title: Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.
abstract: A recent study has suggested that the g.961C >G (p.Ser278Arg) variant of the autoimmune regulator (AIRE) gene contributes to susceptibility to alopecia areata (AA). We attempted to replicate this finding using a case-control sample of Belgian-German origin (273 patients and 283 controls). Despite adequate power, our study results do not support a significant association of the risk allele in our AA patient sample. This remained the case when we stratified our sample according to severity and family history of disease. Our study results do not support the hypothesis that the g.961C >G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Pforr
authors.forename: B
authors.initials: B
authors.lastname: Blaumeiser
authors.forename: T
authors.initials: T
authors.lastname: Becker
authors.forename: Y
authors.initials: Y
authors.lastname: Freudenberg-Hua
authors.forename: S
authors.initials: S
authors.lastname: Hanneken
authors.forename: S
authors.initials: S
authors.lastname: Eigelshoven
authors.forename: I
authors.initials: I
authors.lastname: Cuyt
authors.forename: J
authors.initials: J
authors.lastname: De Weert
authors.forename: J
authors.initials: J
authors.lastname: Lambert
authors.forename: R
authors.initials: R
authors.lastname: Kruse
authors.forename: M M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: R C
authors.initials: RC
authors.lastname: Betz
mesh_terms: D000483:Alleles; D000506:Alopecia Areata / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D014157:Transcription Factors / Q000235:genetics*; D044465:White People / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein