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Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population

A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polyme...

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Autores principales: Li, Yuan, Wu, Ziyan, Zhang, Shulan, Chen, Si, Li, Ping, Li, Jing, Cao, Chongwei, Liu, Bin, Zhang, Fengchun, Li, Yongzhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500405/
https://www.ncbi.nlm.nih.gov/pubmed/26167925
http://dx.doi.org/10.1371/journal.pone.0132556
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author Li, Yuan
Wu, Ziyan
Zhang, Shulan
Chen, Si
Li, Ping
Li, Jing
Cao, Chongwei
Liu, Bin
Zhang, Fengchun
Li, Yongzhe
author_facet Li, Yuan
Wu, Ziyan
Zhang, Shulan
Chen, Si
Li, Ping
Li, Jing
Cao, Chongwei
Liu, Bin
Zhang, Fengchun
Li, Yongzhe
author_sort Li, Yuan
collection PubMed
description A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polymerase β (POLB) SNPs and reduced POLB expression, and this was proposed to be an underlying cause of human SLE development. In the current case-control study, we evaluated IKBKB (rs12676482 and rs2272733) and POLB (rs3136717 and rs3136744) SNPs in 946 SLE patients and 961 healthy controls. We investigated the possible association of these four SNPs with SLE in a Chinese Han population using the polymerase chain reaction-ligation detection reaction (PCR-LDR) technique. The differences in the frequencies of the four SNP alleles and the genotypes and haplotypes of the POLB polymorphisms were statistically insignificant when the SLE patients were compared with the controls in the Chinese Han population enrolled in this study (all, p ˃ 0.05). Furthermore, no associations were detected using different genetic models (additive, dominant, and recessive; all, p ˃ 0.05). Our findings indicate that the IKBKB (rs12676482 and rs2272733) and POLB (rs3136717, rs3136744) SNPs confer no genetic predisposition to SLE risk in this Chinese Han population.
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spelling pubmed-45004052015-07-17 Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population Li, Yuan Wu, Ziyan Zhang, Shulan Chen, Si Li, Ping Li, Jing Cao, Chongwei Liu, Bin Zhang, Fengchun Li, Yongzhe PLoS One Research Article A previous large-scale replication study validation of a genome wide association study (GWAS) identified IκB kinase β (IKBKB) single nucleotide polymorphisms (SNPs) as a risk factor associated with systemic lupus erythematosus (SLE) in a Chinese Han population. IKBKB SNPs were associated with polymerase β (POLB) SNPs and reduced POLB expression, and this was proposed to be an underlying cause of human SLE development. In the current case-control study, we evaluated IKBKB (rs12676482 and rs2272733) and POLB (rs3136717 and rs3136744) SNPs in 946 SLE patients and 961 healthy controls. We investigated the possible association of these four SNPs with SLE in a Chinese Han population using the polymerase chain reaction-ligation detection reaction (PCR-LDR) technique. The differences in the frequencies of the four SNP alleles and the genotypes and haplotypes of the POLB polymorphisms were statistically insignificant when the SLE patients were compared with the controls in the Chinese Han population enrolled in this study (all, p ˃ 0.05). Furthermore, no associations were detected using different genetic models (additive, dominant, and recessive; all, p ˃ 0.05). Our findings indicate that the IKBKB (rs12676482 and rs2272733) and POLB (rs3136717, rs3136744) SNPs confer no genetic predisposition to SLE risk in this Chinese Han population. Public Library of Science 2015-07-13 /pmc/articles/PMC4500405/ /pubmed/26167925 http://dx.doi.org/10.1371/journal.pone.0132556 Text en © 2015 Li et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Li, Yuan
Wu, Ziyan
Zhang, Shulan
Chen, Si
Li, Ping
Li, Jing
Cao, Chongwei
Liu, Bin
Zhang, Fengchun
Li, Yongzhe
Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title_full Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title_fullStr Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title_full_unstemmed Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title_short Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population
title_sort genetic variants of iκb kinase β (ikbkb) and polymerase β (polb) were not associated with systemic lupus erythematosus risk in a chinese han population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4500405/
https://www.ncbi.nlm.nih.gov/pubmed/26167925
http://dx.doi.org/10.1371/journal.pone.0132556
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