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  • 1
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    Familial analysis reveals rare risk variants for migraine in regulatory regions
    Springer Science and Business Media LLC ; 2020
    In:  neurogenetics Vol. 21, No. 3 ( 2020-07), p. 149-157
    Details
    In: neurogenetics, Springer Science and Business Media LLC, Vol. 21, No. 3 ( 2020-07), p. 149-157
    Abstract: The most recent genome-wide association study of migraine increased the total number of known migraine risk loci to 38. Still, most of the heritability of migraine remains unexplained, and it has been suggested that rare gene dysregulatory variants play an important role in migraine etiology. Addressing the missing heritability of migraine, we aim to fine-map signals from the known migraine risk loci to regulatory mechanisms and associate these to downstream genic targets. We analyzed a large cohort of whole-genome sequenced patients from extended migraine pedigrees (1040 individuals from 155 families). We test for association between rare variants segregating in regulatory regions with migraine. The findings were replicated in an independent case-control cohort (2027 migraineurs, 1650 controls). We report an increased burden of rare variants in one CpG island and three polycomb group response elements near four migraine risk loci. We found that the association is independent of the common risk variants in the loci. The regulatory regions are suggested to affect different genes than those originally tagged by the index SNPs of the migraine loci. Families with familial clustering of migraine have an increased burden of rare variants in regulatory regions near known migraine risk loci, with effects that are independent of the variants in the loci. The possible regulatory targets suggest different genes than those originally tagged by the index SNPs of the migraine loci.
    Type of Medium: Online Resource
    ISSN: 1364-6745 , 1364-6753
    URL: Article
    DOI: 10.1007/s10048-020-00606-5
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 1475869-6
    SSG: 12
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  • 2
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    Sex differences in clinical characteristics of migraine and its burden: a population‐based study
    Wiley ; 2023
    In:  European Journal of Neurology Vol. 30, No. 6 ( 2023-06), p. 1774-1784
    Details
    In: European Journal of Neurology, Wiley, Vol. 30, No. 6 ( 2023-06), p. 1774-1784
    Abstract: Understanding migraine in a sex‐specific manner is crucial for improving clinical care, diagnosis and therapy for both females and males. Here, data on sex differences are provided in the presentation of migraine in a large European‐based population cohort, which is representative of the general population. Methods A population‐based study of 62,672 Danish blood donors (both present and previous donors), of whom 12,658 had migraine, was performed. All participants completed a 105‐item diagnostic migraine questionnaire sent via an electronic mailing system (e‐Boks) between May 2020 and August 2020. The questionnaire allowed for correct diagnosis of migraine according to the International Classification of Headache Disorders, third edition. Results The migraine questionnaire was in‐cohort validated and had a positive predictive value of 97% for any migraine, a specificity of 93% and a sensitivity of 93%. There were 9184 females (mean age 45.1 years) and 3434 males (mean age 48.0 years). The 3‐month prevalence of migraine without aura was 11% in females and 3.59% in males. The 3‐month prevalence of migraine with aura was 1.72% in females and 1.58% in males. In females, the age‐related 3‐month prevalence of migraine without aura increased markedly during childbearing age. In males, migraine both with and without aura showed less age variation. Females had a higher frequency of migraine attacks (odds ratio [OR] 1.22) but a lower frequency of non‐migraine headaches (OR = 0.35). Females also had a greater intensity of pain, more unilateral and pulsatile pain, and exacerbation by physical activity (OR = 1.40–1.49) as well as more associated symptoms (OR = 1.26–1.98). Females carried 79% of the total migraine disease burden, which was almost exclusively driven by migraine without aura (77%), whilst there was no sex difference in the disease burden of migraine with aura. Conclusion Females have more severe disease, resulting in a much higher migraine disease burden than indicated by prevalence alone.
