Table 3 Population Caucasian allele frequencies stratified by self reported region of ancestry
Gene | Polymorphism | Allele (MA) | White Caucasian MAF (95% CI) | British and Irish Isles MAF (95% CI) | Eastern Europe MAF (95% CI) | Germany MAF (95% CI) | Scandinavia MAF (95% CI) | P value |
|---|---|---|---|---|---|---|---|---|
LEPR | rs1137101 | G(A) | 0.544 (0.539-0.549) | 0.554 (0.536-0.572) | 0.523 (0.498-0.548) | 0.544 (0.536-0.552) | 0.500 (0.473-0.527) | 0.032 |
RNASEL | rs486907 | G(A) | 0.379 (0.374-0.384) | 0.363 (0.345-0.381) | 0.381 (0.357-0.405) | 0.384 (0.377-0.391) | 0.376 (0.350-0.402) | 0.553 |
APOB | rs1042031 | G(A) | 0.18 (0.176-0.184) | 0.190 (0.176-0.204) | 0.179 (0.160-0.198) | 0.184 (0.178-0.190) | 0.153 (0.133-0.173) | 0.143 |
CTLA4 | rs231775 | A(G) | 0.386 (0.381-0.391) | 0.394 (0.376-0.412) | 0.422 (0.397-0.447) | 0.373 (0.366-0.380) | 0.422 (0.395-0.449) | <0.0001 |
AGTR1 | rs5186 | A(C) | 0.299 (0.294-0.304) | 0.298 (0.281-0.315) | 0.285 (0.263-0.307) | 0.305 (0.298-0.312) | 0.278 (0.254-0.302) | 0.185 |
DRD3 | rs6280 | T(C) | 0.311 (0.306-0.316) | 0.342 (0.325-0.359) | 0.270 (0.248-0.292) | 0.316 (0.309-0.323) | 0.306 (0.281-0.331) | 0.0001 |
FABP2 | rs1799883 | G(A) | 0.261 (0.257-0.265) | 0.261 (0.245-0.277) | 0.258 (0.236-0.280) | 0.261 (0.254-0.268) | 0.271 (0.247-0.295) | 0.871 |
ADD1 | rs4961 | G(T) | 0.191 (0.187-0.195) | 0.188 (0.174-0.202) | 0.165 (0.147-0.183) | 0.192 (0.186-0.198) | 0.197 (0.175-0.219) | 0.158 |
ADRB2 | rs1042714 | C(G) | 0.433 (0.428-0.438) | 0.457 (0.439-0.475) | 0.403 (0.379-0.427) | 0.428 (0.420-0.436) | 0.419 (0.392-0.446) | 0.0018 |
FGFR4 | rs351855 | C(T) | 0.303 (0.298-0.308) | 0.286 (0.269-0.303) | 0.351 (0.327-0.375) | 0.299 (0.292-0.306) | 0.330 (0.304-0.356) | <0.0001 |
EDN1 | rs5370 | G(T) | 0.214 (0.210-0.218) | 0.218 (0.203-0.233) | 0.193 (0.173-0.213) | 0.210 (0.204-0.216) | 0.201 (0.179-0.223) | 0.524 |
HTR1B | rs6296 | G(C) | 0.268 (0.264-0.272) | 0.266 (0.250-0.282) | 0.281 (0.259-0.303) | 0.264 (0.257-0.271) | 0.290 (0.265-0.315) | 0.045 |
EGFR | rs2227983 | G(A) | 0.253 (0.249-0.257) | 0.265 (0.249-0.281) | 0.260 (0.238-0.282) | 0.250 (0.243-0.257) | 0.260 (0.236-0.284) | 0.209 |
CFTR | rs213950 | G(A) | 0.426 (0.421-0.431) | 0.423 (0.405-0.441) | 0.444 (0.419-0.469) | 0.427 (0.419-0.435) | 0.424 (0.397-0.451) | 0.085 |
PON2 | rs7493 | C(G) | 0.244 (0.240-0.248) | 0.252 (0.236-0.268) | 0.279 (0.257-0.301) | 0.239 (0.233-0.245) | 0.257 (0.233-0.281) | 0.004 |
LPL | rs328 | C(G) | 0.098 (0.095-0.101) | 0.099 (0.088-0.110) | 0.092 (0.078-0.106) | 0.099 (0.094-0.104) | 0.090 (0.074-0.106) | 0.682 |
9p21 | rs2383206 | A(G) | 0.499 (0.494-0.504) | 0.522 (0.504-0.540) | 0.496 (0.471-0.521) | 0.495 (0.487-0.503) | 0.477 (0.450-0.504) | 0.150 |
