Genetic Factors in Antiphospholipid Syndrome: Preliminary Experience with Whole Exome Sequencing.

ABSTRACT: As in many autoimmune diseases, the pathogenesis of the antiphospholipid syndrome (APS) is the result of a complex interplay between predisposing genes and triggering environmental factors, leading to a loss of self-tolerance and immune-mediated tissue damage. While the first genetic studies in APS focused primarily on the human leukocytes antigen system (HLA) region, more recent data highlighted the role of other genes in APS susceptibility, including those involved in the immune response and in the hemostatic process. In order to join this intriguing debate, we analyzed the single-nucleotide polymorphisms (SNPs) derived from the whole exome sequencing (WES) of two siblings affected by APS and compared our findings with the available literature. We identified genes encoding protein

SUBMITTER: Barinotti A 

PROVIDER: S-EPMC7765384 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature