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JAMA Ophthalmology May 2024Effects of genetic variants on primary angle-closure disease remained uncertain. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Effects of genetic variants on primary angle-closure disease remained uncertain.
OBJECTIVE
To systematically review the associations of common single-nucleotide variants (SNVs) and rare coding variants with primary angle-closure disease, its subtypes (including primary angle-closure glaucoma, primary angle-closure suspect, and primary angle-closure) and progression.
DATA SOURCES
Eligible studies from PubMed, Embase, and Web of Science were retrieved up to April 3, 2023. SNV information was extracted from eligible reports and 2 genome-wide association studies summary statistics, UK BioBank and FinnGen.
STUDY SELECTION
Studies providing analyzable genotype or allele data in a case-control design for primary angle-closure disease association and longitudinal case-only design for primary angle-closure disease progression.
DATA EXTRACTION AND SYNTHESIS
PRISMA guidelines were used for literature screening and the Newcastle Ottawa Scale for data quality assessment. Pooled effect size with 95% CIs of SNV associations were calculated using fixed- or random-effect models according to I2 statistics.
MAIN OUTCOMES AND MEASURES
SNVs reported in 2 or more studies were meta-analyzed to generate pooled odds ratios and P values. Common and rare coding variants from single reports were summarized.
RESULTS
Sixty-nine citations were eligible for meta-analysis on overall primary angle-closure disease, involving 206 SNVs in 64 genes or loci. Seventeen SNVs in 15 genes or loci showed associations with primary angle-closure disease, and 15 SNVs in 13 genes or loci showed associations with primary angle-closure glaucoma. Two SNVs, ABCA1 rs2422493 and ZNRF3 rs3178915, were associated only with primary angle-closure disease. Two SNVs, PCMTD1-ST18 rs1015213 and COL11A1 rs3753841, were associated with primary angle-closure suspect, and 1 SNV, MMP9 rs3918249, was associated with primary angle-closure. This systematic review and meta-analysis newly confirmed 7 genes or loci associated with primary angle-closure glaucoma: ATOH7, CALCRL, FBN1, IL6, LOXL1, MMP19, and VAV3. Common and rare coding variants in 16 genes or loci that have been associated with primary angle-closure disease were cataloged. Stratification analysis revealed different primary angle-closure disease-associated genes in different ethnic populations. Only 1 study regarding the genetic association of primary angle-closure glaucoma progression was identified.
CONCLUSIONS AND RELEVANCE
This study revealed the genetic complexity of primary angle-closure disease, involving common SNVs and rare coding variants in more than 30 genes or loci, with ethnic and phenotypic diversities. Further replication, genotype-phenotype correlation, and pathway analyses are warranted.
Topics: Glaucoma, Angle-Closure; Humans; Polymorphism, Single Nucleotide; Genome-Wide Association Study; Genetic Predisposition to Disease; Intraocular Pressure
PubMed: 38546604
DOI: 10.1001/jamaophthalmol.2024.0363 -
British Journal of Anaesthesia Jan 2022Development of a widely accepted standardised analgesic pathway for adult spine surgery has been hampered by the lack of quantitative analysis. We conducted a systematic... (Meta-Analysis)
Meta-Analysis
Efficacy of perioperative pharmacological and regional pain interventions in adult spine surgery: a network meta-analysis and systematic review of randomised controlled trials.
BACKGROUND
Development of a widely accepted standardised analgesic pathway for adult spine surgery has been hampered by the lack of quantitative analysis. We conducted a systematic review and network meta-analysis (NMA) to compare, rank, and grade all pharmacological and regional interventions used in adult spine surgery.
METHODS
A systematic search was performed in January 2021. We performed double study screening, selection, and data extraction. The co-primary outcomes were cumulative morphine consumption (mg) and visual analogue pain score (range 0-10) at postoperative 24 h. An NMA was performed using the Bayesian approach (random effects model). We also ranked and graded all analgesic interventions using the Grading of Recommendations Assessment, Development and Evaluation approach for NMA.
