Influencia del polimorfismo del gen de la APOE en la respuesta al tratamiento con interferón beta en esclerosis múltiple

Peral, Á.L. Guerrero; Tejero, Miguel Ángel; Gutiérrez, F.; Martín-Polo, J.; Iglesias, Fernando Monsalve; Laherrán, E.; Martín-Serradilla, J.I.; Merino, Silvia Jiménez

doi:10.1016/j.nrl.2010.06.003

Cited by 9 publications

(7 citation statements)

References 36 publications

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“…The effect of ApoE on response to treatment in other diseases is not clear and/or research is lacking (Stehle et al, 2008; Carmona et al, 2011; Guerrero et al, 2011). One interseting finding that deserves to be mentioned is that, following chemotherapy, ApoE4 carriers are at increased risk of cognitive deficits (Ahles et al, 2003).…”

Section: Treatmentmentioning

confidence: 99%

The potential applications of Apolipoprotein E in personalized medicine

Villeneuve

Brisson

Marchant

et al. 2014

Front. Aging Neurosci.

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Personalized medicine uses various individual characteristics to guide medical decisions. Apolipoprotein (ApoE), the most studied polymorphism in humans, has been associated with several diseases. The purpose of this review is to elucidate the potential role of ApoE polymorphisms in personalized medicine, with a specific focus on neurodegenerative diseases, by giving an overview of its influence on disease risk assessment, diagnosis, prognosis, and therapy. This review is not a systematic inventory of the literature, but rather a summary and discussion of novel, influential and promising works in the field of ApoE research that could be valuable for personalized medicine. Empirical evidence suggests that ApoE genotype informs pre-symptomatic risk for a wide variety of diseases, is valuable for the diagnosis of type III dysbetalipoproteinemia, increases risk of dementia in neurodegenerative diseases, and is associated with a poor prognosis following acute brain damage. ApoE status appears to influence the efficacy of certain drugs, outcome of clinical trials, and might also give insight into disease prevention. Assessing ApoE genotype might therefore help to guide medical decisions in clinical practice.

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Section: Treatmentmentioning

confidence: 99%

The potential applications of Apolipoprotein E in personalized medicine

Villeneuve

Brisson

Marchant

et al. 2014

Front. Aging Neurosci.

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“…Sixteen (46%) of included IFN-beta candidate gene studies failed to identify any significant association comparing genetic variation between responders to non-responders. Non-significant associations were repeatedly reported within the HLA locus of class I and/or II (six times) (4, 16–20), in IFNAR1 and INFAR2 genes (two times) (21, 22), in APOE gene (two times) (23, 24), in IRF5 gene (25, 26), and NLRP3 gene (27, 28). Other non-significant associations included MXA (29), HAPLN (30), IFNL3 (31), IRF8 (26), and GPC5 (26) genes.…”

Section: Resultsmentioning

confidence: 97%

Pharmacogenomics of Multiple Sclerosis: A Systematic Review

2019

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Background: Over the past two decades, various novel disease-modifying drugs for multiple sclerosis (MS) have been approved. However, there is high variability in the patient response to the available medications, which is hypothesized to be partly attributed to genetics. Objectives: To conduct a systematic review of the current literature on the pharmacogenomics of MS therapy. Methods: A systematic literature search was conducted using PubMed/MEDLINE database searching for articles investigating a role of genetic variation in response to disease-modifying MS treatments, published in the English language up to October 9th, 2018. PRISMA guidelines for systematic reviews were applied. Studies were included if they investigated response or nonresponse to MS treatment defined as relapse rate, by expanded disability status scale score or based on magnetic resonance imaging. The following data were extracted: first author's last name, year of publication, PMID number, sample size, ethnicity of patients, method, genes, and polymorphisms tested, outcome, significant associations with corresponding P -values and confidence intervals, response criteria, and duration of the follow-up period. Results: Overall, 48 articles published up to October 2018, evaluating response to interferon-beta, glatiramer acetate, mitoxantrone, and natalizumab, met our inclusion criteria and were included in this review. Among those, we identified 42 (87.5%) candidate gene studies and 6 (12.5%) genome-wide association studies. Existing pharmacogenomic evidence is mainly based on the results of individual studies, or on results of multiple studies, which often lack consistency. In recent years, hypothesis-free approaches identified novel candidate genes that remain to be validated. Various study designs, including the definition of clinical response, duration of the follow-up period, and methodology as well as moderate sample sizes, likely contributed to discordances between studies. However, some of the significant associations were identified in the same genes, or in the genes involved in the same biological pathways. Conclusions: At the moment, there is no available clinically actionable pharmacogenomic biomarker that would enable more personalized treatment of MS. More large-scale studies with uniform design are needed to identify novel and validate existing pharmacogenomics findings. Furthermore, studies investigating associations between rare variants and treatment response in MS patients, using next-generation sequencing technologies are warranted.

