2016 https://dx.doi.org/10.6084/m9.figshare.c.3638597 https://figshare.com/collections/Association_of_CD247_CD3_gene_polymorphisms_with_T1D_and_AITD_in_the_population_of_northern_Sweden/3638597 unknown Figshare https://dx.doi.org/10.1186/s12881-016-0333-z CC BY 4.0 https://creativecommons.org/licenses/by/4.0 CC-BY Genetics FOS Biological sciences 59999 Environmental Sciences not elsewhere classified FOS Earth and related environmental sciences Sociology FOS Sociology Immunology FOS Clinical medicine 69999 Biological Sciences not elsewhere classified 19999 Mathematical Sciences not elsewhere classified FOS Mathematics Cancer Collection article 2016 ftdatacite https://doi.org/10.6084/m9.figshare.c.3638597 https://doi.org/10.1186/s12881-016-0333-z 2021-11-05T12:55:41Z Abstract Background T1D 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. Methods DNA 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. Results Our 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. Conclusions Several 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. Article in Journal/Newspaper Northern Sweden DataCite Metadata Store (German National Library of Science and Technology) |
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Open Polar |
collection |
DataCite Metadata Store (German National Library of Science and Technology) |
op_collection_id |
ftdatacite |
language |
unknown |
topic |
Genetics FOS Biological sciences 59999 Environmental Sciences not elsewhere classified FOS Earth and related environmental sciences Sociology FOS Sociology Immunology FOS Clinical medicine 69999 Biological Sciences not elsewhere classified 19999 Mathematical Sciences not elsewhere classified FOS Mathematics Cancer |
spellingShingle |
Genetics FOS Biological sciences 59999 Environmental Sciences not elsewhere classified FOS Earth and related environmental sciences Sociology FOS Sociology Immunology FOS Clinical medicine 69999 Biological Sciences not elsewhere classified 19999 Mathematical Sciences not elsewhere classified FOS Mathematics Cancer Holmberg, Dan Ruikka, Karin Lindgren, Petter Eliasson, Mats Mayans, Sofia Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
topic_facet |
Genetics FOS Biological sciences 59999 Environmental Sciences not elsewhere classified FOS Earth and related environmental sciences Sociology FOS Sociology Immunology FOS Clinical medicine 69999 Biological Sciences not elsewhere classified 19999 Mathematical Sciences not elsewhere classified FOS Mathematics Cancer |
description |
Abstract Background T1D 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. Methods DNA 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. Results Our 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. Conclusions Several 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. |
format |
Article in Journal/Newspaper |
author |
Holmberg, Dan Ruikka, Karin Lindgren, Petter Eliasson, Mats Mayans, Sofia |
author_facet |
Holmberg, Dan Ruikka, Karin Lindgren, Petter Eliasson, Mats Mayans, Sofia |
author_sort |
Holmberg, Dan |
title |
Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
title_short |
Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
title_full |
Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
title_fullStr |
Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
title_full_unstemmed |
Association of CD247 (CD3Îś) gene polymorphisms with T1D and AITD in the population of northern Sweden |
title_sort |
association of cd247 (cd3îś) gene polymorphisms with t1d and aitd in the population of northern sweden |
publisher |
Figshare |
publishDate |
2016 |
url |
https://dx.doi.org/10.6084/m9.figshare.c.3638597 https://figshare.com/collections/Association_of_CD247_CD3_gene_polymorphisms_with_T1D_and_AITD_in_the_population_of_northern_Sweden/3638597 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
https://dx.doi.org/10.1186/s12881-016-0333-z |
op_rights |
CC BY 4.0 https://creativecommons.org/licenses/by/4.0 |
op_rightsnorm |
CC-BY |
op_doi |
https://doi.org/10.6084/m9.figshare.c.3638597 https://doi.org/10.1186/s12881-016-0333-z |
_version_ |
1766146594570240000 |