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A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants.

Abstract Cluster 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.
PMID
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Authors

Mayor MeshTerms
Keywords

Association studies in genetics

Cluster headache

Genome-Wide Association Study

Membrane metalloendopeptidase (MME)

Missense mutation

Neprylisin

Pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1)

Journal Title the journal of headache and pain
Publication Year Start




PMID- 27957625
OWN - NLM
STAT- In-Process
DA  - 20161213
LR  - 20170208
IS  - 1129-2377 (Electronic)
IS  - 1129-2369 (Linking)
VI  - 17
IP  - 1
DP  - 2016 Dec
TI  - A genome-wide analysis in cluster headache points to neprilysin and PACAP
      receptor gene variants.
PG  - 114
AB  - BACKGROUND: Cluster 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. METHODS: We 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.
      RESULTS: Although no single variant showed statistically significant association 
      at the genome-wide threshold, we identified an interesting suggestive association
      (P = 9.1 x 10-6) with a common variant of the PACAP receptor gene (ADCYAP1R1).
      Furthermore, gene-based analysis provided significant evidence of association (P 
      = 2.5 x 10-5) for a rare potentially damaging missense variant in the MME gene,
      encoding for the membrane metallo-endopeptidase neprilysin. CONCLUSIONS: Our
      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.
FAU - Bacchelli, Elena
AU  - Bacchelli E
AD  - Department of Pharmacy and Biotechnology, University of Bologna, Via Selmi 3,
      40126, Bologna, Italy.
FAU - Cainazzo, Maria Michela
AU  - Cainazzo MM
AD  - Headache and Drug Abuse Unit, Policlinico Hospital, University of Modena and
      Reggio Emilia, Modena, Italy.
FAU - Cameli, Cinzia
AU  - Cameli C
AD  - Department of Pharmacy and Biotechnology, University of Bologna, Via Selmi 3,
      40126, Bologna, Italy.
FAU - Guerzoni, Simona
AU  - Guerzoni S
AD  - Headache and Drug Abuse Unit, Policlinico Hospital, University of Modena and
      Reggio Emilia, Modena, Italy.
FAU - Martinelli, Angela
AU  - Martinelli A
AD  - Department of Pharmacy and Biotechnology, University of Bologna, Via Selmi 3,
      40126, Bologna, Italy.
AD  - Present address: School of Medicine, University of St Andrews, St Andrews, UK.
FAU - Zoli, Michele
AU  - Zoli M
AD  - Department of Biomedical, Metabolic and Neural Sciences, Center for Neuroscience 
      and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy.
FAU - Maestrini, Elena
AU  - Maestrini E
AUID- ORCID: http://orcid.org/0000-0001-5924-3179
AD  - Department of Pharmacy and Biotechnology, University of Bologna, Via Selmi 3,
      40126, Bologna, Italy. [email protected]
FAU - Pini, Luigi Alberto
AU  - Pini LA
AD  - Center for Neuroscience and Neurotechnology, Policlinico Hospital, University of 
      Modena and Reggio Emilia, Via del Pozzo 71, 41100, Modena, Italy.
      [email protected]
LA  - eng
PT  - Journal Article
DEP - 20161213
PL  - Italy
TA  - J Headache Pain
JT  - The journal of headache and pain
JID - 100940562
PMC - PMC5153392
OTO - NOTNLM
OT  - Association studies in genetics
OT  - Cluster headache
OT  - Genome-Wide Association Study
OT  - Membrane metalloendopeptidase (MME)
OT  - Missense mutation
OT  - Neprylisin
OT  - Pituitary adenylate cyclase-activating polypeptide receptor (ADCYAP1R1)
EDAT- 2016/12/14 06:00
MHDA- 2016/12/14 06:00
CRDT- 2016/12/14 06:00
PHST- 2016/11/01 [received]
PHST- 2016/11/29 [accepted]
AID - 10.1186/s10194-016-0705-y [doi]
AID - 10.1186/s10194-016-0705-y [pii]
PST - ppublish
SO  - J Headache Pain. 2016 Dec;17(1):114. Epub 2016 Dec 13.

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