TABLE 1

Genotype and allele frequencies for SNPs in PRKAA2 in case and control samples (initial samples)

SNP ID*Distance from ATGLocationGenotype frequency
Minor allele frequency
Geno-typeCase (n = 192)Control (n = 272)P valueCase/ ControlP value§Odds ratio (95% CI)
−1439A>T−1439PromoterAA114 (0.59)149 (0.55)0.570.22/0.250.310.85 (0.62–1.16)
AT71 (0.37)110 (0.40)
TT7 (0.04)13 (0.05)
SNP1rs205104031695Intron 2GG64 (0.33)106 (0.39)0.380.41/0.370.161.21 (0.92–1.58)
GA95 (0.50)129 (0.47)
AA33 (0.17)37 (0.14)
rs279649231711Intron 2CC77 (0.40)85 (0.31)0.140.37/0.420.110.80 (0.61–1.05)
CT87 (0.45)143 (0.53)
TT28 (0.15)44 (0.16)
rs279649331720Intron 2GG76 (0.39)83 (0.31)0.120.37/0.430.070.78 (0.60–1.04)
GA88 (0.46)142 (0.52)
AA28 (0.15)47 (0.17)
SNP2rs279649531919Intron 2GG75 (0.39)82 (0.30)0.130.37/0.430.090.80 (0.60–1.04)
GA90 (0.47)146 (0.54)
AA27 (0.16)44 (0.16)
46991G>A46991Exon 4GG134 (0.70)176 (0.65)0.500.17/0.200.240.81 (0.58–1.14)
GA52 (0.27)85 (0.31)
AA6 (0.03)11 (0.04)
SNP3rs214375447801Intron 4TT70 (0.36)83 (0.30)0.150.40/0.460.060.77 (0.59–1.01)
TC92 (0.48)128 (0.47)
CC30 (0.16)61 (0.23)
SNP4rs141844248077Intron 4AA110 (0.57)144 (0.53)0.600.24/0.260.480.89 (0.66–1.21)
AG73 (0.38)116 (0.43)
GG9 (0.05)12 (0.04)
SNP5rs93244759169Intron 7AA113 (0.59)155 (0.57)0.810.22/0.220.831.04 (0.76–1.42)
AG73 (0.38)110 (0.40)
GG6 (0.03)7 (0.03)
SNP6rs3738568625313′ UTRTT153 (0.80)198 (0.73)0.220.11/0.150.120.73 (0.49–1.08)
TC35 (0.18)68 (0.25)
CC4 (0.02)6 (0.02)
  • *

    * Newly identified SNPs are shown in boldface.

  • A of the start codon is counted as 1. P values for

  • genotype frequency and

  • §

    § allele frequency. UTR, untranslated region.