An investigation of the <i>5‐HT<sub>2C</sub></i> receptor gene as a migraine candidate gene

Johnson, Matthew P.; Lea, Rodney Arthur; Curtain, Rob; MacMillan, John; Griffiths, Lyn R.

doi:10.1002/ajmg.b.10007

Cited by 27 publications

(20 citation statements)

References 31 publications

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“…All 1150 participants of the study gave informed consent prior to participation. All participants were interviewed, and completed a detailed questionnaire providing information including personal and family medical history, migraine symptoms, age of onset, frequency, severity and treatment as previously described (21,22). This questionnaire revealed that 78%…”

Section: Study Populationmentioning

confidence: 99%

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

et al. 2004

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Migraine is a painful and debilitating disorder with a significant genetic component. Steroid hormones, in particular estrogen, have long been considered to play a role in migraine, as variations in hormone levels are associated with migraine onset in many sufferers of the disorder. Steroid hormones mediate their activity via hormone receptors, which have a wide tissue distribution. Estrogen receptors have been localized to the brain in regions considered to be involved in migraine pathogenesis, hence it is possible that genetic variation in the estrogen receptor gene may play a role in migraine susceptibility. This study thus examined the estrogen receptor 1 (ESRα) gene for a potential role in migraine pathogenesis and susceptibility A population-based cohort of 224 migraine sufferers and 224 matched controls were genotyped for the G594A polymorphism located in exon 8 of the ESR1 gene. Statistical analysis indicated a significant difference between migraineurs and non-migraineurs in both the allele frequencies (P = 0.003) and genotype distributions (P = 0.008) in this sample.An independent follow-up study was then undertaken using this marker in an additional population based cohort of 260 migraine sufferers and 260 matched controls. This resulted in a significant association between the two groups with regard to allele frequencies (P = 8x10 -6 ) and genotype distributions (P = 4x10 -5 ).Our findings support the hypothesis that genetic variation in hormone receptors, in particular the estrogen receptor 1 gene, may play a role in migraine.

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Section: Study Populationmentioning

confidence: 99%

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

et al. 2004

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“…Different studies investigated the role of genetic variations of 5-HT receptors as risk factors for migraine, their role being still not completely understood [3][4][5]. A recent work suggested a link between 5-HTTLPR polymorphism and migraine with aura [6].…”

Section: Introductionmentioning

confidence: 99%

Functional serotonin 5–HTTLPR polymorphism is a risk factor for migraine with aura

et al. 2005

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“…There has been a comprehensive effort to investigate the physiological, pathophysiological and/or genetic actions of 5-HT interactions with tissue specific 5-HT receptor classes (Johnson et al 2003;Nyholt et al 1996), in addition to studies of the serotonin transporter (5-HTT) (Lea et al 2000). However, there have been limited studies relating to the biosynthetic and metabolic enzymes governing the rate of 5-HT and their relationship to migraine.…”

Section: Introductionmentioning

confidence: 99%

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach

Johnson

Griffiths

2005

J Hum Genet

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Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investigating biosynthetic and metabolic enzymes governing the rate of 5-HT activity and their relationship to migraine, it was the objective of this study to assess genetic variants within the human tryptophan hydroxylase (TPH), amino acid decarboxylase (AADC) and monoamine oxidase A (MAOA) genes in migraine susceptibility. This objective was undertaken using a highthroughput DNA pooling experimental design, which proved to be a very accurate, sensitive and specific method of estimating allele frequencies for single nucleotide polymorphism, insertion deletion and variable number tandem repeat loci. Application of DNA pooling to a wide array of genetic loci provides greater scope in the assessment of population-based genetic association study designs. Despite the application of this high-throughput genotyping method, negative results from the two-stage DNA pooling design used to screen loci within the TPH, AADC and MAOA genes did not support their role in migraine susceptibility.

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An investigation of the 5‐HT_2C receptor gene as a migraine candidate gene

Cited by 27 publications

References 31 publications

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

Functional serotonin 5–HTTLPR polymorphism is a risk factor for migraine with aura

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach

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An investigation of the 5‐HT2C receptor gene as a migraine candidate gene

Cited by 27 publications

References 31 publications

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups

Functional serotonin 5–HTTLPR polymorphism is a risk factor for migraine with aura

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach

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An investigation of the 5‐HT_2C receptor gene as a migraine candidate gene