    Type of Medium: Online Resource
    ISSN: 1351-5101 , 1468-1331
    URL: Issue
    URL: Article
    DOI: 10.1111/ene.v30.6
    DOI: 10.1111/ene.15778
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2020241-6
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  • 3
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    Letter to the editor regarding proposed new diagnostic criteria for migraine
    SAGE Publications ; 2020
    In:  Cephalalgia Vol. 40, No. 4 ( 2020-04), p. 415-418
    Details
    In: Cephalalgia, SAGE Publications, Vol. 40, No. 4 ( 2020-04), p. 415-418
    Type of Medium: Online Resource
    ISSN: 0333-1024 , 1468-2982
    URL: Article
    DOI: 10.1177/0333102420911190
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2020
    detail.hit.zdb_id: 2019999-5
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  • 4
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    Proposed new diagnostic criteria for chronic migraine
    SAGE Publications ; 2020
    In:  Cephalalgia Vol. 40, No. 4 ( 2020-04), p. 399-406
    Details
    In: Cephalalgia, SAGE Publications, Vol. 40, No. 4 ( 2020-04), p. 399-406
    Abstract: ICHD-3 criteria for chronic migraine (CM) include a mixture of migraine and tension-type-like headaches and do not account for patients who have a high frequency of migraine but no other headaches. Materials and methods Patients from the Danish Headache Center and their relatives with ICHD-3 defined CM were compared with patients with high frequency episodic migraine (HFEM). Danish registries were used to compare the socioeconomic impact in these two groups. A Russian student population was used to determine the generalizability of the number of patients fulfilling CM and the proposed diagnostic criteria for CM. Results There was no difference in the demographic profile between the two groups in the Danish cohort. The number of lifelong or annual attacks ( p  〉  0.3), comorbid diseases, or self-reported effect of triptans ( p = 1) did not differ. HFEM patients purchased more triptans than CM patients ( p = 0.01). CM patients received more early pension ( p = 0.00135) but did not differ from HFEM patients with regard to sickness benefit ( p = 0.207), cash assistance ( p = 0.139), or rehabilitation benefit ( p = 1). Discussion Patients with HFEM are comparable to CM patients with regard to chronicity and disability. We therefore suggest classifying CM as ≥ 8 migraine days per month (proposed CM), disregarding the need for ≥ 15 headache days per month. The proposed diagnostic criteria for CM approximately doubled the number of patients with CM in both the Danish and the Russian materials. Extending the definition of CM to include patients with HFEM will ensure that patients with significant disease burden and unmet treatment needs are identified and provided appropriate access to the range of treatment options and resources available to those with CM. Conclusion Patients with migraine on eight or more days but not 15 days with headache a month are as disabled as patients with ICHD-3 defined CM. They should be included in revised diagnostic criteria for chronic migraine.
    Type of Medium: Online Resource
    ISSN: 0333-1024 , 1468-2982
    URL: Article
    DOI: 10.1177/0333102419877171
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2020
    detail.hit.zdb_id: 2019999-5
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  • 5
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    Functional gene networks reveal distinct mechanisms segregating in migraine families
    Oxford University Press (OUP) ; 2020
    In:  Brain Vol. 143, No. 10 ( 2020-10-01), p. 2945-2956
    Details
    In: Brain, Oxford University Press (OUP), Vol. 143, No. 10 ( 2020-10-01), p. 2945-2956
    Abstract: Migraine is the most common neurological disorder worldwide and it has been shown to have complex polygenic origins with a heritability of estimated 40–70%. Both common and rare genetic variants are believed to underlie the pathophysiology of the prevalent types of migraine, migraine with typical aura and migraine without aura. However, only common variants have been identified so far. Here we identify for the first time a gene module with rare mutations through a systems genetics approach integrating RNA sequencing data from brain and vascular tissues likely to be involved in migraine pathology in combination with whole genome sequencing of 117 migraine families. We found a gene module in the visual cortex, based on single nuclei RNA sequencing data, that had increased rare mutations in the migraine families and replicated this in a second independent cohort of 1930 patients. This module was mainly expressed by interneurons, pyramidal CA1, and pyramidal SS cells, and pathway analysis showed association with hormonal signalling (thyrotropin-releasing hormone receptor and oxytocin receptor signalling pathways), Alzheimer’s disease pathway, serotonin receptor pathway and general heterotrimeric G-protein signalling pathways. Our results demonstrate that rare functional gene variants are strongly implicated in the pathophysiology of migraine. Furthermore, we anticipate that the results can be used to explain the critical mechanisms behind migraine and potentially improving the treatment regime for migraine patients.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
    URL: Article
    DOI: 10.1093/brain/awaa242
    RVK:
    XA 10000
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
    detail.hit.zdb_id: 1474117-9
    SSG: 12
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  • 6
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    Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
    BMJ ; 2020
    In:  Journal of Medical Genetics Vol. 57, No. 9 ( 2020-09), p. 610-616
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 57, No. 9 ( 2020-09), p. 610-616
    Abstract: Familial hemiplegic migraine (FHM) is a rare form of migraine with aura that often has an autosomal dominant mode of inheritance. Rare mutations in the CACNA1A , ATP1A2 and SCN1A genes can all cause FHM revealing genetic heterogeneity in the disorder. Furthermore, only a small subset of the affected individuals has a causal mutation. We set out to investigate what differentiates patients with FHM with no mutation in any known FHM gene from patients with common types of migraine in both familial and sporadic cases. Methods 2558 male and female participants from a migraine cohort from the Danish Headache Center were included. 112 had FHM; 743 had familial migraine; and 1703 had sporadic migraine. Using a linear regression model, we analysed for over-representation of rare functional variants in FHM versus familial migraine and sporadic migraine. Post hoc analyses included pathway analysis and testing for tissue specificity. Results We found that patients with FHM have significantly more rare frameshift indels compared with patients with familial migraine and sporadic migraine. Pathway analysis revealed that the ‘ligand-gated ion channel activity’ and ‘G protein-coupled receptor downstream signalling’ pathways were significantly associated with mutated genes. We moreover found that the mutated genes showed tissue specificity towards nervous tissue and muscle tissue. Conclusion We show that patients with FHM compared with patients with common types of migraine suffer from a higher load of rare frameshift indels in genes associated with synaptic signalling in the central nervous system and possibly in muscle tissue contributing to vascular dysfunction.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    DOI: 10.1136/jmedgenet-2019-106640
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2020
    detail.hit.zdb_id: 2009590-9
    SSG: 12
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  • 7
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    Chronic migraine: Genetics or environment?
    Wiley ; 2021
    In:  European Journal of Neurology Vol. 28, No. 5 ( 2021-05), p. 1726-1736
    Details
    In: European Journal of Neurology, Wiley, Vol. 28, No. 5 ( 2021-05), p. 1726-1736
    Abstract: The transition from episodic migraine to chronic migraine, migraine chronification, is usually a gradual process, which involves multiple risk factors. To date, studies of the genetic risk factors for chronic migraine have focused primarily on candidate‐gene approaches using healthy individuals as controls. Aims and methods In this study, we used a large cohort of migraine families and unrelated migraine patients ( n   〉  2200) with supporting genotype and whole‐genome sequencing data. We evaluated whether there are any genetic variants, common or rare, with a specific association to chronic migraine compared with episodic migraine. Results We found no aggregation of chronic migraine in families with a clustering of migraine. No specific rare variants gave rise to migraine chronification, and migraine chronification was not associated with a higher polygenic risk score. Migraine chronification was not associated with allelic associations with an odds ratio above 2.65. Assessment of effect sizes with genome‐wide significance below an odds ratio of 2.65 requires a genome‐wide association study of at least 7500 chronic migraine patients. Conclusion Our results suggest that migraine chronification is caused by environmental factors rather than genetic factors.
    Type of Medium: Online Resource
    ISSN: 1351-5101 , 1468-1331
    URL: Issue
    URL: Article
    DOI: 10.1111/ene.v28.5
    DOI: 10.1111/ene.14724
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2020241-6
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  • 8
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    Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
    Springer Science and Business Media LLC ; 2022
    In:  Nature Genetics Vol. 54, No. 2 ( 2022-02), p. 152-160
    Details
    In: Nature Genetics, Springer Science and Business Media LLC, Vol. 54, No. 2 ( 2022-02), p. 152-160
    Abstract: Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are previously unknown. These loci provide an opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes: migraine with aura and migraine without aura. Stratification of the risk loci using 29,679 cases with subtype information indicated three risk variants that seem specific for migraine with aura (in HMOX2 , CACNA1A and MPPED2 ), two that seem specific for migraine without aura (near SPINK2 and near FECH ) and nine that increase susceptibility for migraine regardless of subtype. The new risk loci include genes encoding recent migraine-specific drug targets, namely calcitonin gene-related peptide ( CALCA/CALCB ) and serotonin 1F receptor ( HTR1F ). Overall, genomic annotations among migraine-associated variants were enriched in both vascular and central nervous system tissue/cell types, supporting unequivocally that neurovascular mechanisms underlie migraine pathophysiology.
