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. 2011 May 5;21(3):223–235. doi: 10.2188/jea.JE20100139

Table 4. Genotype distributions and allele frequencies of 108 selected genetic polymorphisms (107 SNPs and 1 insertion/deletion polymorphism).

Gene Polymorphism rs number Genotypea na Frequency (proportion) P for
HWE
MAF

Observed Expectedb




AA Aa aa AA Aa aa XX AA Aa aa AA Aa aa
ABCA1 C-565T rs2422493 CC CT TT 1634 2137 746 2 0.362 0.473 0.165 0.358 0.481 0.161 0.29 0.402
ABCA1 G-191C rs1800976 GG GC CC 1628 2144 746 1 0.360 0.475 0.165 0.357 0.481 0.162 0.37 0.402
ABCA1 G-17C rs2740483 GG GC CC 2211 1898 409 1 0.489 0.420 0.091 0.489 0.420 0.090 0.94 0.301
ABCA1 Val825Ile (G/A) rs2066715 GG GA AA 1877 2064 577 1 0.415 0.457 0.128 0.415 0.459 0.127 0.80 0.356
ABCA1 Val771Met (G/A) rs2066718 GG GA AA 3945 550 23 1 0.873 0.122 0.005 0.872 0.123 0.004 0.40 0.066
ABCA1 Arg1587Lys (G/A) rs2230808 GG GA AA 1673 2154 689 3 0.370 0.477 0.153 0.371 0.476 0.153 0.95 0.391
ABCC11 Arg180Gly (T/C) rs17822931 TT TC CC 3368 1051 95 5 0.746 0.233 0.021 0.744 0.237 0.019 0.23 0.137
ACE Insertion/Deletion (I/D) rs1799752 I/I I/D D/D 1854 2021 634 10 0.411 0.448 0.141 0.404 0.463 0.133 0.029 0.365
ADD1 Trp460Gly (T/G) rs4961 TT TG GG 1399 2163 956 1 0.310 0.479 0.212 0.301 0.495 0.203 0.026 0.451
ADH1B His47Arg (A/G) rs1229984 AA AG GG 2607 1659 250 3 0.577 0.367 0.055 0.579 0.364 0.057 0.54 0.239
ADH1C Arg272Gln (C/T) rs1693482 CC CT TT 3882 591 43 3 0.860 0.131 0.010 0.856 0.139 0.006 0.0005 0.075
ADIPOQ C-11377G rs266729 CC CG GG 2553 1663 301 2 0.565 0.368 0.067 0.561 0.376 0.063 0.18 0.251
ADIPOQ Gly15Gly (T/G) rs2241766 TT TG GG 2314 1789 415 1 0.512 0.396 0.092 0.504 0.412 0.084 0.011 0.290
ADIPOQ G276T rs1501299 GG GT TT 2498 1674 346 1 0.553 0.371 0.077 0.545 0.387 0.069 0.006 0.262
ADIPOQ IVS-3971A/G rs822396 AA AG GG 3984 517 16 2 0.882 0.114 0.004 0.882 0.114 0.004 1.00 0.061
ADIPOR1 G-8503A rs6666089 GG GA AA 4234 272 7 6 0.938 0.060 0.002 0.938 0.061 0.001 0.22 0.032
ADIPOR1 C5843T rs1342387 CC CT TT 1230 2206 1073 10 0.273 0.489 0.238 0.268 0.499 0.233 0.17 0.483
ADIPOR1 C10224G rs7539542 CC CG GG 2788 1505 225 1 0.617 0.333 0.050 0.614 0.339 0.047 0.24 0.216
ADRB2 Gln27Glu (C/G) rs1042714 CC CG GG 3943 551 20 5 0.874 0.122 0.004 0.873 0.122 0.004 0.81 0.065
