title: Lack of association of PAX4 gene with type 1 diabetes in the Finnish and Hungarian populations.
abstract: We aimed to assess the possible contribution of the PAX4 transcription factor gene to the genetic background of type 1 diabetes. We analyzed four coding polymorphisms of the PAX4 gene in 498 cases with type 1 diabetes and 825 control subjects from Finland and Hungary. All patients were diagnosed under the age of 15 years according to the World Health Organization criteria. All four PAX4 variants (three in exon 9 and one in exon 3) were genotyped using DNA sequencing. In addition, all Finnish subjects were typed for HLA DR-DQ, insulin gene (-23) HphI, and CTLA4 CT60 polymorphisms. The +1,168 C/A coding variant of PAX4 was found to be polymorphic in both populations (P321H, rs712701). No difference was observed in the genotype frequencies between cases and control subjects, nor was any disease association detected when patients were stratified according to age at diagnosis, sex, HLA, insulin gene, or CTLA4 genotypes. Our data indicate that the +1,168 C/A variant of PAX4 gene does not play any essential role in genetic type 1 diabetes susceptibility. The strong coherence between the datasets of the two ethnic groups studied with highly contrasting disease incidence, socioeconomic characteristics, and profoundly diverse environment emphasizes the impact of this finding.
authors.affiliation: Department of Virology, University of Turku, Kiinamyllynkatu 13, FIN-20520 Turku, Finland. robert.hermann@utu.fi
authors.forename: Robert
authors.initials: R
authors.lastname: Hermann
authors.forename: Jussi
authors.initials: J
authors.lastname: Mantere
authors.forename: Kati
authors.initials: K
authors.lastname: Lipponen
authors.forename: Riitta
authors.initials: R
authors.lastname: Veijola
authors.forename: Gyula
authors.initials: G
authors.lastname: Soltesz
authors.forename: Timo
authors.initials: T
authors.lastname: Otonkoski
authors.forename: Olli
authors.initials: O
authors.lastname: Simell
authors.forename: Mikael
authors.initials: M
authors.lastname: Knip
authors.forename: Jorma
authors.initials: J
authors.lastname: Ilonen
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002980:Climate; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006814:Hungary; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051761:Paired Box Transcription Factors / Q000235:genetics*; D012959:Socioeconomic Factors
chemical_list: D018398:Homeodomain Proteins; C491709:PAX4 protein, human; D051761:Paired Box Transcription Factors