    Type of Medium: Online Resource
    ISSN: 1061-4036 , 1546-1718
    URL: Article
    DOI: 10.1038/s41588-021-00990-0
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 1494946-5
    SSG: 12
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  • 9
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    Online Resource
    Nosographic analysis of osmophobia and field testing of diagnostic criteria including osmophobia
    SAGE Publications ; 2019
    In:  Cephalalgia Vol. 39, No. 1 ( 2019-01), p. 38-43
    Details
    In: Cephalalgia, SAGE Publications, Vol. 39, No. 1 ( 2019-01), p. 38-43
    Abstract: Osmophobia has been suggested as an additional symptom of migraine without aura, and a high prevalence of osmophobia of up to 50% has been reported in the literature. We conducted a nosographic study of osmophobia in all migraineurs and tension-type headache patients and a field testing of suggested diagnostic criteria of osmophobia, presented in the appendix of the second edition of The International Classification of Headache Disorders and suggested by Silva-Néto et al. and Wang et al ., in migraine without aura and tension-type headache patients (n = 1934). Materials and methods Each patient received a validated semi-structured interview. All subjects fulfilled the diagnostic criteria of the second edition of The International Classification of Headache Disorders for migraine or tension-type headache. Statistical analyses were performed using statistical software R. The statistical R package “Caret” was used to construct a confusion matrix and retrieve sensitivity, which is defined as the suggested criteria’s ability to correctly diagnose migraine without aura patients, and specificity, defined as the suggested criteria’s ability to not wrongly diagnose tension-type headache patients. Results Osmophobia was present in 33.5% of patients with migraine with aura, in 36.0% of patients with migraine without aura, and in 1.2% of patients with tension-type headache. All migraineurs with osmophobia also fulfilled the current criteria for migraine by having nausea or photophobia and phonophobia. The appendix criteria had a sensitivity of 0.96 and a specificity of 0.99 for migraine without aura, and a sensitivity of 0.65 and a specificity of 0.99 for probable migraine without aura. Both the criteria by Silva-Néto et al. and Wang et al. had a sensitivity of 0.98 and a specificity of 0.99 for migraine without aura, and a sensitivity of 0.66 and a specificity of 0.99 for probable migraine without aura. Discussion This study demonstrates the remarkable specificity of osmophobia. The criteria by Silva-Néto et al. and Wang et al. both had a higher sensitivity than the appendix criteria for migraine without aura; all three criteria had a low sensitivity for probable migraine without aura. However, neither the appendix criteria nor the criteria by Silva-Néto et al. or Wang et al. added any extra patients that would not have been diagnosed by the current diagnostic criteria for migraine. Osmophobia is a valuable symptom that may be useful to differentiate between migraine without aura and tension-type headache in difficult clinical cases. Conclusion Our results do not suggest that alterations of the current diagnostic criteria for migraine without aura are needed.
    Type of Medium: Online Resource
    ISSN: 0333-1024 , 1468-2982
    URL: Article
    DOI: 10.1177/0333102418771375
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2019
    detail.hit.zdb_id: 2019999-5
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  • 10
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    Pain sensitivity in men who have never experienced a headache: an observer blinded case control study
    Springer Science and Business Media LLC ; 2021
    In:  The Journal of Headache and Pain Vol. 22, No. 1 ( 2021-12)
    Details
    In: The Journal of Headache and Pain, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2021-12)
    Abstract: Headache affects 90–99% of the population. Based on the question “Do you think that you never ever in your whole life have had a headache?” 4% of the population say that they have never experienced a headache. The rarity of never having had a headache suggests that distinct biological and environmental factors may be at play. We hypothesized that people who have never experienced a headache had a lower general pain sensitivity than controls. Methods We included 99 male participants, 47 headache free participants and 52 controls, in an observer blinded nested case-control study. We investigated cold pain threshold and heat pain threshold using a standardized quantitative sensory testing protocol, pericranial tenderness with total tenderness score and pain tolerance with the cold pressor test. Differences between the two groups were assessed with the unpaired Student’s t-test or Mann-Whitney U test as appropriate. Results There was no difference in age, weight or mean arterial pressure between headache free participants and controls. We found no difference in pain detection threshold, pericranial tenderness or pain tolerance between headache free participants and controls. Conclusion Our study clearly shows that freedom from headache is not caused by a lower general pain sensitivity. The results support the hypothesis that headache is caused by specific mechanisms, which are present in the primary headache disorders, rather than by a decreased general sensitivity to painful stimuli. Trial registration Registered at ClinicalTrials.gov ( NCT04217616 ), 3rd January 2020, retrospectively registered.
    Type of Medium: Online Resource
    ISSN: 1129-2369 , 1129-2377
    URL: Article
    DOI: 10.1186/s10194-021-01345-0
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2020168-0
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