Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.

Genes encoding IRF1 and IRF8 protein have been proposed as candidate tuberculosis susceptibility genes. In order to elucidate whether the IRF1 and IRF8 variants were associated with tuberculosis susceptibility, we conducted a case-control study consisting of 495 controls and 452 ethnically matched c...

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Autores principales:	Shiping Ding, Tao Jiang, Jianqin He, Beibei Qin, Shuangyan Lin, Lanjuan Li
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/fe62acfc88f843d8af24791ef08c3f36
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spelling	oai:doaj.org-article:fe62acfc88f843d8af24791ef08c3f362021-11-18T07:09:36ZTagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.1932-620310.1371/journal.pone.0042104https://doaj.org/article/fe62acfc88f843d8af24791ef08c3f362012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22879909/?tool=EBIhttps://doaj.org/toc/1932-6203Genes encoding IRF1 and IRF8 protein have been proposed as candidate tuberculosis susceptibility genes. In order to elucidate whether the IRF1 and IRF8 variants were associated with tuberculosis susceptibility, we conducted a case-control study consisting of 495 controls and 452 ethnically matched cases with tuberculosis in a Chinese population. Seven haplotype tagging single-nucleotide polymorphisms (tagSNPs) (rs2057656; rs2706381; rs2070724; rs2070721; rs2549008; rs2549007; rs2706386) from HapMap database were analyzed, which provided an almost complete coverage of the genetic variations in the IRF1 gene. Fifteen tagSNPs (rs12924316; rs182511; rs305080; rs2292980; rs925994; rs424971; rs16939967; rs11117415; rs4843860; rs9926411; rs8064189; rs12929551; rs10514611; rs1044873; rs6638) were observed in the IRF8 gene. All these tagSNPs were genotyped by SNPstream genotyping and SNaPshot typing. None of the seven tagSNPs was individually associated with tuberculosis in the IRF1 gene. In the IRF8 gene, interestingly, we found that three tagSNPs (rs925994 and rs11117415 located in the intron region; rs10514611 located in the 3'UTR) were associated with risk of tuberculosis after Bonferroni correction. Per allele OR was 1.75 (95% CI 1.35 ~ 2.27, P = 0.002), 4.75 (95% CI 2.16 ~ 10.43, P = 0.002) and 3.39 (95% CI 1.60 ~ 7.20, P = 0.015) respectively. Luciferase reporter gene assay showed that the construct that contained the non-risk allele C of rs10514611 showed significantly higher luciferase activity than did the risk T allele (P<0.01), which implied rs10514611 was a potential functional SNP site. Our results indicated that the IRF8 gene might participate in genetic susceptibility to tuberculosis in a Chinese population.Shiping DingTao JiangJianqin HeBeibei QinShuangyan LinLanjuan LiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e42104 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Shiping Ding Tao Jiang Jianqin He Beibei Qin Shuangyan Lin Lanjuan Li Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
description	Genes encoding IRF1 and IRF8 protein have been proposed as candidate tuberculosis susceptibility genes. In order to elucidate whether the IRF1 and IRF8 variants were associated with tuberculosis susceptibility, we conducted a case-control study consisting of 495 controls and 452 ethnically matched cases with tuberculosis in a Chinese population. Seven haplotype tagging single-nucleotide polymorphisms (tagSNPs) (rs2057656; rs2706381; rs2070724; rs2070721; rs2549008; rs2549007; rs2706386) from HapMap database were analyzed, which provided an almost complete coverage of the genetic variations in the IRF1 gene. Fifteen tagSNPs (rs12924316; rs182511; rs305080; rs2292980; rs925994; rs424971; rs16939967; rs11117415; rs4843860; rs9926411; rs8064189; rs12929551; rs10514611; rs1044873; rs6638) were observed in the IRF8 gene. All these tagSNPs were genotyped by SNPstream genotyping and SNaPshot typing. None of the seven tagSNPs was individually associated with tuberculosis in the IRF1 gene. In the IRF8 gene, interestingly, we found that three tagSNPs (rs925994 and rs11117415 located in the intron region; rs10514611 located in the 3'UTR) were associated with risk of tuberculosis after Bonferroni correction. Per allele OR was 1.75 (95% CI 1.35 ~ 2.27, P = 0.002), 4.75 (95% CI 2.16 ~ 10.43, P = 0.002) and 3.39 (95% CI 1.60 ~ 7.20, P = 0.015) respectively. Luciferase reporter gene assay showed that the construct that contained the non-risk allele C of rs10514611 showed significantly higher luciferase activity than did the risk T allele (P<0.01), which implied rs10514611 was a potential functional SNP site. Our results indicated that the IRF8 gene might participate in genetic susceptibility to tuberculosis in a Chinese population.
format	article
author	Shiping Ding Tao Jiang Jianqin He Beibei Qin Shuangyan Lin Lanjuan Li
author_facet	Shiping Ding Tao Jiang Jianqin He Beibei Qin Shuangyan Lin Lanjuan Li
author_sort	Shiping Ding
title	Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
title_short	Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
title_full	Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
title_fullStr	Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
title_full_unstemmed	Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.
title_sort	tagging single nucleotide polymorphisms in the irf1 and irf8 genes and tuberculosis susceptibility.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/fe62acfc88f843d8af24791ef08c3f36
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Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.

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