Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study
A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3? chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3? are not well established and require replication in indepe...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2015
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/24137
- Acceso en línea:
- https://doi.org/10.1038/gene.2014.73
https://repository.urosario.edu.co/handle/10336/24137
- Palabra clave:
- CD247 antigen
T lymphocyte antigen
Unclassified drug
CD3 antigen
Adult
African
American Indian
Article
Asian
Chromosome 1
Controlled study
Ethnic difference
European
Female
Gene frequency
Gene locus
Genetic association
Genetic model
Genetic variability
Genotype
Haplotype
Haplotype map
Heterozygosity
Hispanic
Human
Immunopathogenesis
Major clinical study
Male
Molecular pathology
Priority journal
Single nucleotide polymorphism
Systemic lupus erythematosus
Asian continental ancestry group
Case control study
Caucasian
Ethnology
Genetic association study
Genetic predisposition
Genetics
Immunology
Single nucleotide polymorphism
Systemic lupus erythematosus
T lymphocyte
Adult
Asian Continental Ancestry Group
Case-Control Studies
European Continental Ancestry Group
Female
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes
Humans
Male
T-Lymphocytes
CD3
Single Nucleotide
zeta chain
Systemic
CD3 antigen
Antigens
Lupus Erythematosus
Polymorphism
- Rights
- License
- Abierto (Texto Completo)
id |
EDOCUR2_44854428cec1b668056a357b6ef25d81 |
---|---|
oai_identifier_str |
oai:repository.urosario.edu.co:10336/24137 |
network_acronym_str |
EDOCUR2 |
network_name_str |
Repositorio EdocUR - U. Rosario |
repository_id_str |
|
dc.title.spa.fl_str_mv |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
title |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
spellingShingle |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study CD247 antigen T lymphocyte antigen Unclassified drug CD3 antigen Adult African American Indian Article Asian Chromosome 1 Controlled study Ethnic difference European Female Gene frequency Gene locus Genetic association Genetic model Genetic variability Genotype Haplotype Haplotype map Heterozygosity Hispanic Human Immunopathogenesis Major clinical study Male Molecular pathology Priority journal Single nucleotide polymorphism Systemic lupus erythematosus Asian continental ancestry group Case control study Caucasian Ethnology Genetic association study Genetic predisposition Genetics Immunology Single nucleotide polymorphism Systemic lupus erythematosus T lymphocyte Adult Asian Continental Ancestry Group Case-Control Studies European Continental Ancestry Group Female Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Male T-Lymphocytes CD3 Single Nucleotide zeta chain Systemic CD3 antigen Antigens Lupus Erythematosus Polymorphism |
title_short |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
title_full |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
title_fullStr |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
title_full_unstemmed |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
title_sort |
Genetic association of CD247 (CD3?) with SLE in a large-scale multiethnic study |
dc.subject.keyword.spa.fl_str_mv |
CD247 antigen T lymphocyte antigen Unclassified drug CD3 antigen Adult African American Indian Article Asian Chromosome 1 Controlled study Ethnic difference European Female Gene frequency Gene locus Genetic association Genetic model Genetic variability Genotype Haplotype Haplotype map Heterozygosity Hispanic Human Immunopathogenesis Major clinical study Male Molecular pathology Priority journal Single nucleotide polymorphism Systemic lupus erythematosus Asian continental ancestry group Case control study Caucasian Ethnology Genetic association study Genetic predisposition Genetics Immunology Single nucleotide polymorphism Systemic lupus erythematosus T lymphocyte Adult Asian Continental Ancestry Group Case-Control Studies European Continental Ancestry Group Female Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Male T-Lymphocytes |
topic |
CD247 antigen T lymphocyte antigen Unclassified drug CD3 antigen Adult African American Indian Article Asian Chromosome 1 Controlled study Ethnic difference European Female Gene frequency Gene locus Genetic association Genetic model Genetic variability Genotype Haplotype Haplotype map Heterozygosity Hispanic Human Immunopathogenesis Major clinical study Male Molecular pathology Priority journal Single nucleotide polymorphism Systemic lupus erythematosus Asian continental ancestry group Case control study Caucasian Ethnology Genetic association study Genetic predisposition Genetics Immunology Single nucleotide polymorphism Systemic lupus erythematosus T lymphocyte Adult Asian Continental Ancestry Group Case-Control Studies European Continental Ancestry Group Female Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Male T-Lymphocytes CD3 Single Nucleotide zeta chain Systemic CD3 antigen Antigens Lupus Erythematosus Polymorphism |