ADRB3 Trp64Arg (T/C) rs4994 TT TC CC 2932 1397 182 8 0.650 0.310 0.040 0.648 0.314 0.038 0.34 0.195
AGT Thr174Met (C/T) rs4762 CC CT TT 3615 848 52 4 0.801 0.188 0.012 0.800 0.189 0.011 0.75 0.105
AGT Thr235Met (C/T) rs699 CC CT TT 2989 1372 157 1 0.662 0.304 0.035 0.662 0.304 0.035 1.00 0.187
AGTR1(ATR1) A1166C (at 3′UTR) rs5186 AA AC CC 3777 695 45 2 0.836 0.154 0.010 0.834 0.159 0.008 0.048 0.087
ALDH2 Glu487Lys (G/A) rs671 GG GA AA 2544 1649 321 5 0.564 0.365 0.071 0.557 0.379 0.064 0.018 0.254
APOA1 Ala61Thr (C/T) rs12718465 CC CT TT 4036 463 18 2 0.894 0.103 0.004 0.893 0.104 0.003 0.25 0.055
APOA1 Arg184Pro (G/C) rs5078 GG GC CC 4512 0 0 7 1.000 0.000 0.000 1.000 0.000 0.000 1.00 0.000
APOA5 T-1131C rs662799 TT TC CC 1955 2001 556 7 0.433 0.443 0.123 0.429 0.452 0.119 0.21 0.345
APOA5 Gly185Cys (G553T) rs2075291 GG GT TT 3920 559 32 8 0.869 0.124 0.007 0.867 0.129 0.005 0.020 0.069
APOE T-203G rs405509 TT TG GG 2213 1847 451 8 0.491 0.409 0.100 0.483 0.424 0.093 0.025 0.305
APOE Arg158Cys (C/T) (at exon2) rs7412 CC CT TT 4140 369 9 1 0.916 0.082 0.002 0.916 0.082 0.002 0.72 0.043
APOE Cys112Arg (T/C) (at exon4) rs429358 TT TC CC 3669 782 67 1 0.812 0.173 0.015 0.808 0.182 0.010 0.001 0.101
ARNTL(BMAL1) A/G rs7950226 AA AG GG 1638 2102 773 6 0.363 0.466 0.171 0.355 0.482 0.163 0.028 0.404
ART4(DOK1) Leu208Leu (G/A) rs3088189 GG GA AA 3595 875 47 2 0.796 0.194 0.010 0.797 0.192 0.012 0.48 0.107
ART4(DOK1) Asp265Asn (G/A) rs11276 GG GA AA 3597 872 48 2 0.796 0.193 0.011 0.797 0.191 0.011 0.59 0.107
BHMT Arg239Gln (G742A) rs3733890 GG GA AA 2765 1511 241 2 0.612 0.335 0.053 0.607 0.344 0.049 0.069 0.221
CBS Tyr233Tyr (C699T) rs234706 CC CT TT 4302 212 2 3 0.953 0.047 0.000 0.953 0.047 0.001 1.00 0.024
CD14 T-260C/T-159C rs2569190 TT TC CC 1304 2256 958 1 0.289 0.499 0.212 0.290 0.497 0.213 0.79 0.462
CDKAL1 G/C rs7754840 GG GC CC 1581 2195 740 3 0.350 0.486 0.164 0.352 0.483 0.166 0.64 0.407
CDKN2A/B T/C rs10811661 TT TC CC 1379 2205 934 1 0.305 0.488 0.207 0.302 0.495 0.203 0.34 0.451
CETP A-629C rs1800775 AA AC CC 1384 2242 891 2 0.306 0.496 0.197 0.308 0.494 0.198 0.76 0.445
CETP Ile405Val (A/G) rs5882 AA AG GG 1236 2116 1166 1 0.274 0.468 0.258 0.258 0.500 0.242 <0.0001 0.492
CETP TaqIB (C/T) rs708272 CC CT TT 1603 2174 741 1 0.355 0.481 0.164 0.354 0.482 0.164 0.93 0.405
