No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility.
BACKGROUND
We have previously reported an association between the estrogen receptor 1 (ESR1) gene exon 8 G594A polymorphism and migraine susceptibility in two independent Australian cohorts. In this paper we report results of analysis of two further single nucleotide polymorphisms (SNPs) in the ESR1 gene in the same study group, the T/C Pvu II SNP in intron 1 and the C325G SNP in exon 4, as well as results of linkage disequilibrium (LD) analysis on these markers.


METHODS
We investigated these variants by case-control association analysis in a cohort of 240 migraineurs and 240 matched controls. The SNPs were genotyped using specific restriction enzyme assays. Results were analysed using contingency table methods incorporating the chi-squared statistic. LD results are presented as D' statistics with associated P values.


RESULTS
We found no evidence for association of the Pvu II T/C polymorphism and the C325G polymorphism and migraine susceptibility and no evidence for LD between these two SNPs and the previously implicated exon 8 G594A marker.


CONCLUSIONS
We have found no role for the polymorphisms in intron 1 and exon 4 with migraine susceptibility. To further investigate our previously implicated exon 8 marker, we suggest the need for studies with a high density of polymorphisms be undertaken, with particular focus on markers in LD with the exon 8 marker.
Colson
Natalie J
NJ
Genomics Research Centre, School of Health Science, Griffith University Gold Coast, PMB 50, Gold Coast Mail Centre, Queensland, 9726, Australia. n.colson@griffith.edu.au
Lea
Rod A
RA
Quinlan
Sharon
S
Griffiths
Lyn R
LR
D016022:Case-Control Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D008881:Migraine Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D047628:Estrogen Receptor alpha