SLC30A8基因中的一个非同义变体与丹麦人群中的1型糖尿病无关。
A non-synonymous variant in SLC30A8 is not associated with type 1 diabetes in the Danish population.
作者信息
Brorsson Caroline, Bergholdt Regine, Sjögren Marketa, Eising Stefanie, Sørensen Karina Meden, Hougaard David M, Orho-Melander Marju, Groop Leif, Pociot Flemming
机构信息
Steno Diabetes Center, Niels Steensensvej 1, DK-2820 Gentofte, Denmark.
出版信息
Mol Genet Metab. 2008 Jul;94(3):386-8. doi: 10.1016/j.ymgme.2008.02.011. Epub 2008 Apr 8.
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.
全基因组关联扫描在2型糖尿病（T2D）中已确定8号染色体上SLC30A8的一个风险变异rs13266634（Arg325Trp）。SLC30A8编码一种β细胞特异性锌离子转运体，且已表明rs13266634会影响胰岛素分泌。最近，在1型糖尿病（T1D）个体中发现了具有高预测价值的Slc30A8自身抗体，这使得该基因成为一个有趣的T1D候选基因。我们对来自丹麦的3008例病例和对照以及246个家庭中的rs13266634进行了基因分型。未发现与T1D有关联。
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