Genetic risk factors in thrombotic primary antiphospholipid syndrome: A systematic review with bioinformatic analyses

Islam, Asiful; Khandker, Shahad Saif; Alam, Fahmida; Kamal, Mohammad Amjad; Gan, Siew Hua

doi:10.1016/j.autrev.2017.10.014

Cited by 30 publications

(18 citation statements)

References 118 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Certainly, in patients carrying aPL it is possible to stay in a grey zone with other autoimmune diseases [26]. Thus, a genetic predisposition [27] and a trigger that may damage endothelial surface [28] with aPL generation could explain its heterogeneous presentation. Furthermore, we have observed that there were a few cases that presented other clinical manifestations, such as migraine (34 cases) and high blood pressure (48 cases), reinforcing the theory of endothelial damage [29].…”

Section: Discussionmentioning

confidence: 99%

The European Registry on Obstetric Antiphospholipid Syndrome (EUROAPS): A survey of 1000 consecutive cases

Alijotas‐Reig¹,

Esteve-Valverde

Ferrer‐Oliveras³

et al. 2019

Autoimmunity Reviews

126

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

The European Registry on Obstetric Antiphospholipid Syndrome (EUROAPS): A survey of 1000 consecutive cases

Alijotas‐Reig¹,

Esteve-Valverde

Ferrer‐Oliveras³

et al. 2019

Autoimmunity Reviews

126

View full text Add to dashboard Cite

show abstract

“…The number of complement factor (C)4A or C4B null alleles was also linked to aCL production in black American populations . Islam et al performed a recent systematic review of genetic risk factors specifically for primary APS and reported 22 polymorphisms, 16 of which were associated with thrombotic APS and the majority of them were located along the coagulation and immune pathways . Polymorphism in domain V of β 2 GPI, causing a compositional protein change, exchanging valine for leucine at position 247, has also been associated with anti‐β 2 GPI antibodies in patients of Asian origin .…”

Section: What Is the Origin/triggering Factors For The Occurrence Of Aplmentioning

confidence: 99%

“…Other important HLA gene associations are HLA-DRB1*04, *07, *13, *09 and HLADQB1*0302, all have been associated with aPL production in APS patients of varying ethnicities, with or without SLE [122][123][124]. The number of complement factor (C)4A or C4B null alleles was also linked to aCL production in black American populations [125] immune pathways [126]. Polymorphism in domain V of b 2 GPI, causing a compositional protein change, exchanging valine for leucine at position 247, has also been associated with antib 2 GPI antibodies in patients of Asian origin [127,128].…”

Section: Geneticsmentioning

confidence: 99%

The antiphospholipid syndrome – often overlooked cause of vascular occlusions?

Svenungsson

Antovič

2020

J Intern Med

View full text Add to dashboard Cite

The antiphospholipid syndrome (APS) was fully recognized as a clinical entity in the early 1980s. Still, more than 30 years later, the epidemiology of APS is not well described, and furthermore, APS remains a challenge in terms of both diagnostic issues and clinical praxis involving a wide range of specialties. To date, there are no diagnostic criteria for APS. The present classification criteria rely on a combination of clinical manifestations and persistently positive tests for antiphospholipid antibodies (aPL). Clinical symptoms comprise vascular thrombosis, which can affect any vascular bed, including venous, microvascular and arterial vessels, and a set of pregnancy morbidities including early and late miscarriages, foetal death and preeclampsia. APS is more frequent among patients with other autoimmune diseases, and it is especially common in systemic lupus erythematosus (SLE). Importantly, APS symptoms can present in almost any medical specialty, but general knowledge and most previous clinical studies have essentially been confined to haematology, rheumatology and obstetrics/gynaecology. However, recent data demonstrate a relatively high prevalence of aPL also in patients from the general population who suffer from vascular occlusions or pregnancy complications. It is important that these patients are recognized by the general health care since APS is a treatable condition. This review aims to summarize the present knowledge on the history, pathogenesis, clinical manifestations and treatment of APS in order to urge a wide range of clinicians to consider comprehensive assessment of all patients where the diagnosis APS may be conceivable.

show abstract

“…Although the precise pathogenic background of the syndrome is unknown, in some cases genetic predisposition may play a role. In the recent systematic review, 16 potential genes participating in the development of APS were identified [83]. It was 40 years ago when the first familial occurrence of aPLs was documented for the first time [84].…”

Section: Aps: Genetic Predisposition and Family Studiesmentioning

confidence: 99%

MicroRNA (miRNA): A New Dimension in the Pathogenesis of Antiphospholipid Syndrome (APS)

Kotyla

Islam

2020

IJMS

View full text Add to dashboard Cite

MicroRNAs (miRNAs) are single-stranded, endogenous RNA molecules that play a significant role in the regulation of gene expression as well as cell development, differentiation, and function. Recent data suggest that these small molecules are responsible for the regulation of immune responses. Therefore, they may act as potent modulators of the immune system and play an important role in the development of several autoimmune diseases. Antiphospholipid syndrome (APS) is an autoimmune systemic disease characterized by venous and/or arterial thromboses and/or recurrent fetal losses in the presence of antiphospholipid antibodies (aPLs). Several lines of evidence suggest that like other autoimmune disorders, miRNAs are deeply involved in the pathogenesis of APS, interacting with the function of innate and adaptive immune responses. In this review, we characterize miRNAs in the light of having a functional role in the immune system and autoimmune responses focusing on APS. In addition, we also discuss miRNAs as potential biomarkers and target molecules in treating APS.

show abstract

Genetic risk factors in thrombotic primary antiphospholipid syndrome: A systematic review with bioinformatic analyses

Cited by 30 publications

References 118 publications

The European Registry on Obstetric Antiphospholipid Syndrome (EUROAPS): A survey of 1000 consecutive cases

The European Registry on Obstetric Antiphospholipid Syndrome (EUROAPS): A survey of 1000 consecutive cases

The antiphospholipid syndrome – often overlooked cause of vascular occlusions?

MicroRNA (miRNA): A New Dimension in the Pathogenesis of Antiphospholipid Syndrome (APS)

Contact Info

Product

Resources

About