A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.
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.
Brorsson
Caroline
C
Steno Diabetes Center, Niels Steensensvej 1, DK-2820 Gentofte, Denmark.
Bergholdt
Regine
R
Sjögren
Marketa
M
Eising
Stefanie
S
Sørensen
Karina Meden
KM
Hougaard
David M
DM
Orho-Melander
Marju
M
Groop
Leif
L
Pociot
Flemming
F
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
D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8