dc.subject.keyword.eng.fl_str_mv |
CD3 Single Nucleotide zeta chain Systemic CD3 antigen Antigens Lupus Erythematosus Polymorphism |
description |
A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3? chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3? are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multiethnic population. We typed 44 contiguous CD247 single-nucleotide polymorphisms (SNPs) in 8922 SLE patients and 8077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99 × 10-4 less than P less than 4.15 × 10-2), where we further identified a five-marker haplotype (rs12141731-rs2949655-rs16859085-rs12144621-rs858554; G-G-A-G-A; P less than inf>hap less than /inf> = 2.12 × 10-5) that exceeded the most associated single SNP rs858554 (minor allele frequency in controls=13%; P=4.99 × 10-4, odds ratio=1.32) in significance. Imputation and subsequent association analysis showed evidence of association (P less than 0.05) at 27 additional SNPs within intron 1. Cross-ethnic meta-analysis, assuming an additive genetic model adjusted for population proportions, showed five SNPs with significant P-values (1.40 × 10-3 less than P less than 3.97 × 10-2), with one (rs704848) remaining significant after Bonferroni correction (P less than inf>meta less than /inf> =2.66 × 10-2). Our study independently confirms and extends the association of SLE with CD247, which is shared by various autoimmune disorders and supports a common T-cell-mediated mechanism. © 2015 Macmillan Publishers Limited. |
publishDate |
2015 |
dc.date.created.spa.fl_str_mv |
2015 |
dc.date.accessioned.none.fl_str_mv |
2020-05-26T00:09:06Z |
dc.date.available.none.fl_str_mv |
2020-05-26T00:09:06Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1038/gene.2014.73 |
dc.identifier.issn.none.fl_str_mv |
14664879 14765470 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/24137 |
url |
https://doi.org/10.1038/gene.2014.73 https://repository.urosario.edu.co/handle/10336/24137 |
identifier_str_mv |
14664879 14765470 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationEndPage.none.fl_str_mv |
150 |
dc.relation.citationIssue.none.fl_str_mv |
No. 2 |
dc.relation.citationStartPage.none.fl_str_mv |
142 |
dc.relation.citationTitle.none.fl_str_mv |
Genes and Immunity |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 16 |
dc.relation.ispartof.spa.fl_str_mv |
Genes and Immunity, ISSN:14664879, 14765470, Vol.16, No.2 (2015); pp. 142-150 |
dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-84938552405&doi=10.1038%2fgene.2014.73&partnerID=40&md5=43f256c80a96fdd4f209c9ea1a3c2690 |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
dc.format.mimetype.none.fl_str_mv |
application/pdf |
dc.publisher.spa.fl_str_mv |
Nature Publishing Group |
institution |
Universidad del Rosario |
dc.source.instname.spa.fl_str_mv |
instname:Universidad del Rosario |
dc.source.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional EdocUR |
bitstream.url.fl_str_mv |
https://repository.urosario.edu.co/bitstreams/ad49f285-a5f9-4f91-afe7-22b4163b4898/download https://repository.urosario.edu.co/bitstreams/5ae5a935-7d2d-4feb-9dea-122882333ba6/download https://repository.urosario.edu.co/bitstreams/47cf4c48-920b-40e3-b9f0-30765c826045/download |
bitstream.checksum.fl_str_mv |
b2b6c895054af8681650ed9006f63ad6 9fa04ed05d67ad55e3f9eaf2efde062a b11be084458dd461e63547d71d1a713f |
bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositorio institucional EdocUR |
repository.mail.fl_str_mv |
edocur@urosario.edu.co |
_version_ |
1814167664841457664 |
spelling |
