Familial migraine with aura: association study with 5-HT1B/1D, 5-HT2C, and hSERT polymorphisms.
BACKGROUND
The serotonergic system has a significant role in the pathophysiology and pharmacology of migraine.


OBJECTIVE
To study the association between the occurrence of migraine with aura and 5-HT(1B/1D) and 5-HT(2C) receptor gene and the human serotonin transporter (hSERT) gene polymorphisms in 18 unrelated families with multiple affected members.


METHODS
Two polymorphisms in the 5-HT(1B/1D) receptor gene and one polymorphism in the 5-HT(2C) receptor gene were studied by restriction fragment length polymorphism analysis. Allelic variation of the hSERT, with 9, 10, and 12 copies of a "repetitive element," was studied by polymerase chain reaction amplification of the variable number tandem repeat region.


RESULTS
Allelic distribution of 5-HT(1B/1D) and 5-HT(2C) receptor gene polymorphisms in affected patients did not differ in either of the control groups (unaffected relatives or unrelated healthy individuals). A trend toward a significant effect of the 12-repeat hSERT allele as a risk factor for migraine with aura versus unrelated controls was observed.


CONCLUSIONS
Our data do not support the involvement of 5-HT(1B/1D) and 5-HT(2C) receptor gene polymorphisms in migraine with aura, yet do suggest a possible role for a locus at or near the hSERT gene in the susceptibility to migraine with aura.
Racchi
Marco
M
Department of Applied and Experimental Pharmacology, University of Pavia, Italy.
Leone
Massimo
M
Porrello
Emanuela
E
Rigamonti
Andrea
A
Govoni
Stefano
S
Sironi
Marita
M
Montomoli
Cristina
C
Bussone
Gennaro
G
D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D044302:Receptor, Serotonin, 5-HT1B / Q000235:genetics; D044346:Receptor, Serotonin, 5-HT1D / Q000235:genetics; D044405:Receptor, Serotonin, 5-HT2C / Q000235:genetics; D011985:Receptors, Serotonin / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins
D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D044302:Receptor, Serotonin, 5-HT1B; D044346:Receptor, Serotonin, 5-HT1D; D044405:Receptor, Serotonin, 5-HT2C; D011985:Receptors, Serotonin; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins