Table 1.
X2P values
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Variants | Subject | NN | NM | MM | Multiple allele frequency | HWE* | Additive† | Codominant‡ | Recessive§ | Dominant¶ | |
KLF11 | |||||||||||
1 | Adjacent sequence (AS) | Control | 244 | 62 | 4 | 0.11 | 0.98 | ||||
−1,659 G>C | T2DM | 202 | 88 | 8 | 0.17 | 0.67 | 0.0022 | 0.0084 | 0.22 | 0.0023 | |
7 | Promoter −86 del/ins | 5-5 | 5-4/5-6 | 4-4/4-6/6-6 | 4/6 | ||||||
(GCC)∥ | Control | 145 | 127/16 | 20/2/0 | 0.27/0.03 | 0.24 | 0.08‡‡ | 0.15‡‡ | |||
T2DM | 130 | 129/6 | 31/1/0 | 0.32/0.01 | 0.76 | 0.03** | 0.17†† | 0.31§§ | 0.07§§ | ||
9 | Exon 2 + 185 A>G, | Control | 252 | 58 | 3 | 0.10 | 0.87 | ||||
Gln62Arg | T2DM | 211 | 95 | 7 | 0.17 | 0.33 | 0.00023 | 0.00083 | 0.20 | 0.00019 | |
11 | Exon 3 + 1185 A>T, | Control | 202 | 96 | 13 | 0.20 | 0.71 | ||||
Val395Val | T2DM | 192 | 100 | 7 | 0.19 | 0.15 | 0.81 | 0.39 | 0.20 | 0.85 | |
12 | IVS3 + 976 T>C | Control | 198 | 96 | 14 | 0.20 | 0.59 | ||||
T2DM | 191 | 102 | 8 | 0.20 | 0.19 | 0.82 | 0.39 | 0.21 | 0.83 | ||
14 | IVS3 + 1,331 T>C | Control | 282 | 30 | 1 | 0.05 | 0.83 | ||||
T2DM | 262 | 22 | 0 | 0.04 | 0.50 | 0.30 | 0.46 | 0.34 | 0.35 | ||
16 | IVS3 + 1,398 del(A) | Control | 239 | 57 | 2 | 0.10 | 0.48 | ||||
T2DM | 192 | 93 | 7 | 0.17 | 0.27 | 0.00055 | 0.0021 | 0.09 | 0.000077 | ||
17 | AS + 343 G>T | Control | 240 | 64 | 2 | 0.11 | 0.56 | ||||
T2DM | 207 | 89 | 7 | 0.17 | 0.68 | 0.0031 | 0.0096 | 0.09 | 0.0047 | ||
18 | AS + 1,357 C>T | Control | 194 | 91 | 13 | 0.20 | 0.58 | ||||
T2DM | 195 | 101 | 9 | 0.20 | 0.34 | 0.96 | 0.56 | 0.36 | 0.76 | ||
Non-KLF11 | |||||||||||
2 | TAF1B-SL1 + 16 T>G, | Control | 88 | 138 | 64 | 0.46 | 0.48 | ||||
Ser6Ala | T2DM | 97 | 139 | 61 | 0.44 | 0.41 | 0.51 | 0.81 | 0.65 | 0.55 | |
6 | LBP32 + 1189 C>T, | Control | 180 | 111 | 14 | 0.23 | 0.63 | ||||
Ile419Val | T2DM | 183 | 108 | 12 | 0.22 | 0.50 | 0.67 | 0.90 | 0.70 | 0.73 | |
17 | KLF11 AS + 2,541 A>G | Control | 240 | 61 | 3 | 0.11 | 1.00 | ||||
T2DM | 214 | 88 | 6 | 0.16 | 0.53 | 0.0069 | 0.022 | 0.32 | 0.0064 | ||
21 | AK091299 UTR | Control | 245 | 59 | 4 | 0.11 | 0.77 | ||||
+2,422 A>T | T2DM | 207 | 87 | 7 | 0.17 | 0.68 | 0.0028 | 0.095 | 0.34 | 0.0024 | |
25 | AK091299 UTR | Control | 174 | 123 | 10 | 0.23 | 0.04§§ | ||||
+3,107 G>A | T2DM | 154 | 128 | 22 | 0.28 | 0.57 | 0.05 | 0.06 | 0.03 | 0.14 | |
44 | rs7587317 (genomic) | Control | 263 | 145 | 19 | 0.21 | 1.00 | ||||
T2DM | 180 | 108 | 16 | 0.17 | 1.00 | 0.08 | 0.22 | 0.10 | 0.33 | ||
47 | RRM2 IVS8-177 A/G | Control | 163 | 142 | 26 | 0.29 | 0.60 | ||||
T2DM | 171 | 118 | 17 | 0.25 | 0.65 | 0.07 | 0.19 | 0.10 | 0.07 |
Frequency analysis of variants showing a suggestive T2DM association in a pilot study (P < 0.2).
X2 test for deviations from the Hardy-Weinberg equilibrium.
X2 test for differences of allele frequencies between control and T2DM subjects.
X2 test for differences of genotype frequencies between control and T2DM subjects under a codominant model.
X2 test for differences of genotype frequencies between control and T2DM subjects under a recessive model.
X2 test for differences of genotype frequencies between control and T2DM subjects under a dominant model.
Triallelic variant with four, five, and six GCC repeats that was analyzed in a 2 × 3 contingency table with genotype frequencies.
Triallelic variant with four, five, and six GCC repeats that was analyzed with allele frequencies and a 2 × 6 contingency table with genotype frequencies.
Analyses in the recessive model of 4-4 alleles vs. all others, and in the dominant model of 4-4, 4-5, and 4-6 alleles vs. 5-5 and 5-6 alleles.
Analyses in the recessive model of 6-6 alleles vs. all others, and in the dominant model of 5-6, 4-6, and 6-6 alleles vs. 5-5, 5-4, and 4-4 alleles.
Deviated from HWE, 3.2% of the genotypes were reanalyzed without observing errors. By using an Armitage's trend test, which is robust to Hardy-Weinberg (13), this SNP is associated with T2DM, P = 0.04.