a8966e56-8361-4a20-b955-2b4bad8dd3e6ec17c6b4-d87e-4257-9150-c11b987935dee6db3ab6-1fde-45e8-931b-9c1d96b06e652a5fba79-38f9-4dae-8fc0-08cb9231c9f72b653122-70a4-4a9d-b5d1-a84a763d96512c1a571c-3410-4f60-a580-17327c63a0aa91029669-0774-408d-8080-2f55385cfa7a2cba6083-ae07-45ca-b4e7-acf54e77995925992029-f040-4490-8273-14ecb1e009b2393735e4-3427-4cb8-ae89-7b4669887ae11d08f79e-e597-44e3-b91c-57e30236d45e201b2187-b1e6-4b1c-9ef1-7e90dae7be3a5885e67a-3d90-4e42-8e97-390c2f9a0470e6c8677e-63c3-4042-9f66-e3575ea204b26b85cf2a-2667-48fe-b54c-780b8cd5a9532c930b7c-478e-4b42-8f3f-0798087a555d194747786007909c29e-7822-412b-804c-5de6135b887776269604-8bf6-4b44-95a2-3c86bc21455ef450e7f9-7c08-45f6-9cad-e7761ad44689fbc70a5f-28ad-4b68-be00-1a9fdee565401d243878-89bc-4d25-b63a-5ef5db89d8e02d996a10-68c6-43a0-84dd-70cddf30e2c53d52c10a-5f2b-446f-8ea8-841bbfba494c28930fb6-f8e6-4aa5-bae2-9d484dcf92134b47116a-8b97-4cba-9b6a-0b1e66e40e51e5109ef5-94e9-40c7-8ba7-0fa61ed2fb806a898815-b7ed-4b63-9482-3d5e4ddfd8173abb7dff-57eb-4dc5-865d-00335072cbaefeb74d21-b8af-4c2f-a32d-b298302d0799e9b886df-1685-4254-a41a-be4a212a9ec0455295d1-8afd-48f0-b729-c9b5ba2e4bfd6ab79466-e43a-46b2-b6c5-9a5c954323265823308f-7040-4d76-b1e0-e6cb96d3bff7bf983735-1c14-4ba1-8c6f-f60e538df1572020-05-26T00:09:06Z2020-05-26T00:09:06Z2015A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3? chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3? are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multiethnic population. We typed 44 contiguous CD247 single-nucleotide polymorphisms (SNPs) in 8922 SLE patients and 8077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99 × 10-4 less than P less than 4.15 × 10-2), where we further identified a five-marker haplotype (rs12141731-rs2949655-rs16859085-rs12144621-rs858554; G-G-A-G-A; P less than inf>hap less than /inf> = 2.12 × 10-5) that exceeded the most associated single SNP rs858554 (minor allele frequency in controls=13%; P=4.99 × 10-4, odds ratio=1.32) in significance. Imputation and subsequent association analysis showed evidence of association (P less than 0.05) at 27 additional SNPs within intron 1. Cross-ethnic meta-analysis, assuming an additive genetic model adjusted for population proportions, showed five SNPs with significant P-values (1.40 × 10-3 less than P less than 3.97 × 10-2), with one (rs704848) remaining significant after Bonferroni correction (P less than inf>meta less than /inf> =2.66 × 10-2). Our study independently confirms and extends the association of SLE with CD247, which is shared by various autoimmune disorders and supports a common T-cell-mediated mechanism. © 2015 Macmillan Publishers Limited.application/pdfhttps://doi.org/10.1038/gene.2014.731466487914765470https://repository.urosario.edu.co/handle/10336/24137engNature Publishing Group150No. 2142Genes and ImmunityVol. 16Genes and Immunity, ISSN:14664879, 14765470, Vol.16, No.2 (2015); pp. 142-150https://www.scopus.com/inward/record.uri?eid=2-s2.0-84938552405&doi=10.1038%2fgene.2014.73&partnerID=40&md5=43f256c80a96fdd4f209c9ea1a3c2690Abierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURCD247 antigenT lymphocyte antigenUnclassified drugCD3 antigenAdultAfricanAmerican IndianArticleAsianChromosome 1Controlled studyEthnic differenceEuropeanFemaleGene frequencyGene locusGenetic associationGenetic modelGenetic variabilityGenotypeHaplotypeHaplotype mapHeterozygosityHispanicHumanImmunopathogenesisMajor clinical studyMaleMolecular pathologyPriority journalSingle nucleotide polymorphismSystemic lupus erythematosusAsian continental ancestry groupCase control studyCaucasianEthnologyGenetic association studyGenetic predispositionGeneticsImmunologySingle nucleotide polymorphismSystemic lupus erythematosusT lymphocyteAdultAsian Continental Ancestry GroupCase-Control StudiesEuropean Continental Ancestry GroupFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHaplotypesHumansMaleT-LymphocytesCD3Single Nucleotidezeta chainSystemicCD3 antigenAntigensLupus ErythematosusPolymorphismGenetic association of CD247 (CD3?) with SLE in a large-scale multiethnic studyarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Martins, MWilliams, A HComeau, MMarion, MZiegler, J TFreedman, B IMerrill, J TGlenn, S BKelly, J ASivils, K MJames, J AGuthridge, J MAlarcón-Riquelme, M EBae, S-CKim, J-HKim, DAnaya, Juan-ManuelBoackle, S ACriswell, L AKimberly, R PAlarcón, G SBrown, E EVilá, L MPetri, M ARamsey-Goldman, RNiewold, T BTsao, B PGilkeson, G SKamen, D LJacob, C OStevens, A MGaffney, P MHarley, J BLangefeld, C DFesel, CORIGINALgene201473.pdfapplication/pdf1434574https://repository.urosario.edu.co/bitstreams/ad49f285-a5f9-4f91-afe7-22b4163b4898/downloadb2b6c895054af8681650ed9006f63ad6MD51TEXTgene201473.pdf.txtgene201473.pdf.txtExtracted texttext/plain49948https://repository.urosario.edu.co/bitstreams/5ae5a935-7d2d-4feb-9dea-122882333ba6/download9fa04ed05d67ad55e3f9eaf2efde062aMD52THUMBNAILgene201473.pdf.jpggene201473.pdf.jpgGenerated Thumbnailimage/jpeg4809https://repository.urosario.edu.co/bitstreams/47cf4c48-920b-40e3-b9f0-30765c826045/downloadb11be084458dd461e63547d71d1a713fMD5310336/24137oai:repository.urosario.edu.co:10336/241372022-05-02 07:37:13.475654https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |