Differential contribution of HLA-DR, DQ, and TAP2 alleles to systemic lupus erythematosus susceptibility in Spanish patients: role of TAP2*01 alleles in Ro autoantibody production

Martín-Villa, José Manuel; Martı́nez-Laso, Jorge; Moreno-Pelayo, Miguel A.; Castro-Panete, María José; Martı́nez-Quiles, Narcisa; Álvarez, María Arias; Juan, M D de; Gómez-Reino, Juan J.; Arnaiz‐Villena, Antonio

doi:10.1136/ard.57.4.214

Cited by 32 publications

(28 citation statements)

References 23 publications

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“…As a consequence, only this genotype is probably an "SLE-associated genotype." This observation agrees with other reports, which conclude that homozygosity has an effect in SLE [22,23]. In addition, this homozygous allele is in linkage disequilibrium with the DRB1*0301 allele, both components of the known SLE-associated haplotype DQB1*0201-DQA1*0501-DRB1*03 [24].…”

Section: Discussionsupporting

confidence: 93%

“…Among them, alleles DQB*0201, *0301, and *0602; DQA1*0102 and *0501; and DRB1 *03, *08, and*15 have been observed to be associated with SLE [4,23,24,28]. In this study, significant different allele frequencies were observed for DQA1*0102, DQB1*0402, and DRB*15 that were increased in SLE patients, and for DQB1*0501 and DQB1*0303, which were decreased (Table 4).…”

Section: Discussionmentioning

confidence: 98%

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HLA class II haplotypes in Mexican systemic lupus erythematosus patients

et al. 2004

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 98%

HLA class II haplotypes in Mexican systemic lupus erythematosus patients

et al. 2004

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“…27 In this study, C4 consumption was detected significantly more often in patients with a positive anti-Ro/SSA assay (P ϭ 0.002), which supports the findings of previous studies. 27 Permanent cardiac disease is the most common manifestation of the neonatal lupus syndromes. The neonatal disease is presumed to be due to transplacental passage of these immunoglobulin G (IgG) autoantibodies from the mother with SLE.…”

Section: Discussionsupporting

confidence: 93%

Cardiac involvement in patients with systemic lupus erythematosus and correlation of valvular lesions with anti-Ro/SS-A and anti-La/SS-B antibody levels

Shahin

Hamid

et al. 2004

Mod Rheumatol

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The aim of this study was to evaluate the incidence of morphologic and functional cardiac abnormalities in patients with systemic lupus erythematosus (SLE) and to correlate the findings with levels of anti-Ro/SS-A, anti-La/SS-B, and anti-cardiolipin antibody (aCL). Sixty-two patients with SLE were enrolled in this study. All patients underwent complete history taking, clinical assessment, and standard two-dimensional and Doppler echocardiography. Anti-Ro/SS-A, anti-La/SS-B, and aCL levels were measured using a standardized ELISA test. The patients were subdivided into two subgroups based on the presence or absence of valvular involvement. The two subgroups were then compared. Valvular involvement was present in 19 patients (30.6%), pericardial effusion in 12 patients (19.4%), impaired left ventricular relaxation abnormalities in 2 patients (3.2%), and pulmonary hypertension in 3 patients (4.8%). More patients in the valvular involvement group had positive anti-Ro/SS-A antibodies than in the valvular noninvolvement group (7/19 vs. 4/43). The difference was significant, with P < 0.01. Serum levels of anti-Ro/SS-A levels were significantly higher in the valvular involvement group (33.7 +/- 36.0 vs. 13.7 +/- 25.1; P < 0.01), as were the serum anti-La/SS-B levels (21.9 +/- 23.5 vs. 10.7 +/- 17.8; P < 0.05). The results suggest a causative correlation between anti-Ro/SS-A and anti-La/SS-B antibodies and the pathogenesis of the valvular lesions in SLE patients.

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“…TAP1 and TAP2 are involved in MHC class I antigenmediated processing and presentation to cytotoxic CD8+ T lymphocytes (Glynne et al, 1991;Spies et al, 1992;Kamei et al, 2013). Because of an important role of antigen presentation in the immune response, MHC-encoded antigen-processing genes such as those of the TAP subfamily have been investigated in patients with autoimmune disorders and inflammatory bowel disease (Heresbach et al, 1997;Martín-Villa et al, 1998;Kamei et al, 2013). A previous study from our group identified possible associations between IL17A/IL17RA polymorphisms and AA (Lew et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

Hk¹,

H²,

Bl³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The transporter 1 ATP-binding cassette sub-family B (MDR/ TAP) gene (TAP1) is located in the major histocompatibility complex class 18821 TAP1 polymorphisms and alopecia areata ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18820-18827 (2015) II region, and forms a heterodimer that plays a key role in endogenous antigen presentation pathways. Investigation of polymorphisms identified in these loci has revealed an association with several autoimmune disorders. Alopecia areata (AA) is a common autoimmune disease resulting from T cell-induced damage to hair follicles. The present study documents for the first time a comparison between the allelic and genotypic frequencies of TAP1 single nucleotide polymorphisms (SNPs) in patients with AA and those of a control group, using a direct sequencing method. Our results suggest an association between a promoter SNP (rs2071480) and susceptibility to this disease.

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Differential contribution of HLA-DR, DQ, and TAP2 alleles to systemic lupus erythematosus susceptibility in Spanish patients: role of TAP2*01 alleles in Ro autoantibody production

Cited by 32 publications

References 23 publications

HLA class II haplotypes in Mexican systemic lupus erythematosus patients

HLA class II haplotypes in Mexican systemic lupus erythematosus patients

Cardiac involvement in patients with systemic lupus erythematosus and correlation of valvular lesions with anti-Ro/SS-A and anti-La/SS-B antibody levels

Association between TAP1 gene polymorphisms and alopecia areata in a Korean population

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