RESULTS
We screened 5908 studies and included 86 randomised controlled studies, which comprised 6284 participants. Of 20 pharmacological and 10 regional interventions, the most effective intervention was triple-drug therapy, consisting of paracetamol, nonsteroidal anti-inflammatory drugs, and adjunct. The pooled mean reduction in morphine consumption and pain score at postoperative 24 h were -26 (95% credible interval [CrI]: -39 to -12) mg and -2.3 (95% CrI: -3.1 to -1.4), respectively. Double-drug therapy was less effective, but showed moderate morphine reduction in a range of -15 to -17 mg and pain score reduction in a range of -1 to -1.6. Single-agent interventions were largely ineffective.
CONCLUSIONS
Triple-drug therapy is the most effective pain intervention in adult spine surgery with moderate-to-high certainty of evidence. We have also identified a graded analgesic effect, in which analgesic efficacy increased with the number of multimodal drugs used.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO (CRD42020171326).
Topics: Adult; Analgesics; Analgesics, Opioid; Drug Therapy, Combination; Humans; Morphine; Network Meta-Analysis; Pain Measurement; Pain, Postoperative; Randomized Controlled Trials as Topic; Spine
PubMed: 34774296
DOI: 10.1016/j.bja.2021.08.034 -
PloS One 2021To systematically review the evidence on the diagnostic accuracy and prognostic value of retinal optical coherence tomography (OCT) to detect visual acuity (VA) or... (Meta-Analysis)
Meta-Analysis
PURPOSE
To systematically review the evidence on the diagnostic accuracy and prognostic value of retinal optical coherence tomography (OCT) to detect visual acuity (VA) or visual field (VF) loss in children with a brain tumour.
METHODS
PubMed, Embase and Cochrane Library databases were searched from inception to February 2021. We included studies evaluating retinal OCT and standard visual function parameters (VA and or VF) in children with a brain tumour. Two authors independently extracted data from each included study. They also assessed the methodological quality of the studies using the QUADAS-2 or QUIPS tool. The diagnostic accuracy of OCT was evaluated with receiver operating characteristic analysis, sensitivity, specificity, positive predictive value and negative predictive value. The prognostic value of OCT was evaluated with predictive measures (odds ratio).
RESULTS
We included five diagnostic studies, with a total of 186 patients, all diagnosed with optic pathway glioma. No prognostic studies were eligible for inclusion. Included studies evaluated either retinal nerve fiber layer (RNFL) thickness or ganglion cell layer-inner plexiform layer (GCL-IPL) thickness. There was considerable heterogeneity between OCT devices, OCT protocols, visual function parameters and threshold values. Sensitivity and specificity for RNFL thickness measurement ranged from 60.0% to 100.0% and 76.6% to 100%, respectively. For GCL-IPL thickness measurement, area under the curve ranged from 0.91 to 0.98 for different diameters.
CONCLUSION
The literature regarding the diagnostic accuracy and prognostic value of OCT parameters in children with a brain tumour is scarce. Due to heterogeneity and a considerable risk of bias of included studies, we cannot draw solid conclusions regarding the accuracy of retinal OCT. Future research should investigate the potential of OCT as diagnostic and prognostic tool for the evaluation of the visual function and detection of visual impairment in children with any type of brain tumour.
Topics: Brain Neoplasms; Child; Humans; Optic Nerve Glioma; Prognosis; Tomography, Optical Coherence; Visual Acuity; Visual Field Tests
PubMed: 34941930
DOI: 10.1371/journal.pone.0261631 -
Child's Nervous System : ChNS :... Jun 2024Craniopharyngiomas (CP) are rare brain tumors that often result in visual impairment due to their proximity to the optic pathway. The optimal management approach to... (Review)
Review
OBJECTIVE
Craniopharyngiomas (CP) are rare brain tumors that often result in visual impairment due to their proximity to the optic pathway. The optimal management approach to preserve visual function in these patients remains controversial. We sought to investigate visual outcomes of children with craniopharyngiomas based on treatment modality.