CETP G/T rs3764261 GG GT TT 2707 1512 298 2 0.599 0.335 0.066 0.588 0.358 0.054 <0.0001 0.233
CHRNB2 G-42A rs2072658 GG GA AA 2837 1518 161 3 0.628 0.336 0.036 0.634 0.324 0.042 0.015 0.204
CHRNB2 C/T (at 3′UTR) rs2072660 CC CT TT 2601 1641 275 2 0.576 0.363 0.061 0.574 0.367 0.059 0.44 0.243
COMT Val158Met (G/A) rs4680 GG GA AA 2006 1983 528 2 0.444 0.439 0.117 0.440 0.446 0.113 0.27 0.336
CYP1A1 Ile462Val (A/G) rs1048943 AA AG GG 2630 1620 268 1 0.582 0.359 0.059 0.580 0.363 0.057 0.39 0.239
CYP1A2 A734C rs762551 AA AC CC 1878 2043 592 6 0.416 0.453 0.131 0.413 0.459 0.128 0.33 0.358
CYP11B2 T-344C rs1799998 TT TC CC 2031 1976 507 5 0.450 0.438 0.112 0.447 0.443 0.110 0.42 0.331
CYP17A1 T-34C rs743572 TT TC CC 1281 2257 977 4 0.284 0.500 0.216 0.285 0.498 0.217 0.79 0.466
ESR1 IVS1-351A/G (Xba I) rs11155816 AA AG GG 4515 0 0 4 1.000 0.000 0.000 1.000 0.000 0.000 1.00 0.000
ESR1 IVS1-397T/C (Pvu II) rs2234693 TT TC CC 1508 2172 834 5 0.334 0.481 0.185 0.330 0.489 0.181 0.30 0.425
ESR2 Val328Val (G1082A) (Rsa I) rs1256049 GG GA AA 2320 1823 373 3 0.514 0.404 0.083 0.512 0.407 0.081 0.58 0.284
FTO T/A rs9939609 TT TA AA 2881 1454 183 1 0.638 0.322 0.041 0.638 0.322 0.041 1.00 0.201
GCK G-30A rs1799884 GG GA AA 2989 1348 181 1 0.662 0.298 0.040 0.657 0.307 0.036 0.065 0.189
GCKR A/G rs780094 AA AG GG 1379 2221 917 2 0.305 0.492 0.203 0.304 0.495 0.201 0.67 0.449
GCKR Leu446Pro (T/C) rs1260326 TT TC CC 1402 2214 902 1 0.310 0.490 0.200 0.308 0.494 0.198 0.61 0.445
GNAS1 T393C rs7121 TT TC CC 1466 2233 817 3 0.325 0.494 0.181 0.327 0.490 0.183 0.52 0.428
IGF2BP2 G/T (at intron) rs4402960 GG GT TT 2215 1866 436 2 0.490 0.413 0.097 0.486 0.422 0.092 0.14 0.303
IL-1B T-31C rs1143627 TT TC CC 1331 2196 990 2 0.295 0.486 0.219 0.289 0.497 0.214 0.14 0.462
IL-2 T-330G rs2069762 TT TG GG 2033 1986 494 6 0.450 0.440 0.109 0.450 0.442 0.109 0.79 0.329
IL-4 T-33C rs2070874 TT TC CC 1997 1989 531 2 0.442 0.440 0.118 0.439 0.447 0.114 0.30 0.338
IL-6 C-634G rs1800796 CC CG GG 2611 1607 298 3 0.578 0.356 0.066 0.572 0.369 0.059 0.019 0.244
IL-8 T-251A rs4073 TT TA AA 2077 1952 463 27 0.462 0.435 0.103 0.462 0.435 0.103 0.89 0.320
IL-10 T-819C rs1800871 TT TC CC 1942 2009 557 11 0.431 0.446 0.124 0.427 0.453 0.120 0.29 0.346
IL-13 C-1111T rs1800925 CC CT TT 3009 1359 147 4 0.666 0.301 0.033 0.667 0.299 0.034 0.69 0.183
