title: Analysis of 3 common polymorphisms in the KCNK18 gene in an Australian Migraine case-control cohort.
abstract: Migraine is a common neurological disorder characterised by temporary disabling attacks of severe head pain and associated disturbances. There is significant evidence to suggest a genetic aetiology to the disease however few causal mutations have been conclusively linked to the migraine subtypes Migraine with (MA) or without Aura (MO). The Potassium Channel, Subfamily K, member 18 (KCNK18) gene, coding the potassium channel TRESK, is the first gene in which a rare mutation resulting in a non-functional truncated protein has been identified and causally linked to MA in a multigenerational family. In this study, three common polymorphisms in the KCNK18 gene were analysed for genetic variation in an Australian case-control migraine population consisting of 340 migraine cases and 345 controls. No association was observed for the polymorphisms examined with the migraine phenotype or with any haplotypes across the gene. Therefore even though the KCNK18 gene is the only gene to be causally linked to MA our studies indicate that common genetic variation in the gene is not a contributor to MA.
authors.affiliation: Genomics Research Centre, Griffith Health Institute, School of Medical Science, Griffith University Gold Coast, Parklands Drive, Southport, Queensland 4215, Australia.
authors.forename: B H
authors.initials: BH
authors.lastname: Maher
authors.forename: M
authors.initials: M
authors.lastname: Taylor
authors.forename: S
authors.initials: S
authors.lastname: Stuart
authors.forename: R K
authors.initials: RK
authors.lastname: Okolicsanyi
authors.forename: B
authors.initials: B
authors.lastname: Roy
authors.forename: H G
authors.initials: HG
authors.lastname: Sutherland
authors.forename: L M
authors.initials: LM
authors.lastname: Haupt
authors.forename: L R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D001315:Australia; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015221:Potassium Channels / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C476574:KCNK18 protein, human; D015221:Potassium Channels
keywords: FHM; Familial hemiplegic migraine; KCNK18; MA; MO; Migraine; Migraine with Aura; Migraine with aura; Migraine without aura; Potassium channel, subfamily K, member 18 gene; RFLP; Restriction fragment length polymorphism; SNP; Single nucleotide polymorphism; TRESK; TWIK-related spinal cord potassium channel