METHODS
A systematic review was performed according to PRISMA guidelines. PubMed, Embase, and Scopus databases were searched in December 2022 for relevant articles. Articles were screened by title/abstract for relevance, then by full-text. Relevant demographic, intervention, and outcome data were extracted from included studies.
RESULTS
A total of 59 studies were included, representing 2655 patients. The overall visual status (OVS) of patients receiving surgery alone was improved in 27.6% of reported outcomes, unchanged in 50.3%, and deteriorated in 22.1%. The OVS for patients receiving radiation alone was improved in 21.1%, unchanged in 42.1%, and deteriorated in 36.8%. Patients receiving surgery plus adjuvant radiotherapy had OVS improvement in 27.4%, unchanged in 63.2%, and deteriorated in 9.4%. Of those receiving intracystic bleomycin, 23.1% had improvement in OVS, 46.2% remained unchanged, and 30.8% deteriorated. Of patients receiving interferon-α, 34.8% improved, 54.5% remained unchanged, and 10.6% deteriorated.
CONCLUSION
OVS most frequently remained unchanged regardless of intervention. The greatest improvement in OVS was seen in those receiving interferon-α or surgery alone. The greatest OVS deterioration was noted with radiation alone. Future standardized, randomized, large-scale studies with focused assessment of ophthalmologic findings are key to further understanding the impact different interventions have on visual outcomes in these children.
Topics: Child; Humans; Craniopharyngioma; Neurosurgical Procedures; Pituitary Neoplasms; Treatment Outcome; Vision Disorders
PubMed: 38416204
DOI: 10.1007/s00381-024-06328-5 -
Frontiers in Rehabilitation Sciences 2022Non-invasive brain stimulation methods have been widely utilized in research settings to manipulate and understand the functioning of the human brain. In the last two...
BACKGROUND
Non-invasive brain stimulation methods have been widely utilized in research settings to manipulate and understand the functioning of the human brain. In the last two decades, transcranial electrical stimulation (tES) has opened new doors for treating impairments caused by various neurological disorders. However, tES studies have shown inconsistent results in post-stroke cognitive rehabilitation, and there is no consensus on the effectiveness of tES devices in improving cognitive skills after the onset of stroke.
OBJECTIVES
We aim to systematically investigate the efficacy of tES in improving post-stroke global cognition, attention, working memory, executive functions, visual neglect, and verbal fluency. Furthermore, we aim to provide a pathway to an effective use of stimulation paradigms in future studies.
METHODS
Preferred reporting items for systematic reviews and meta-analysis (PRISMA) guidelines were followed. Randomized controlled trials (RCTs) were systematically searched in four different databases, including Medline, Embase, Pubmed, and PsychInfo. Studies utilizing any tES methods published in English were considered for inclusion. Standardized mean difference (SMD) for each cognitive domain was used as the primary outcome measure.
RESULTS
The meta-analysis includes 19 studies assessing at least one of the six cognitive domains. Five RCTs studying global cognition, three assessing visual neglect, five evaluating working memory, three assessing attention, and nine studies focusing on aphasia were included for meta-analysis. As informed by the quantitative analysis of the included studies, the results favor the efficacy of tES in acute improvement in aphasic deficits (SMD = 0.34, CI = 0.02-0.67, = 0.04) and attention deficits (SMD = 0.59, CI = -0.05-1.22, = 0.07), however, no improvement was observed in any other cognitive domains.
