Association study of calcitonin gene-related polypeptide-alpha (CALCA) gene polymorphism with migraine
Menon, Saras, Buteri, J., Roy, B., Murrell, M., Quinlan, S., MacMillan, J.C., Lea, Rod A., Haupt, Larisa M., & Griffiths, L. R. (2011) Association study of calcitonin gene-related polypeptide-alpha (CALCA) gene polymorphism with migraine. Brain Research, 1378, pp. 119-124.
Migraine is a neurological disorder that is associated with increased levels of calcitonin gene-related peptide (CGRP) in plasma. CGRP, being one of the mediators of neurogenic inflammation and a phenomenon implicated in the pathogenesis of migraine headache, is thus suggested to have an important role in migraine pathophysiology. Polymorphisms of the CALCA gene have been linked to Parkinson's disease, ovarian cancer and essential hypertension, suggesting a functional role for these polymorphisms. Given the strong evidence linking CGRP and migraine, it is hypothesised that polymorphisms in the CALCA gene may play a role in migraine pathogenesis. Seemingly non functional intronic polymorphisms are capable of disrupting normal RNA processing or introducing a splice site in the transcript. A 16 bp deletion in the first intron of the CALCA gene has been reported to be a good match for the binding site for a transcription factor expressed strongly in neural crest derived cells, AP-2. This deletion also eliminates an intron splicing enhancer (ISE) that may potentially cause exon skipping. This study investigated the role of the 16 bp intronic deletion in the CALCA gene in migraineurs and matched control individuals. Six hundred individuals were genotyped for the deletion by polymerase chain reaction followed by fragment analysis on the 3130 Genetic Analyser. The results of this study showed no significant association between the intronic 16 bp deletion in the CALCA gene and migraine in the tested Australian Caucasian population. However, given the evidence linking CGRP and migraine, further investigation of variants with this gene may be warranted.
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|Item Type:||Journal Article|
|Additional Information:||Menon, S
Macmillan, J C
Lea, R A
Haupt, L M
Griffiths, L R
Brain Res. 2011 Mar 10;1378:119-24. doi: 10.1016/j.brainres.2010.12.072. Epub 2010 Dec 31.
|Keywords:||Australia, Calcitonin/*genetics, female, Genetic Predisposition to Disease/*genetics, Genome-Wide Association Study, genotype, humans, male, Migraine Disorders/*genetics, Polymerase Chain Reaction, *polymorphism, genetic, Protein Precursors/*genetics|
|Subjects:||Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > GENETICS (060400)|
|Divisions:||Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
|Copyright Owner:||Copyright 2011 Elsevier BV|
|Deposited On:||16 Sep 2013 01:34|
|Last Modified:||02 Jul 2014 22:42|
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