Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree
Author(s)
Rodriguez, Astrid
Maher, Bridget
Lea, Rodney
Benton, Miles
Griffiths, Lyn
Griffith University Author(s)
Year published
2013
Metadata
Show full item recordAbstract
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 ...
View more >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.
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View more >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.
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Journal Title
Cephalalgia
Volume
33
Issue
14
Subject
Clinical Sciences not elsewhere classified
Neurosciences not elsewhere classified
Clinical Sciences
Neurosciences