TABLE 1

Frequencies of CASQ1 SNPs in subjects with type 2 diabetes, IGT, and NGT

Minor allele frequency
Type 2 diabetes vs. NGT*
Type 2 diabetes + IGT vs. NGT*
SNP nameLocationPositionMajor/minor aleleType 2 diabetes (n = 145)IGT (n = 148)NGT (n = 358)OR (95% CI)POR (95% CI)P
CasqSNP15’ flank−1470C/T0.4710.4630.4211.33 (0.89–1.98)0.151.24 (0.92–1.68)0.17
Rs11866945’ flank−1404C/T0.2650.2500.2631.14 (0.78–1.66)0.470.98 (0.74–1.32)0.92
Rs3838216Intron 1+1074−/ggcattcagataggcct0.0920.1010.1390.73 (0.41–1.31)0.310.70 (0.44–1.08)0.091
Rs617698Intron 2+2312A/G0.2790.3270.3550.65 (0.42–0.99)0.0400.72 (0.52–1.00)0.047
Rs617599Intron 2+2399G/A0.2810.3390.3680.58 (0.32–1.07)0.0760.77 (0.47–1.26)0.42
Rs3747622Intron 2+2889G/C0.0710.0870.1240.64 (0.36–1.15)0.180.56 (0.33–0.94)0.026
CasqSNP4Exon 3+3059C/T0.0710.0590.0301.94 (0.87–4.31)0.0931.82 (0.93–3.59)0.064
Rs2275703Intron 4+4535C/A0.3120.3710.4260.57 (0.41–0.79)0.0080.64 (0.47–0.85)0.005
Rs822450Intron 7+7808G/A0.2800.3110.3410.70 (0.45–1.07)0.0920.75 (0.50–1.14)0.10
Rs3827532Intron 10+10171G/A0.0340.0260.0670.35 (0.10–1.32)0.130.26 (0.08–0.88)0.030
  • *

    * P values are based on genotype frequencies and ORs reflect the odds of disease associated with having two copies of the minor allele versus the odds of disease associated with having two copies of the major allele. For rs2275703 and rs617698, the ORs for type 2 diabetes of the major alleles are 1.75 (95% CI 1.27–2.43) and 1.54 (1.01–2.38), respectively. P values <0.05 are shown in bold.

  • The nucleotide position of each polymorphism is counted from the A of the ATG start codon, which was designated as position +1.