Abstract
Migraine is a common disorder with a significant genetic component. Mutations in the CACNA1A gene are found in hemiplegic migraine (HM). Basilar-type (BM), another subtype of migraine with aura, differs from HM only by the absence of motor deficits. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms (SNPs) of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, 5 FHM, 57 migraine with typical aura, 32 migraine without aura patients and 107 healthy controls were screened. The E918D and E993V SNPs were found in 30/117 (25.6%) and 32/117 (27.3%) migraine patients, respectively. The prevalence of these SNPs taken separately was not significantly different from that of control subjects (n = 28/107, 26.2% for E918D; n = 29/107 for E993V, 27.1%) neither for the total migraine population nor for the various migraine subtypes. By contrast, coexistence of both SNPs was more frequent in migraineurs (25/117, 21%) than in healthy controls (12/107, 11%; p = 0.048), a difference that was significant for every migraine subtype. This result suggests that the interplay of minor genetic variants such as single nucleotide polymorphisms may influence the P/Q-type calcium channel function in several subtypes of migraine.
| Original language | English |
|---|---|
| Pages (from-to) | 12-15 |
| Number of pages | 4 |
| Journal | Neuroscience Letters |
| Volume | 453 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Mar 27 2009 |
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Keywords
- Basilar-type migraine
- CACNA1A
- Hemiplegic migraine
- Migraine
- SNPs
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility. / D'Onofrio, Mara; Ambrosini, Anna; Di Mambro, Alessandra; Arisi, Ivan; Santorelli, Filippo M.; Grieco, Gaetano S.; Nicoletti, Ferdinando; Nappi, Giuseppe; Pierelli, Francesco; Schoenen, Jean; Buzzi, Maria Gabriella.
In: Neuroscience Letters, Vol. 453, No. 1, 27.03.2009, p. 12-15.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility
AU - D'Onofrio, Mara
AU - Ambrosini, Anna
AU - Di Mambro, Alessandra
AU - Arisi, Ivan
AU - Santorelli, Filippo M.
AU - Grieco, Gaetano S.
AU - Nicoletti, Ferdinando
AU - Nappi, Giuseppe
AU - Pierelli, Francesco
AU - Schoenen, Jean
AU - Buzzi, Maria Gabriella
PY - 2009/3/27
Y1 - 2009/3/27
N2 - Migraine is a common disorder with a significant genetic component. Mutations in the CACNA1A gene are found in hemiplegic migraine (HM). Basilar-type (BM), another subtype of migraine with aura, differs from HM only by the absence of motor deficits. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms (SNPs) of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, 5 FHM, 57 migraine with typical aura, 32 migraine without aura patients and 107 healthy controls were screened. The E918D and E993V SNPs were found in 30/117 (25.6%) and 32/117 (27.3%) migraine patients, respectively. The prevalence of these SNPs taken separately was not significantly different from that of control subjects (n = 28/107, 26.2% for E918D; n = 29/107 for E993V, 27.1%) neither for the total migraine population nor for the various migraine subtypes. By contrast, coexistence of both SNPs was more frequent in migraineurs (25/117, 21%) than in healthy controls (12/107, 11%; p = 0.048), a difference that was significant for every migraine subtype. This result suggests that the interplay of minor genetic variants such as single nucleotide polymorphisms may influence the P/Q-type calcium channel function in several subtypes of migraine.
AB - Migraine is a common disorder with a significant genetic component. Mutations in the CACNA1A gene are found in hemiplegic migraine (HM). Basilar-type (BM), another subtype of migraine with aura, differs from HM only by the absence of motor deficits. BM and HM may thus share common genetic features. In the present study, two single nucleotide polymorphisms (SNPs) of the CACNA1A gene were characterized in a population of migraine patients and healthy controls. The polymorphisms, E918D, predicting a glutamic acid-to-aspartic acid substitution at codon 918 and E993V, predicting a glutamic acid-to-valine substitution at codon 993, were frequently detected among patients and controls. Seven BM, 10 SHM, 5 FHM, 57 migraine with typical aura, 32 migraine without aura patients and 107 healthy controls were screened. The E918D and E993V SNPs were found in 30/117 (25.6%) and 32/117 (27.3%) migraine patients, respectively. The prevalence of these SNPs taken separately was not significantly different from that of control subjects (n = 28/107, 26.2% for E918D; n = 29/107 for E993V, 27.1%) neither for the total migraine population nor for the various migraine subtypes. By contrast, coexistence of both SNPs was more frequent in migraineurs (25/117, 21%) than in healthy controls (12/107, 11%; p = 0.048), a difference that was significant for every migraine subtype. This result suggests that the interplay of minor genetic variants such as single nucleotide polymorphisms may influence the P/Q-type calcium channel function in several subtypes of migraine.
KW - Basilar-type migraine
KW - CACNA1A
KW - Hemiplegic migraine
KW - Migraine
KW - SNPs
UR - http://www.scopus.com/inward/record.url?scp=60949092495&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=60949092495&partnerID=8YFLogxK
U2 - 10.1016/j.neulet.2009.01.081
DO - 10.1016/j.neulet.2009.01.081
M3 - Article
C2 - 19429006
AN - SCOPUS:60949092495
VL - 453
SP - 12
EP - 15
JO - Neuroscience Letters
JF - Neuroscience Letters
SN - 0304-3940
IS - 1
ER -