CONCLUSION
The results favor the efficacy of tES in an improvement in aphasia and attentive deficits in stroke patients in acute, subacute, and chronic stages. However, the outcome of tES cannot be generalized across cognitive domains. The difference in the stimulation montages and parameters, diverse cognitive batteries, and variable number of training sessions may have contributed to the inconsistency in the outcome. We suggest that in future studies, experimental designs should be further refined, and standardized stimulation protocols should be utilized to better understand the therapeutic effect of stimulation.
PubMed: 36188889
DOI: 10.3389/fresc.2022.795737 -
Scientific Reports Mar 2021In previous studies, food insecurity has been hypothesised to promote the prevalence of metabolic risk factors on the causal pathway to diet-sensitive non-communicable... (Meta-Analysis)
Meta-Analysis
Association between food insecurity and key metabolic risk factors for diet-sensitive non-communicable diseases in sub-Saharan Africa: a systematic review and meta-analysis.
In previous studies, food insecurity has been hypothesised to promote the prevalence of metabolic risk factors on the causal pathway to diet-sensitive non-communicable diseases (NCDs). This systematic review and meta-analysis aimed to determine the associations between food insecurity and key metabolic risk factors on the causal pathway to diet-sensitive NCDs and estimate the prevalence of key metabolic risk factors among the food-insecure patients in sub-Saharan Africa. This study was guided by the Centre for Reviews and Dissemination (CRD) guidelines for undertaking systematic reviews in healthcare. The following databases were searched for relevant literature: PubMed, EBSCOhost (CINAHL with full text, Health Source - Nursing, MedLine). Epidemiological studies published between January 2015 and June 2019, assessing the associations between food insecurity and metabolic risk outcomes in sub-Saharan African populations, were selected for inclusion. Meta-analysis was performed with DerSimonian-Laird's random-effect model at 95% confidence intervals (CIs). The I statistics reported the degree of heterogeneity between studies. Publication bias was assessed by visual inspection of the funnel plots for asymmetry, and sensitivity analyses were performed to assess the meta-analysis results' stability. The Mixed Methods Appraisal Tool (MMAT) - Version 2018 was used to appraise included studies critically. The initial searches yielded 11,803 articles, 22 cross-sectional studies were eligible for inclusion, presenting data from 26,609 (46.8% males) food-insecure participants, with 11,545 (42.1% males) reported prevalence of metabolic risk factors. Of the 22 included studies, we identified strong evidence of an adverse association between food insecurity and key metabolic risk factors for diet-sensitive NCDs, based on 20 studies. The meta-analysis showed a significantly high pooled prevalence estimate of key metabolic risk factors among food-insecure participants at 41.8% (95% CI: 33.2% to 50.8%, I = 99.5% p-value < 0.00) derived from 14 studies. The most prevalent type of metabolic risk factors was dyslipidaemia 27.6% (95% CI: 6.5% to 54.9%), hypertension 24.7% (95% CI: 15.6% to 35.1%), and overweight 15.8% (95% CI: 10.6% to 21.7%). Notably, the prevalence estimates of these metabolic risk factors were considerably more frequent in females than males. In this systematic review and meta-analysis, exposure to food insecurity was adversely associated with a wide spectrum of key metabolic risk factors, such as obesity, dyslipidaemia, hypertension, underweight, and overweight. These findings highlight the need to address food insecurity as an integral part of diet-sensitive NCDs prevention programmes. Further, these findings should guide recommendations on the initiation of food insecurity status screening and treatment in clinical settings as a basic, cost-effective tool in the practice of preventive medicine in sub-Saharan Africa.PROSPERO registration number: PROSPERO 2019 CRD42019136638.
Topics: Africa South of the Sahara; Diet; Female; Food Insecurity; Humans; Hypertension; Male; Noncommunicable Diseases; Obesity; Overweight; Risk Factors
PubMed: 33664339
DOI: 10.1038/s41598-021-84344-0 -
Journal of Traditional Chinese Medicine... Feb 2024To systematically evaluate the efficacy and safety of acupuncture (AM) in the treatment of pregnancy-related symptoms such as acute vomiting during pregnancy. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To systematically evaluate the efficacy and safety of acupuncture (AM) in the treatment of pregnancy-related symptoms such as acute vomiting during pregnancy.
