title: A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.
abstract: Genome-wide association scans in type 2 diabetes (T2D) have identified a risk variant, rs13266634 (Arg325Trp), in SLC30A8 on chromosome 8. SLC30A8 encodes a beta-cell specific zinc-ion transporter and rs13266634 has been shown to affect insulin secretion. Recently, autoantibodies for Slc30A8 with high predictive value were demonstrated in individuals with type 1 diabetes (T1D), making this gene an interesting T1D candidate gene. We genotyped rs13266634 in 3008 cases and controls and 246 families from Denmark. Association to T1D could not be demonstrated.
authors.affiliation: Steno Diabetes Center, Niels Steensensvej 1, DK-2820 Gentofte, Denmark.
authors.forename: Caroline
authors.initials: C
authors.lastname: Brorsson
authors.forename: Regine
authors.initials: R
authors.lastname: Bergholdt
authors.forename: Marketa
authors.initials: M
authors.lastname: Sjögren
authors.forename: Stefanie
authors.initials: S
authors.lastname: Eising
authors.forename: Karina Meden
authors.initials: KM
authors.lastname: Sørensen
authors.forename: David M
authors.initials: DM
authors.lastname: Hougaard
authors.forename: Marju
authors.initials: M
authors.lastname: Orho-Melander
authors.forename: Leif
authors.initials: L
authors.lastname: Groop
authors.forename: Flemming
authors.initials: F
authors.lastname: Pociot
mesh_terms: D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003718:Denmark; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005190:Family; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011153:Population / Q000235:genetics; D000075703:Zinc Transporter 8
chemical_list: D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8