ArticleThe journal of headache and pain2016
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.
Article in The journal of headache and pain, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.Annals of neurology · 2023Pooled it
- Circadian Features of Cluster Headache and Migraine: A Systematic Review, Meta-analysis, and Genetic Analysis.Neurology · 2023Pooled it
- Family History of Cluster Headache: A Systematic Review.JAMA neurology · 2020Pooled it
- Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical pain.Neurogenetics · 2020Trial
- Whole blood DNA methylation signature of epigenetic aging in medication overuse headache.The journal of headache and pain · 2026Article
- Neurotransmitter Imbalance in Cluster Headache: A Systematic Review of Mechanisms and Therapeutic Targets.Pain and therapy · 2025Review
- Reviewing the complex relationship between circadian rhythms and cluster headache.Cephalalgia : an international journal of headache · 2025Review
- Targeting PACAP: Beyond Migraine to Cluster, Menstrual, and Post-traumatic Headaches.Advances in therapy · 2025Review
- Unravelling the link between circadian clock genes and brain tumors: From pathological disruptions to potential therapeutic interventions.Frontiers in pharmacology · 2025Review
- Genetics of migraine: where are we now?The journal of headache and pain · 2023Review
- Overview on Common Genes Involved in the Onset of Glioma and on the Role of Migraine as Risk Factor: Predictive Biomarkers or Therapeutic Targets?Journal of personalized medicine · 2022Review
- Genome-wide analyses identify novel risk loci for cluster headache in Han Chinese residing in Taiwan.The journal of headache and pain · 2022Article
- Genetic overlap between temporomandibular disorders and primary headaches: A systematic review.The Japanese dental science review · 2022Review
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache.Annals of neurology · 2021Article
- Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.Annals of neurology · 2021Article
- Current Understanding of the Chronobiology of Cluster Headache and the Role of Sleep in Its Management.Nature and science of sleep · 2021Review
- Cluster headache and TACs: state of the art.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Calcitonin Gene-Related Peptide (CGRP) and Cluster Headache.Brain sciences · 2020Review
- The association between genome-wide polymorphisms and chronic postoperative pain: a prospective observational study.Anaesthesia · 2020Observational
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCluster Headache (CH) is a severe primary headache, with a poorly understood pathophysiology. Complex genetic factors are likely to play a role in CH etiology; however, no confirmed gene associations have been identified. The aim of this study is to identify genetic variants influencing risk to CH and to explore the potential pathogenic mechanisms.
methodsWe have performed a genome-wide association study (GWAS) in a clinically well-defined cohort of 99 Italian patients with CH and in a control sample of 360 age-matched sigarette smoking healthy individuals, using the Infinium PsychArray (Illumina), which combines common highly-informative genome-wide tag SNPs and exonic SNPs. Genotype data were used to carry out a genome-wide single marker case-control association analysis using common SNPs, and a gene-based association analysis focussing on rare protein altering variants in 745 candidate genes with a putative role in CH.
resultsAlthough no single variant showed statistically significant association at the genome-wide threshold, we identified an interesting suggestive association (P = 9.1 × 10
conclusionsOur study represents the first genome-wide association study of common SNPs and rare exonic variants influencing risk for CH. The most interesting results implicate ADCYAP1R1 and MME gene variants in CH susceptibility and point to a role for genes involved in pain processing. These findings provide new insights into the pathogenesis of CH that need further investigation and replication in larger CH samples.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.