The IκBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sjögren's syndrome

John Castiblanco, Juan Manuel Anaya

Resultado de la investigación: Contribución a RevistaArtículo

16 Citas (Scopus)

Resumen

The human inhibitory κB-like gene (IκBL) maps to a chromosomal region ∼25 kb telomeric of the TNF gene at 6p21.3. IκBL encodes a protein related to IκBα that may interact with members of the NF-κB/Rel family. We evaluated the role of IκBL gene polymorphism in systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS). Genomic DNA isolated from individuals with SLE (n = 134), pSS (n = 67) and from individuals matched for age, sex, and ethnicity (n = 423) was genotyped for Δ-473, -62T/A and +738T/C polymorphisms. The -62A allele was associated with a decrease in the risk of acquiring SLE in a recessive manner; whereas the +738C allele was associated with a more than twofold and threefold increase in the risk of SLE and pSS respectively, relative to the +738T allele. Four haplotypes were observed for the IκBL polymorphisms. Haplotype -62A+738T (AT) was associated with a 37% decrease in the risk of SLE, whereas AC tended to increase the risk of developing pSS. Using previously reported TNF data, an almost twofold increased in the risk of SLE was observed between haplotypes IKBL-62T+738T/TNF-308G-238G (TTGG) and TTAG because of linkage disequilibrium between IKBL-62T and TNF-308A. Our findings indicate that the IκBL gene influences the risk of developing SLE and pSS. © 2008 American Society for Histocompatibility and Immunogenetics.
Idioma originalEnglish (US)
Páginas (desde-hasta)45-51
Número de páginas7
PublicaciónHuman Immunology
DOI
EstadoPublished - ene 1 2008

Huella dactilar

Sjogren's Syndrome
Systemic Lupus Erythematosus
Genes
Haplotypes
Alleles
tyrosyl-tyrosyl-glutamyl-glutamic acid
Linkage Disequilibrium
DNA

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title = "The IκBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sj{\"o}gren's syndrome",
abstract = "The human inhibitory κB-like gene (IκBL) maps to a chromosomal region ∼25 kb telomeric of the TNF gene at 6p21.3. IκBL encodes a protein related to IκBα that may interact with members of the NF-κB/Rel family. We evaluated the role of IκBL gene polymorphism in systemic lupus erythematosus (SLE) and primary Sj{\"o}gren's syndrome (pSS). Genomic DNA isolated from individuals with SLE (n = 134), pSS (n = 67) and from individuals matched for age, sex, and ethnicity (n = 423) was genotyped for Δ-473, -62T/A and +738T/C polymorphisms. The -62A allele was associated with a decrease in the risk of acquiring SLE in a recessive manner; whereas the +738C allele was associated with a more than twofold and threefold increase in the risk of SLE and pSS respectively, relative to the +738T allele. Four haplotypes were observed for the IκBL polymorphisms. Haplotype -62A+738T (AT) was associated with a 37{\%} decrease in the risk of SLE, whereas AC tended to increase the risk of developing pSS. Using previously reported TNF data, an almost twofold increased in the risk of SLE was observed between haplotypes IKBL-62T+738T/TNF-308G-238G (TTGG) and TTAG because of linkage disequilibrium between IKBL-62T and TNF-308A. Our findings indicate that the IκBL gene influences the risk of developing SLE and pSS. {\circledC} 2008 American Society for Histocompatibility and Immunogenetics.",
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The IκBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sjögren's syndrome. / Castiblanco, John; Anaya, Juan Manuel.

En: Human Immunology, 01.01.2008, p. 45-51.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - The IκBL gene polymorphism influences risk of acquiring systemic lupus erythematosus and Sjögren's syndrome

AU - Castiblanco, John

AU - Anaya, Juan Manuel

PY - 2008/1/1

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N2 - The human inhibitory κB-like gene (IκBL) maps to a chromosomal region ∼25 kb telomeric of the TNF gene at 6p21.3. IκBL encodes a protein related to IκBα that may interact with members of the NF-κB/Rel family. We evaluated the role of IκBL gene polymorphism in systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS). Genomic DNA isolated from individuals with SLE (n = 134), pSS (n = 67) and from individuals matched for age, sex, and ethnicity (n = 423) was genotyped for Δ-473, -62T/A and +738T/C polymorphisms. The -62A allele was associated with a decrease in the risk of acquiring SLE in a recessive manner; whereas the +738C allele was associated with a more than twofold and threefold increase in the risk of SLE and pSS respectively, relative to the +738T allele. Four haplotypes were observed for the IκBL polymorphisms. Haplotype -62A+738T (AT) was associated with a 37% decrease in the risk of SLE, whereas AC tended to increase the risk of developing pSS. Using previously reported TNF data, an almost twofold increased in the risk of SLE was observed between haplotypes IKBL-62T+738T/TNF-308G-238G (TTGG) and TTAG because of linkage disequilibrium between IKBL-62T and TNF-308A. Our findings indicate that the IκBL gene influences the risk of developing SLE and pSS. © 2008 American Society for Histocompatibility and Immunogenetics.

AB - The human inhibitory κB-like gene (IκBL) maps to a chromosomal region ∼25 kb telomeric of the TNF gene at 6p21.3. IκBL encodes a protein related to IκBα that may interact with members of the NF-κB/Rel family. We evaluated the role of IκBL gene polymorphism in systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS). Genomic DNA isolated from individuals with SLE (n = 134), pSS (n = 67) and from individuals matched for age, sex, and ethnicity (n = 423) was genotyped for Δ-473, -62T/A and +738T/C polymorphisms. The -62A allele was associated with a decrease in the risk of acquiring SLE in a recessive manner; whereas the +738C allele was associated with a more than twofold and threefold increase in the risk of SLE and pSS respectively, relative to the +738T allele. Four haplotypes were observed for the IκBL polymorphisms. Haplotype -62A+738T (AT) was associated with a 37% decrease in the risk of SLE, whereas AC tended to increase the risk of developing pSS. Using previously reported TNF data, an almost twofold increased in the risk of SLE was observed between haplotypes IKBL-62T+738T/TNF-308G-238G (TTGG) and TTAG because of linkage disequilibrium between IKBL-62T and TNF-308A. Our findings indicate that the IκBL gene influences the risk of developing SLE and pSS. © 2008 American Society for Histocompatibility and Immunogenetics.

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