PMID- 16504171 OWN - NLM STAT- MEDLINE DCOM- 20060424 LR - 20181113 IS - 1471-2350 (Electronic) IS - 1471-2350 (Linking) VI - 7 DP - 2006 Feb 28 TI - No role for estrogen receptor 1 gene intron 1 Pvu II and exon 4 C325G polymorphisms in migraine susceptibility. PG - 12 AB - 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. CONCLUSION: 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. FAU - Colson, Natalie J AU - Colson NJ AD - 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 FAU - Lea, Rod A AU - Lea RA FAU - Quinlan, Sharon AU - Quinlan S FAU - Griffiths, Lyn R AU - Griffiths LR LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060228 PL - England TA - BMC Med Genet JT - BMC medical genetics JID - 100968552 RN - 0 (Estrogen Receptor alpha) SB - IM MH - Case-Control Studies MH - Estrogen Receptor alpha/*genetics MH - Exons MH - Female MH - *Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Introns MH - Linkage Disequilibrium MH - Male MH - Migraine Disorders/*genetics MH - *Polymorphism, Single Nucleotide PMC - PMC1431511 EDAT- 2006/03/01 09:00 MHDA- 2006/04/25 09:00 PMCR- 2006/02/28 CRDT- 2006/03/01 09:00 PHST- 2005/10/21 00:00 [received] PHST- 2006/02/28 00:00 [accepted] PHST- 2006/03/01 09:00 [pubmed] PHST- 2006/04/25 09:00 [medline] PHST- 2006/03/01 09:00 [entrez] PHST- 2006/02/28 00:00 [pmc-release] AID - 1471-2350-7-12 [pii] AID - 10.1186/1471-2350-7-12 [doi] PST - epublish SO - BMC Med Genet. 2006 Feb 28;7:12. doi: 10.1186/1471-2350-7-12.