METHODS
We comprehensively searched the available literature up to November 2021, including PubMed, Embase, Cochrane Library, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure Database, for randomized controlled trials (RCTs) on AM for the treatment of severe vomiting, insomnia, pharyngeal and pelvic pain, mood abnormalities, and dyspepsia during pregnancy.
RESULTS
Sixteen RCTs with a cumulative sample size of 1178 cases were included. Of these, 964 patients were included in the Meta-analysis. The Meta-analysis results showed that AM was more efficient than Western medicine in treating discomfort during pregnancy [odds ratio () = 1.19, 95% confidence interval () (1.11, 1.28), 0.01]. AM was better than the control group in improving the visual analog scale scores [standard mean difference () = 0.62, 95% (0.53, 0.71), 0.01]. AM was superior to the control group in improving Numerical Rating Scale (NRS) symptom scores [ = 7.31, 95% (3.36, 15.94), 0.01]. There was no significant difference in adverse effects between the AM and sham-AM groups and the analgesic drug group [ = 0.70, 95% (0.39, 1.28), = 0.25], but the treatment and control groups had mild adverse effects with a low incidence.
CONCLUSIONS
AM is more effective than other treatments or pharmacotherapy alone in the treatment of pregnancy-related symptoms, and is relatively safe. However, the quality of the included trials was rather poor, and high-quality studies are required to confirm our findings.
Topics: Female; Humans; Pregnancy; Acupuncture Therapy; China; Pelvic Pain; Sleep Initiation and Maintenance Disorders; Vomiting
PubMed: 38213235
DOI: 10.19852/j.cnki.jtcm.20231204.006 -
The Cochrane Database of Systematic... Nov 2023Postpartum haemorrhage (PPH), defined as blood loss of 500 mL or more after childbirth, is the leading cause of maternal mortality worldwide. It is possible to prevent... (Review)
Review
BACKGROUND
Postpartum haemorrhage (PPH), defined as blood loss of 500 mL or more after childbirth, is the leading cause of maternal mortality worldwide. It is possible to prevent complications of PPH with timely and appropriate detection and management. However, implementing the best methods of PPH prevention, detection and management can be challenging, particularly in low- and middle-income countries.
OBJECTIVES
Our overall objective was to explore the perceptions and experiences of women, community members, lay health workers, and skilled healthcare providers who have experience with PPH or with preventing, detecting, and managing PPH, in community or health facility settings.
SEARCH METHODS
We searched MEDLINE, CINAHL, Scopus, and grey literature on 13 November 2022 with no language restrictions. We then performed reference checking and forward citation searching of the included studies.
SELECTION CRITERIA
We included qualitative studies and mixed-methods studies with an identifiable qualitative component. We included studies that explored perceptions and experiences of PPH prevention, detection, and management among women, community members, traditional birth attendants, healthcare providers, and managers.
DATA COLLECTION AND ANALYSIS
We used three-stage maximum variation sampling to ensure diversity in terms of relevance of the study to the review objectives, richness of data, and coverage of critical contextual elements: setting (region, country income level), perspective (type of participant), and topic (prevention, detection, management). We extracted data using a data extraction form designed for this review. We used thematic synthesis to analyse and synthesise the evidence, and we used the GRADE-CERQual (Confidence in the Evidence from Reviews of Qualitative research) approach to assess our confidence in each finding. To identify factors that may influence intervention implementation, we mapped each review finding to the Theoretical Domains Framework (TDF) and the Capability, Motivation, and Opportunity model of Behaviour change (COM-B). We used the Behaviour Change Wheel to explore implications for practice.
MAIN RESULTS
We included 67 studies and sampled 43 studies for our analysis. Most were from low- or middle-income countries (33 studies), and most included the perspectives of women and health workers. We downgraded our confidence in several findings from high confidence to moderate, low, or very-low confidence, mainly due to concerns about how the studies were conducted (methodological limitations) or concerns about missing important perspectives from some types of participants or in some settings (relevance). In many communities, bleeding during and after childbirth is considered "normal" and necessary to expel "impurities" and restore and cleanse the woman's body after pregnancy and birth (moderate confidence). In some communities, people have misconceptions about causes of PPH or believe that PPH is caused by supernatural powers or evil spirits that punish women for ignoring or disobeying social rules or for past mistakes (high confidence). For women who give birth at home or in the community, female family members or traditional birth attendants are the first to recognise excess bleeding after birth (high confidence). Family members typically take the decision of whether and when to seek care if PPH is suspected, and these family members are often influenced by trusted traditional birth attendants or community midwives (high confidence). If PPH is identified for women birthing at home or in the community, decision-making about the subsequent referral and care pathway can be multifaceted and complex (high confidence). First responders to PPH are not always skilled or trained healthcare providers (high confidence). In health facilities, midwives may consider it easy to implement visual estimation of blood loss with a kidney dish or under-pad, but difficult to accurately interpret the amount of blood loss (very low confidence). Quantifying (rather than estimating) blood loss may be a complex and contentious change of practice for health workers (low confidence). Women who gave birth in health facilities and experienced PPH described it as painful, embarrassing, and traumatic. Partners or other family members also found the experience stressful. While some women were dissatisfied with their level of involvement in decision-making for PPH management, others felt health workers were best placed to make decisions (moderate confidence). Inconsistent availability of resources (drugs, medical supplies, blood) causes delays in the timely management of PPH (high confidence). There is limited availability of misoprostol in the community owing to stockouts, poor supply systems, and the difficulty of navigating misoprostol procurement for community health workers (moderate confidence). Health workers described working on the maternity ward as stressful and intense due to short staffing, long shifts, and the unpredictability of emergencies. Exhausted and overwhelmed staff may be unable to appropriately monitor all women, particularly when multiple women are giving birth simultaneously or on the floor of the health facility; this could lead to delays in detecting PPH (moderate confidence). Inadequate staffing, high turnover of skilled health workers, and appointment of lower-level cadres of health workers are key challenges to the provision of quality PPH care (high confidence). Through team-based simulation training, health workers of different cadres (doctors, midwives, lay health workers) can develop a shared mental model to help them work quickly, efficiently, and amicably as a team when managing women with PPH (moderate confidence).
AUTHORS' CONCLUSIONS
Our findings highlight how improving PPH prevention, detection, and management is underpinned by a complex system of interacting roles and behaviours (community, women, health workers of different types and with different experiences). Multiple individual, sociocultural, and environmental factors influence the decisions and behaviours of women, families, communities, health workers, and managers. It is crucial to consider the broader health and social systems when designing and implementing PPH interventions to change or influence these behaviours. We have developed a set of prompts that may help programme managers, policymakers, researchers, and other key stakeholders to identify and address factors that affect implementation and scale-up of interventions to improve PPH prevention, detection, and management.