KCNJ11 Glu23Lys (C/T) rs5219 CC CT TT 1822 2081 615 1 0.403 0.461 0.136 0.401 0.464 0.134 0.59 0.366
LCAT/SLC12A4 Ser232Thr (T/A) rs4986970 TT TA AA 4516 0 0 3 1.000 0.000 0.000 1.000 0.000 0.000 1.00 0.000
LIPC T-514C rs1800588 TT TC CC 1178 2255 1085 1 0.261 0.499 0.240 0.260 0.500 0.240 0.93 0.490
LIPC Val95Met (G/A) rs6078 GG GA AA 2659 1606 252 2 0.589 0.356 0.056 0.587 0.358 0.055 0.65 0.234
MPO G-463A rs2333227 GG GA AA 3612 852 52 3 0.800 0.189 0.012 0.800 0.189 0.011 0.81 0.106
MTHFD1 Arg134Lys (C401T) rs1950902 CC CT TT 2773 1517 228 1 0.614 0.336 0.050 0.611 0.341 0.048 0.28 0.218
MTHFD1 Arg653Gln (G1958A) rs2236225 GG GA AA 2340 1790 384 5 0.518 0.397 0.085 0.514 0.406 0.080 0.12 0.283
MTHFR Ala222Val (C677T) rs1801133 CC CT TT 1763 2060 694 2 0.390 0.456 0.154 0.382 0.472 0.146 0.023 0.382
MTHFR Glu429Ala (A1298C) rs1801131 AA AC CC 3023 1323 169 4 0.670 0.293 0.037 0.666 0.300 0.034 0.11 0.184
MTR Asp919Gly (A/G) rs1805087 AA AG GG 2883 1446 185 5 0.639 0.320 0.041 0.638 0.321 0.040 0.82 0.201
MTRR Ile22Met (A66G) rs1801394 AA AG GG 2155 1925 436 3 0.477 0.426 0.097 0.477 0.428 0.096 0.83 0.310
NOS3 T-786C rs2070744 TT TC CC 3602 863 48 6 0.798 0.191 0.011 0.799 0.190 0.011 0.70 0.106
PPARD T-842C (at exon3) rs2267668 TT TC CC 2922 1421 172 4 0.647 0.315 0.038 0.647 0.315 0.038 1.00 0.195
PPARD T-48444C (at exon3) rs6902123 TT TC CC 4343 173 2 1 0.961 0.038 0.000 0.961 0.038 0.000 0.69 0.020
PPARD Asn163Asn (A65G) (at exon7) rs2076167 AA AG GG 2780 1530 204 5 0.616 0.339 0.045 0.617 0.337 0.046 0.76 0.215
PPARG Pro12Ala (C/G) rs1801282 CC CG GG 4236 274 5 4 0.938 0.061 0.001 0.938 0.061 0.001 0.80 0.031
PPARG His477His (C161T) rs3856806 CC CT TT 3231 1198 86 4 0.716 0.265 0.019 0.720 0.257 0.023 0.043 0.152
PPARGC1A Thr394Thr (C/T) rs2970847 CC CT TT 2755 1539 221 4 0.610 0.341 0.049 0.609 0.343 0.048 0.76 0.219
PPARGC1A Gly482Ser (G/A) rs8192678 GG GA AA 1317 2247 952 3 0.292 0.498 0.211 0.292 0.497 0.211 0.93 0.460
PRKAA2 IVS4+961T/C rs1418442 TT TC CC 2677 1581 251 10 0.594 0.351 0.056 0.591 0.355 0.053 0.38 0.231
PRKAA2 IVS7+81T/C rs932447 TT TC CC 2679 1585 252 3 0.593 0.351 0.056 0.591 0.356 0.053 0.38 0.231
PRKAA2 A/T (at 3′UTR) rs1342382 AA AT TT 2739 1556 218 6 0.607 0.345 0.048 0.607 0.344 0.049 0.90 0.221