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“…Exacerbations of baseline pain are frequent (4,9,12–14,16,18,21–23,26,32,33,40,53,56,58–60,63,64,66). These exacerbations sometimes occur spontaneously and sometimes are triggered by the application of light stimuli to the symptomatic area (touch, combing, etc.…”

Section: Nummular Headachementioning

confidence: 99%

“…In addition to spontaneous pain, there may be sensory disturbances in the affected area. The description given for these disturbances is diverse, but in one form or another they can be found in many cases of NH (1,4,6,10–14,16,20–27,29,31,35,39,41,42,47,48,51,53,57–60,63–66). In one of the largest series, sensory symptoms or signs were detected in more than 40% of cases (33).…”

Section: Nummular Headachementioning

confidence: 99%

“…Analgesics and non-steroidal anti-inflammatory drugs (NSAIDs), including indomethacin, have often been administered as symptomatic treatments during exacerbations of pain, or on a regular basis. The therapeutic response has been varied, with no response (1,9,12,13,21,23,25,57,58,61,62,64,65), partial response (6,7,11,22,56,58,62,64), or complete response (4,5,9,14,17,26,58,62,64). Analgesics and NSAIDs have proved beneficial in more than half of the cases in which they have been tried.…”

Section: Nummular Headachementioning

confidence: 99%

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Epicranial headaches part 2: Nummular headache and epicrania fugax

Cuadrado

2023

Cephalalgia

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Background Nummular headache and epicrania fugax are two primary headaches that fall under the heading of epicranial headaches. Methods This article reviews the epidemiological and clinical features of nummular headache and epicrania fugax, proposed pathogenic mechanisms and state-of-the-art management, according to the literature. Results and conclusions Nummular headache and epicrania fugax are generally viewed as rare headache disorders, but no population-based epidemiological data are available. Nummular headache is characterized by continuous or intermittent head pain, which remains circumscribed in a round or oval area of the scalp, typically one to six centimeters in diameter. Epicrania fugax manifests with brief paroxysms of pain that move along the surface of the head, following a linear or zigzag trajectory through different nerve territories. Nummular headache and epicrania fugax are mostly primary headaches, but some secondary cases have been reported. The pathogenesis of these headaches is not fully understood. Nummular headache could probably originate in epicranial tissues or adjacent intracranial structures, while the origin of epicrania fugax could be extracranial or intracranial. Diagnostic assessment requires careful examination of the symptomatic areas. Underlying disorders should be excluded by additional investigations, including neuroimaging and appropriate blood tests. No controlled clinical trials have been conducted in nummular headache or epicrania fugax. Analgesics and anti-inflammatory drugs, botulinum toxin and gabapentin are currently the most recommended treatment options for nummular headache. In epicrania fugax, the most used treatments are gabapentin, lamotrigine, and other antiseizure medications.

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Influencia del polimorfismo del gen de la APOE en la respuesta al tratamiento con interferón beta en esclerosis múltiple

Abstract: Findings of a recent meta-analysis have not supported a role for APOE in MS susceptibility or severity. We have not found, in our data, any influence of this gene in the RRMS response to INFbeta. However, larger series would be required to validate these results.

Cited by 9 publications

References 36 publications

The potential applications of Apolipoprotein E in personalized medicine

The potential applications of Apolipoprotein E in personalized medicine

Pharmacogenomics of Multiple Sclerosis: A Systematic Review

Epicranial headaches part 2: Nummular headache and epicrania fugax

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