Hla—dr antigens and anticardiolipin antibodies in northern italian systemic lupus erythematosus patients

Savi, M; Ferraccioli, Gianfranco; Neri, Tauro Maria; Zanelli, Paola; Dall'Aglio, P; Tincani, Anǵela; Balestrieri, G.; Carella, Graziella; Cattaneo, Roberto

doi:10.1002/art.1780311216

Cited by 80 publications

(35 citation statements)

References 14 publications

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“…The data confirmed in a population from Spain [25] and Canada [7]. Studies of HLA alleles in patients with conventianal aCL showed increased frequencies of HLA DR4 [26] or DR7 [25,27] in SLE population. DR7 was also increased in Mexican patients with aCL [28].…”

Section: Genes Associated With Antiphospholipid Syndromesupporting

confidence: 69%

Genetics of Antiphospholipid Syndrome

Hancer¹

2011

Human Genet Embryol

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Antiphospholipid syndrome (APS) is defined as recurrent arterial and/or venous thrombosis and obstetric complications in the presence of antiphospholipid antibodies (aPL). The possibility of a genetic predisposition to develop antiphospholipid syndrome (APS) and to produce anticardiolipin antibodies and lupus anticoagulant has been examined by family studies and population studies. Similar to many other polygenic autoimmune diseases, human leukocyte antigen associations have been reported. The genetics of β2-glycoprotein I, one of the most representative target antigens of aPL, has been extensively studied. Additional genetic risk factors for the development of thrombosis in patients with aPL have also been discussed. Although the mechanisms and pathophysiology of thrombosis in APS are highly heterogeneous and multifactorial, different genes seem to be involved.The term "antiphospholipid syndrome" has been proposed to describe the association of arterial and venous thrombosis, recurrent fetal loss, and immune thrombocytopenia with a spectrum of autoantibodies directed against cellular phospholipid components. Because of the antigen spesifity of antiphospholipid antibodies (aPL) and the pathophysiology of thrombosis in antiphospholipid syndrome (APS) are heterogeneous and multifactorial, a single scenario can not explain the mechanisms of thrombophilia or pregnancy morbidity in pateints. Investigation of the clinical epidemiology of APS is in its early stages. During the past 20 years, studies of aPL and APS have been made in many countries [1][2][3][4][5][6][7][8][9][10][11]. aPL appear to occur in all populations studied, with some variations noted in their frequency and in the clinical complications [1,9,10,12,13]. Environmental and genetic factors contribute to ethnic variation and susceptibility to APS and thus interethnic differences in disease patterns may be due to environmental or genetic factors, or both [1,14]. A genetic basis for aPL antibodies was suggested for the first time when a familial clustering of chronic false-positive syphilis test individuals were detected [15]. The first description about aPL showed two pairs of siblings with lupus anticoagulant (LA) [16]. Subsequently, primary APS was described [17] and Cevallos et al. [18] reported the development of primary APS in one woman whose identical twin sister was an asymptomatic carrier of aPL. Relatives of patients with sistemic lupus erythematosus (SLE) or primary APS had a higher incidence of anticardiolipin antibodies (aCL) [19,20] suggesting that a genetic factor may relevant with aPL. Mackie et al. [21] reported three families having more than one member with LA and called familial lupus anticoagulants. The identification of several pedigrees with an increased frequency of aPL antibodies and the associated clinical manifestations further support the familial form of APS. In one of these studies, a large kindred in which nine individuals had aPL antibodies was described. Associated clinical manifestations included stroke, deep ve...

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Section: Genes Associated With Antiphospholipid Syndromesupporting

confidence: 69%

Genetics of Antiphospholipid Syndrome

Hancer¹

2011

Human Genet Embryol

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“…A number of diseases are linked to these specificities, some of which also have clinical and pathogenetic features relevant to CSS. Among autoimmune conditions, RA is associated with HLA-DRB1*04 (35), and HLA-DRB7 has been found to correlate with the occurrence of anticardiolipin antibodies in systemic lupus erythematosus (36). Some vasculitides are also associated with such HLA alleles: giant cell arteritis is significantly associated with HLA-DRB1*04 (14).…”

Section: Discussionmentioning

confidence: 99%

HLA–DRB4 as a genetic risk factor for Churg‐Strauss syndrome

Vaglio

Martorana

Maggiore

et al. 2007

Arthritis & Rheumatism

171

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Objective. To explore the association between HLA alleles and Churg-Strauss syndrome (CSS), and to investigate the potential influence of HLA alleles on the clinical spectrum of the disease.Methods. Low-resolution genotyping of HLA-A, HLA-B, and HLA-DR loci and genotyping of TNFA ؊238A/G and TNFA ؊308A/G single-nucleotide polymorphisms were performed in 48 consecutive CSS patients and 350 healthy controls.Results.

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“…Most other published reports that have documented the association of HLA genes with aPL expression involved unrelated patients. These studies suggest an increased association of aPL with HLA-DR4 (4,5,7-9), HLA-DR7 (6,8), DRw53 (7-9), and C4A or C4B null alleles (11). The ethnic background of the population being studied appears to be important.…”

Section: Familial Antiphospholipid Syndrome and Hla-drb Gene Associatmentioning

confidence: 99%

“…The ethnic background of the population being studied appears to be important. For example, Savi et a1 (6) found that HLA-DR7 was increased in a group of Italian patients, while HLA-DR4 was predominant in a group of English patients (3, and C4 null alleles were more commonly encountered in a group of black patients (11).…”

Section: Familial Antiphospholipid Syndrome and Hla-drb Gene Associatmentioning

confidence: 99%