PTGS2(COX2) G-765C rs20417 GG GC CC 4260 247 6 6 0.944 0.055 0.001 0.943 0.056 0.001 0.27 0.029
PTGS2(COX2) C-163G rs5270 CC CG GG 4379 136 3 1 0.969 0.030 0.001 0.969 0.031 0.000 0.10 0.016
PTPN11 G33861A rs2301756 GG GA AA 2926 1418 174 1 0.648 0.314 0.039 0.647 0.314 0.038 0.89 0.195
RETN C-420G rs1862513 CC CG GG 1956 1977 585 1 0.433 0.438 0.129 0.425 0.454 0.121 0.015 0.348
SCARB1 Val135Ile (G/A) rs5891 GG GA AA 4518 0 0 1 1.000 0.000 0.000 1.000 0.000 0.000 1.00 0.000
SCARB1 Ala350Ala (C1119T) rs5888 CC CT TT 2678 1619 221 1 0.593 0.358 0.049 0.596 0.352 0.052 0.25 0.228
SCARB1 G/A (at intron) rs3782287 GG GA AA 2676 1574 268 1 0.592 0.348 0.059 0.588 0.358 0.055 0.074 0.234
SERPINC1 C/G rs677 CC CG GG 2762 1527 227 3 0.612 0.338 0.050 0.609 0.342 0.048 0.41 0.219
SHMT1 Leu435Phe (C1420T) rs1979277 CC CT TT 3755 722 41 1 0.831 0.160 0.009 0.830 0.162 0.008 0.36 0.089
SLC19A(RFC1) His27Arg (A80G) rs1051266 AA AG GG 1536 2187 793 3 0.340 0.484 0.176 0.339 0.486 0.175 0.76 0.418
SLC30A8 Arg325Trp (C/T) rs13266634 CC CT TT 1543 1992 976 8 0.342 0.442 0.216 0.317 0.492 0.191 <0.0001 0.437
SRD5A2 Leu89Val (C/G) rs523349 CC CG GG 1334 2286 896 3 0.295 0.506 0.198 0.301 0.495 0.204 0.15 0.452
TAS2R38 Pro49Ala (C/G) rs713598 CC CG GG 1399 2219 898 3 0.310 0.491 0.199 0.309 0.494 0.198 0.74 0.445
TAS2R38 Ala262Val (C/T) rs1726866 CC CT TT 1401 2218 899 1 0.310 0.491 0.199 0.309 0.494 0.198 0.70 0.444
TAS2R38 Val296Ile (C/T) rs10246939 CC CT TT 1401 2218 898 2 0.310 0.491 0.199 0.309 0.494 0.197 0.72 0.444
TCF7L2 C/T (at intron) rs7903146 CC CT TT 4174 333 11 1 0.924 0.074 0.002 0.923 0.075 0.002 0.11 0.039
TNF-A T-1031C rs1799964 TT TC CC 3147 1244 127 1 0.697 0.275 0.028 0.696 0.277 0.027 0.75 0.166
TNF-A C-857T rs1799724 CC CT TT 2990 1365 162 2 0.662 0.302 0.036 0.661 0.304 0.035 0.70 0.187
USF1 C7131T rs3737787 CC CT TT 2793 1506 218 2 0.618 0.333 0.048 0.616 0.338 0.046 0.43 0.215
VDR Met1Thr (Fok I) (C/T) rs2228570 CC CT TT 1768 2105 643 3 0.391 0.466 0.142 0.390 0.469 0.141 0.68 0.375

Abbreviations: HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency; SNP, single nucleotide polymorphism.

aAA, Aa, aa, and XX indicate homozygotes of major alleles, heterozygotes, homozygotes of minor alleles, and samples for which the genotype could not be determined, respectively.

bBased on the Hardy–Weinberg equilibrium.