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Background

Oestrogen receptor 1 ( ESR1) is located in region 6q25.1 and encodes a ligand-activated transcription factor composed of several domains important for hormone binding and transcription activation. Progesterone receptor ( PGR) is located in 11q22-23 and mediates the role of progesterone interacting with different transcriptional co-regulators. ESR1 and PGR have previously been implicated in migraine susceptibility. Here, we report the results of an association study of these genes in a migraine pedigree from the genetic isolate of Norfolk Island, a population descended from a small number of Isle of Man "Bounty Mutineer" and Tahitian founders.

Methods

A significant number of molecular markers in the ESR1 (143) and PGR (43) genes were evaluated in a sample of 285 related individuals (135 males; 150 females). A pedigree-based analysis in the GenABEL package was used to analyse the results.

Results and conclusions

A total of 10 markers in the ESR1 gene showed association with migraine ( P  < 0.05) in the Norfolk Island population. No association was detected with PGR . Three haplotypes in ESR1 were found to be associated with migraine ( P  = 0.004, 0.03, 0.005). Future genetic studies in larger populations and expression analysis are required to clarify the role of ESR1 in migraine susceptibility."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.org/dc/terms/identifier"doi:10.1177/0333102413486321"xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/author"Griffiths L.R."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/author"Lea R.A."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/author"Benton M."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/author"Maher B.H."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/author"Rodriguez-Acevedo A.J."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/name"Cephalalgia"xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/pages"1139-1147"xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/title"Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree."xsd:string
http://purl.uniprot.org/citations/23674830http://purl.uniprot.org/core/volume"33"xsd:string
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