A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population
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- 作者：Caroline Brorsson ; Regine Bergholdt ; Marketa Sjö ; gren ; Stefanie Eising ; Karina Meden Sø ; rensen ; David M. Hougaard ; Marju Orho-Mel ; er ; Leif Groop ; Flemming Pociot
- 关键词：SLC30A8 ; Zinc transporter ; Type 1 diabetes ; Genetics ; β ; -Cell function
- 刊名：Molecular Genetics and Metabolism
- 出版年：2008
- 出版时间：July 2008
- 年：2008
- 卷：94
- 期：3
- 页码：386-388
- 全文大小：153 K
文摘
Genome-wide association scans in type 2 diabetes (T2D) have identified a risk variant, rs13266634 (Arg325Trp), in SLC30A8 on chromosome 8. SLC30A8 encodes a β-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.