Topics: Pregnancy; Female; Humans; Postpartum Hemorrhage; Misoprostol; Health Personnel; Midwifery; Family
PubMed: 38009552
DOI: 10.1002/14651858.CD013795.pub2 -
European Journal of Nuclear Medicine... Feb 2016Imaging or tissue biomarker evidence has been introduced into the core diagnostic pathway for Alzheimer's disease (AD). PET using (18)F-labelled beta-amyloid PET tracers... (Meta-Analysis)
Meta-Analysis Review
Imaging or tissue biomarker evidence has been introduced into the core diagnostic pathway for Alzheimer's disease (AD). PET using (18)F-labelled beta-amyloid PET tracers has shown promise for the early diagnosis of AD. However, most studies included only small numbers of participants and no consensus has been reached as to which radiotracer has the highest diagnostic accuracy. First, we performed a systematic review of the literature published between 1990 and 2014 for studies exploring the diagnostic accuracy of florbetaben, florbetapir and flutemetamol in AD. The included studies were analysed using the QUADAS assessment of methodological quality. A meta-analysis of the sensitivity and specificity reported within each study was performed. Pooled values were calculated for each radiotracer and for visual or quantitative analysis by population included. The systematic review identified nine studies eligible for inclusion. There were limited variations in the methods between studies reporting the same radiotracer. The meta-analysis results showed that pooled sensitivity and specificity values were in general high for all tracers. This was confirmed by calculating likelihood ratios. A patient with a positive ratio is much more likely to have AD than a patient with a negative ratio, and vice versa. However, specificity was higher when only patients with AD were compared with healthy controls. This systematic review and meta-analysis found no marked differences in the diagnostic accuracy of the three beta-amyloid radiotracers. All tracers perform better when used to discriminate between patients with AD and healthy controls. The sensitivity and specificity for quantitative and visual analysis are comparable to those of other imaging or biomarker techniques used to diagnose AD. Further research is required to identify the combination of tests that provides the highest sensitivity and specificity, and to identify the most suitable position for the tracer in the clinical pathway.
Topics: Aged; Alzheimer Disease; Aniline Compounds; Benzothiazoles; Case-Control Studies; Ethylene Glycols; Female; Humans; Male; Middle Aged; Positron-Emission Tomography; Radiopharmaceuticals; Reproducibility of Results; Stilbenes
PubMed: 26613792
DOI: 10.1007/s00259-015-3228-x -
Molecular Neurobiology Dec 2023Migraine is a complex neurovascular disorder that is characterized by severe behavioral, sensory, visual, and/or auditory symptoms. It has been labeled as one of the ten... (Review)
Review
Migraine is a complex neurovascular disorder that is characterized by severe behavioral, sensory, visual, and/or auditory symptoms. It has been labeled as one of the ten most disabling medical illnesses in the world by the World Health Organization (Aagaard et al Sci Transl Med 6(237):237ra65, 2014). According to a recent report by the American Migraine Foundation (Shoulson et al Ann Neurol 25(3):252-9, 1989), around 148 million people in the world currently suffer from migraine. On the basis of presence of aura, migraine is classified into two major subtypes: migraine with aura (Aagaard et al Sci Transl Med 6(237):237ra65, 2014) and migraine without aura. (Aagaard K et al Sci Transl Med 6(237):237ra65, 2014) Many complex genetic mechanisms have been proposed in the pathophysiology of migraine but specific pathways associated with the different subtypes of migraine have not yet been explored. Various approaches including candidate gene association studies (CGAS) and genome-wide association studies (Fan et al Headache: J Head Face Pain 54(4):709-715, 2014). have identified the genetic markers associated with migraine and its subtypes. Several single nucleotide polymorphisms (Kaur et al Egyp J Neurol, Psychiatry Neurosurg 55(1):1-7, 2019) within genes involved in ion homeostasis, solute transport, synaptic transmission, cortical excitability, and vascular function have been associated with the disorder. Currently, the diagnosis of migraine is majorly behavioral with no focus on the genetic markers and thereby the therapeutic intervention specific to subtypes. Therefore, there is a need to explore genetic variants significantly associated with MA and MO as susceptibility markers in the diagnosis and targets for therapeutic interventions in the specific subtypes of migraine. Although the proper characterization of pathways based on different subtypes is yet to be studied, this review aims to make a first attempt to compile the information available on various genetic variants and the molecular mechanisms involved with the development of MA and MO. An attempt has also been made to suggest novel candidate genes based on their function to be explored by future research.
PubMed: 38135854
DOI: 10.1007/s12035-023-03837-3