Association of a new allele of the TAP2 gene, TAP2* Bky2 (Val577), with susceptibility to Sjögren's syndrome

Kumagai, Shunichi; Kanagawa, Sugayo; Morinobu, Akio; Takada, Moriatsu; Nakamura, Kimihito; Sugai, Susumu; Maruya, Etsuko; Saji, Hiroh

doi:10.1002/art.1780400919

Cited by 62 publications

(44 citation statements)

References 33 publications

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“…Finally, as shown in Table 6, the obtained frequencies in Mestizos and Seri were compared with other populations: Guarani, Kaingang, Caucasians from Paraná-Brazil, 7 French, 29,51 German, 52 Sardinian, 38 Spaniards, 53 Caucasians from USA, 12,54 Tunisian, 55 Japanese, 56,57 British, 40 and Italians. 36 The results showed that the distribution of TAP1 and TAP2 alleles was very similar in all the groups excepting for Guarani.…”

Section: Resultsmentioning

confidence: 99%

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

et al. 2002

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Section: Resultsmentioning

confidence: 99%

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

et al. 2002

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“…These four genes are associated with several autoimmune diseases, such as type I diabetes, juvenile rheumatoid arthritis, ankylosing spondylitis, celiac disease, Sjö gren's syndrome and multiple sclerosis. [1][2][3][4][5][6] LMP2 and LMP7 encode IFN-g inducible subunits of the immunoproteasome, which degrade ubiquitintagged cytoplasmic proteins into peptides that are especially suited for presentation by MHC class I molecules. 7,8 An additional IFN-g inducible subunit, multicatalytic endopeptidase complex-like-1 (MECL1), is part of the immunoproteasome complex, but is encoded on a different chromosome than the MHC region.…”

Section: Introductionmentioning

confidence: 99%

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

She

McCormack

2003

Genes Immun

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Genes within the class II region of the major histocompatibility complex (MHC), including genes involved in antigen processing and presentation, have been reported to be associated with several autoimmune diseases. We report here that the LMP/TAP gene region is significantly associated with vitiligo, a disorder in which biochemical defects and/or autoimmune destruction cause melanocyte loss and resulting skin depigmentation. Case/control analyses revealed genetic association of vitiligo in Caucasian patients with an early age of onset with the transporter associated with antigen processing-1 (TAP1) gene. A familybased association method revealed biased transmission of specific alleles from heterozygous parents to affected offspring for the TAP1 gene, as well as for the closely linked LMP2 and LMP7 genes encoding subunits of the immunoproteasome. No association with vitiligo was found for the MECL1 gene, which encodes a third immunoproteasome subunit and is unlinked to the MHC class II region. These results suggest a possible role for the MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response involved in vitiligo pathogenesis.

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“…Mutation of Tap-2 may cause defective precessing of HLA I, leading to primary immunodeficiency (55). Tap-2 mutation has been associated with familial bronchiectasis and with susceptibility to Sjögren's syndrome (10,21). Tap-2B may increase the risk for nickel allergy (52).…”

mentioning

confidence: 99%

Interferon Regulatory Factor 7 Mediates Activation of Tap-2 by Epstein-Barr Virus Latent Membrane Protein 1

Zhang

Pagano

2001

J Virol

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Transporter associated with antigen processing 2 (Tap-2) is responsible for ATP-dependent transport of peptides from the cytosol to the endoplasmic reticulum, where peptides bind to newly synthesized human leukocyte antigen (HLA) class I molecules, which are essential for cellular immune responses. Epstein-Barr virus (EBV) latent membrane protein 1 (LMP-1) has been shown to induce the expression of Tap-2. In this study, the induction of endogenous Tap-2 by LMP-1 is shown to be associated with and requires the expression of interferon regulatory factor 7 (IRF-7). In DG75 Burkitt's lymphoma (

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Association of a new allele of the TAP2 gene, *TAP2** Bky2 (Val⁵⁷⁷), with susceptibility to Sjögren's syndrome

Abstract: The mutation in TAP2 (Val577) may be involved in SS-A autoantibody production and could be a genetic factor that determines susceptibility to SS.

Cited by 62 publications

References 33 publications

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico

Genes of the LMP/TAP cluster are associated with the human autoimmune disease vitiligo

Interferon Regulatory Factor 7 Mediates Activation of Tap-2 by Epstein-Barr Virus Latent Membrane Protein 1

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