Association between HLA class II antigens and primary antiphospholipid syndrome from the South of Spain

Mt, Camps; Cuadrado, M J; Ocón, P.; Alonso, A.; Gutiérrez, Anna; Guil, M.; Grana, MI; Enrique, Rafael

doi:10.1177/096120339500400111

Cited by 36 publications

(14 citation statements)

References 18 publications

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“…In a study of 13 patients with the primary APS, HLA-DR4 and DRw53 were more frequently found, but no correction was made for multiple comparisons [24]. 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.…”

Section: Genes Associated With Antiphospholipid Syndromesupporting

confidence: 57%

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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: 57%

“…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].…”

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confidence: 65%

Genetics of Antiphospholipid Syndrome

Hancer¹

2011

Human Genet Embryol

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“…Alarcon-Segovia and Granados have previously reported an increase in DR7 in Mexican patients with PAPS [11]. HLA-DR7 is the most frequent allele in the Spanish population [12], and in PAPS patients from the south of Spain, HLA-DQ7 antigen confers the highest relative risk for PAPS, followed by DRw53, without statistically significant association between the histocompatibility class I and II antigens and the presence of aCL or LA [13]. In the family reported here, the propositus, with cerebrovascular symptoms, LR, and skin biopsy, had confirmed SS [14]; her father manifested PAPS.…”

Section: Discussionmentioning

confidence: 95%

Histocompatibility Class I and II Antigens in Extensive Kindred With Sneddon’s Syndrome and Related Hypercoagulation Disorders

et al. 2007

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“…Identification of genes involved in familial disease will shed light on pathways involved in disease expression, and with time, should lead to more specific and hopefully less toxic therapies. LAC DR5, DRw52b, DQB1*0301 (DQw7), or DQB1*0302 (DQw8) [79] aCL antibody DR7 [72,78,87] DR4 [74] Anti-phosphatidylserine/ DQB1*0301/4;DQA1*0301/2;DRB prothrombin antibodies 1*04 [81] Anti-β2-glycoprotein DQB1*0604/5/6/7/9; I antibody DQA1*0102; DRB1*1302 and DQB1*0303 [81,82] …”

Section: Discussionmentioning

confidence: 99%

Review: Familial lupus and antiphospholipid syndrome

Sestak

O'Neil

2007

Lupus

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The occurrence of systemic lupus erythematosus (SLE) in several members of a family has spurred intense efforts to identify susceptibility genes predisposing to the disease. As a result, a number of candidate association genes in different ethnic groups have been identified, and some genes have been linked to specific lupus manifestations. Particularly where familial disease occurs in childhood, and especially when it occurs prior to puberty, complement deficiencies and other immunologic defects should be explored. Evidence of other forms of autoimmunity, including autoimmune thyroiditis and antiphospholipid syndrome (APS), is common in families with SLE. Familial APS is uncommon in the absence of other thrombophilic defects, but occasionally is seen with apparent autosomal dominant inheritance. Thus far, no firm gene associations have been identified for APS, in part because of the rarity of multiplex families to study. A search for other familial causes of thrombotic disease should be performed when APS occurs in more than one family member.

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Association between HLA class II antigens and primary antiphospholipid syndrome from the South of Spain

Cited by 36 publications

References 18 publications

Genetics of Antiphospholipid Syndrome

Genetics of Antiphospholipid Syndrome

Histocompatibility Class I and II Antigens in Extensive Kindred With Sneddon’s Syndrome and Related Hypercoagulation Disorders

Review: Familial lupus and antiphospholipid syndrome

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