Epigenetics, pregnancy and autoimmune rheumatic diseases

Pacini, G.; Paolino, Sabrina; Andréoli, Laura; Tincani, Anǵela; Gerosa, Maria; Caporali, Roberto; Iagnocco, Annamaria; Ospelt, Caroline; Smith, Vanessa; Cutolo, Maurizio

doi:10.1016/j.autrev.2020.102685

Cited by 21 publications

(10 citation statements)

References 169 publications

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“…The sex differences in autoimmune diseases have been discussed for decades ( 17 ). So far, the female predominance in most systemic rheumatic diseases was partly attributed to estrogen-like molecules and epigenetics ( 18 , 19 ). Since APS can be complicated with a great number of systemic rheumatic diseases and quite a few female patients present merely as obstetric events, evaluating sex differences in the whole APS population could be biased by female predominance.…”

Section: Discussionmentioning

confidence: 99%

Sex Differences in Clinical Characteristics and Prognosis in Primary Thrombotic Antiphospholipid Syndrome

Huang

Liu

et al. 2022

Front. Cardiovasc. Med.

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ObjectivesThis study aimed to investigate whether there are sex differences in clinical characteristics and prognosis in patients with primary thrombotic antiphospholipid syndrome (ptAPS).MethodsFrom January 2013 to July 2021, 154 consecutive patients diagnosed with ptAPS were prospectively recruited. Multivariable Cox regression was used to evaluate the association between gender and the composite endpoint including thromboembolic recurrence or all-cause death during follow-up.ResultsTotally, 80 (52%) male and 74 (48%) female patients with ptAPS were included, and men had a higher percentage of smokers/ex-smokers [50 (62%) vs. 6 (8%), p < 0.001] and hyperhomocysteinemia [26 (32%) vs. 9 (12%), p = 0.003]. The baseline thromboembolic events were similar in two genders, except for limb ischemia [15 (19%) in men vs. 1 (1%) in women, p < 0.001]. During a median follow-up of 42 months, the composite endpoint occurred in 30 (38%) male and 15 (20%) female patients (p = 0.019). Male gender [HR 2.499, 95% CI (1.316, 4.743), p = 0.005] and warfarin administration [HR 0.482, 95% CI (0.257, 0.905), p = 0.023] remained independent risk factors for the composite endpoint. Male gender [HR 3.699, 95% CI (1.699, 8.246), p = 0.001] and isolated lupus anticoagulant positivity [HR 2.236, 95% CI (1.039, 4.811), p = 0.040] were independent risk factors for thromboembolic recurrence.ConclusionThere are sex disparities in the clinical characteristics in patients with ptAPS and the male gender is an independent risk factor for the poor prognosis. Male patients with isolated lupus anticoagulant (LA) positivity have the highest risk of thromboembolic recurrence.

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Section: Discussionmentioning

confidence: 99%

Sex Differences in Clinical Characteristics and Prognosis in Primary Thrombotic Antiphospholipid Syndrome

Huang

Liu

et al. 2022

Front. Cardiovasc. Med.

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“…4 In the past decade, a large number of studies found that autoimmune disorders play an important role in the occurrence of some pregnancy complications such as RPL. 8,9 Without a doubt, ANA was the most widely studied immunological indicator associated with adverse pregnancy outcomes. Two systematic review and meta-analysis published in 2020 had proved that RPL patients have higher ANA-positive rate than control group 5,6 and also there were some studies indicated that ANA was associated with the failure of assisted reproductive treatment.…”

Section: Discussionmentioning

confidence: 99%

Interleukin‐1β as clinically predictive risk marker for recurrent pregnancy loss in women positive for antinuclear antibody

Gao

Kong

Qing

et al. 2021

Int J Clinical Practice

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Aims Antinuclear antibody (ANA) was found to be associated with recurrent pregnancy loss (RPL). This study was designed to explore the immunological predictive indicators of RPL in women with positive ANA. Methods A retrospective case‐control study in a university hospital from March 2020 to January 2021 was performed, including 56 cases of women with RPL and 56 controls matched for age, all of which were positive for ANA. Levels of cytokines, lymphocyte subsets, immune globulin and complement in peripheral blood among two groups were compared. Statistical analyses in this study were performed using SPSS 25.0. Results The level of IL‐1β was higher in RPL women compared with controls according to univariable analysis and multivariable regression logistic analysis (7.67 [5.86‐11.35] vs 5.00 [5.00‐5.00], P = .000). After the cut‐off value of IL‐1β was set as 5.66 pg/mL, the prevalence of RPL was significantly elevated in the high IL‐1β group as compared with the low IL‐1β group (P < .05). The sensitivity and specificity of IL‐1β predicting RPL in ANA‐positive women were 76.8% and 91.1%, respectively. Conclusion Increased IL‐1β may play roles in the occurrence of RPL among women with positive ANA. The level of the IL‐1β has the potential to be a predictive indicator of RPL in women with positive ANA.

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“…Epigenetics has followed the research foot-steps of genomics and proteomics and, in recent years, it expanded in various fields, from cancer ( 214 ) to autoimmune diseases ( 215 ), aiming to explain complex biological processes. The epigenetic machinery consists of a multitude of molecules and processes that are interlinked.…”

Section: Immune-related Epigenetics Of Asdmentioning

confidence: 99%

Re-emerging concepts of immune dysregulation in autism spectrum disorders

et al. 2022

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Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by communication and social interaction deficits, and by restricted interests and stereotyped, repetitive behavior patterns. ASD has a strong genetic component and a complex architecture characterized by the interplay of rare and common genetic variants. Recently, increasing evidence suggest a significant contribution of immune system dysregulation in ASD. The present paper reviews the latest updates regarding the altered immune landscape of this complex disorder highlighting areas with potential for biomarkers discovery as well as personalization of therapeutic approaches. Cross-talk between the central nervous system and immune system has long been envisaged and recent evidence brings insights into the pathways connecting the brain to the immune system. Disturbance of cytokine levels plays an important role in the establishment of a neuroinflammatory milieu in ASD. Several other immune molecules involved in antigen presentation and inflammatory cellular phenotypes are also at play in ASD. Maternal immune activation, the presence of brain-reactive antibodies and autoimmunity are other potential prenatal and postnatal contributors to ASD pathophysiology. The molecular players involved in oxidative-stress response and mitochondrial system function, are discussed as contributors to the pro-inflammatory pattern. The gastrointestinal inflammation pathways proposed to play a role in ASD are also discussed. Moreover, the body of evidence regarding some of the genetic factors linked to the immune system dysregulation is reviewed and discussed. Last, but not least, the epigenetic traits and their interactions with the immune system are reviewed as an expanding field in ASD research. Understanding the immune-mediated pathways that influence brain development and function, metabolism, and intestinal homeostasis, may lead to the identification of robust diagnostic or predictive biomarkers for ASD individuals. Thus, novel therapeutic approaches could be developed, ultimately aiming to improve their quality of life.

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Epigenetics, pregnancy and autoimmune rheumatic diseases

Cited by 21 publications

References 169 publications

Sex Differences in Clinical Characteristics and Prognosis in Primary Thrombotic Antiphospholipid Syndrome

Sex Differences in Clinical Characteristics and Prognosis in Primary Thrombotic Antiphospholipid Syndrome

Interleukin‐1β as clinically predictive risk marker for recurrent pregnancy loss in women positive for antinuclear antibody

Re-emerging concepts of immune dysregulation in autism spectrum disorders

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