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Genet Mol Res. 2015 Apr 10;14(2):3002-9. doi: 10.4238/2015.April.10.10.

Relationship between serum GAD-Ab and the genetic polymorphisms of GAD2 and type 2 diabetes mellitus.

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Department of Laboratory Medicine, People's Hospital of Changshou, Chongqing, China
Department of Endocrinology, People's Hospital of Changshou, Chongqing, China.
Department of Laboratory Medicine, People's Hospital of Changshou, Chongqing, China.


In this study, we investigated the relationship between serum glutamic acid decarboxylase (GAD) autoantibody (Ab) levels and single nucleotide polymorphisms (SNPs) of the glutamic acid de-carboxylase 2 (GAD2) 5'-untranslated region and the susceptibility to type 2 diabetes in the Han population. The distributions of patients with SNPs in the GAD2 5'-untranslated region (rs2236418, rs185649317, and rs8190590) and type 2 diabetes and that of the healthy group were genotyped and analyzed using Sequenom MassArray SNP genotyp-ing. GAD-Ab levels were also detected. The frequency distributions of the AA, AG, and GG genotypes in the polymorphic site rs2236418 in the diabetes GAD-Ab-positive group were 45.9, 42.8, and 11.4%, respectively, whereas those in the control group were 36.6, 43.7, and 19.8%, respectively. The difference between the 2 groups was statis-tically significant (P < 0.05). Unlike the GG genotype, the AA and AA + AG genotypes increased the risk of GAD-Ab (odds ratios (95% confidence intervals) = 2.623 (1.351-4.937) and 2.152 (1.375-4.202), respectively). The associations of the 3 SNPs of the GAD2 gene 5'-un-translated region polymorphisms with susceptibility to type 2 diabe-tes in the Chongqing Han population were significant. The SNP of rs2236418 in the Chongqing Han population of diabetic patients with serum GAD-Ab levels was significantly correlated with the SNPs rs185649317 and rs8190590.

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