RET | rs1800861 | A(C) | 0.232 (0.228-0.236) | 0.213 (0.198-0.228) | 0.256 (0.234-0.278) | 0.240 (0.234-0.246) | 0.203 (0.181-0.225) | 0.001 |
ADRB1 | rs1801253 | C(G) | 0.271 (0.267-0.275) | 0.264 (0.248-0.280) | 0.269 (0.247-0.291) | 0.270 (0.263-0.277) | 0.275 (0.251-0.299) | 0.922 |
PLAU | rs2227564 | C(T) | 0.247 (0.243-0.251) | 0.239 (0.223-0.255) | 0.219 (0.198-0.240) | 0.244 (0.237-0.251) | 0.277 (0.253-0.301) | 0.012 |
MMP1 | rs1799750 | -(G) | 0.469 (0.464-0.474) | 0.486 (0.468-0.504) | 0.458 (0.433-0.483) | 0.460 (0.452-0.468) | 0.505 (0.478-0.532) | 0.020 |
VWF | rs1063856 | A(G) | 0.361 (0.356-0.366) | 0.381 (0.363-0.399) | 0.337 (0.314-0.360) | 0.353 (0.346-0.360) | 0.372 (0.346-0.398) | 0.006 |
HTR2A | rs6313 | C(T) | 0.406 (0.401-0.411) | 0.400 (0.382-0.418) | 0.370 (0.346-0.394) | 0.412 (0.405-0.419) | 0.397 (0.370-0.424) | 0.071 |
MTHFD1 | rs2236225 | C(T) | 0.447 (0.442-0.452) | 0.456 (0.438-0.474) | 0.442 (0.417-0.467) | 0.446 (0.438-0.454) | 0.439 (0.412-0.466) | 0.792 |
LIPC | rs1800588 | C(T) | 0.214 (0.210-0.218) | 0.225 (0.210-0.240) | 0.232 (0.211-0.253) | 0.213 (0.207-0.219) | 0.212 (0.190-0.234) | 0.077 |
MMP2 | rs243865 | C(T) | 0.247 (0.243-0.251) | 0.242 (0.226-0.258) | 0.257 (0.235-0.279) | 0.243 (0.236-0.250) | 0.248 (0.225-0.271) | 0.888 |
CYBA | rs4673 | C(T) | 0.341 (0.336-0.346) | 0.318 (0.301-0.335) | 0.365 (0.341-0.389) | 0.338 (0.331-0.345) | 0.325 (0.300-0.350) | 0.083 |
CETP | rs708272 | C(T) | 0.422 (0.417-0.427) | 0.436 (0.418-0.454) | 0.409 (0.385-0.433) | 0.420 (0.413-0.427) | 0.436 (0.409-0.463) | 0.027 |
ELAC2 | rs4792311 | G(A) | 0.304 (0.299-0.309) | 0.291 (0.274-0.308) | 0.304 (0.281-0.327) | 0.309 (0.302-0.316) | 0.292 (0.267-0.317) | 0.492 |
ENOSF1/TYMS | rs16430 | +(-) | 0.297 (0.292-0.302) | 0.301 (0.284-0.318) | 0.273 (0.251-0.295) | 0.300 (0.293-0.307) | 0.305 (0.280-0.330) | 0.314 |
FUT2 | rs601338 | G(A) | 0.456 (0.451-0.461) | 0.486 (0.468-0.504) | 0.394 (0.370-0.418) | 0.452 (0.444-0.460) | 0.502 (0.475-0.529) | <0.0001 |
LDLR | rs688 | C(T) | 0.423 (0.418-0.428) | 0.443 (0.425-0.461) | 0.406 (0.382-0.430) | 0.421 (0.414-0.428) | 0.420 (0.393-0.447) | 0.038 |
GNAS | rs7121 | C(T) | 0.477 (0.472-0.482) | 0.500 (0.482-0.518) | 0.468 (0.443-0.493) | 0.475 (0.467-0.483) | 0.473 (0.446-0.500) | 0.317 |
CBS | rs234706 | G(A) | 0.348 (0.343-0.353) | 0.342 (0.325-0.359) | 0.331 (0.308-0.354) | 0.347 (0.340-0.354) | 0.344 (0.318-0.370) | 0.266 |
IL1B | rs16944 | G(A) | 0.329 (0.324-0.334) | 0.343 (0.326-0.360) | 0.326 (0.303-0.349) | 0.332 (0.325-0.339) | 0.312 (0.287-0.337) | 0.170 |
NOS3 | rs1799983 | G(T) | 0.308 (0.303-0.313) | 0.318 (0.301-0.335) | 0.287 (0.265-0.309) | 0.309 (0.302-0.316) | 0.296 (0.271-0.321) | 0.420 |
TGFB1 | rs1800469 | C(T) | 0.306 (0.301-0.311) | 0.299 (0.282-0.316) | 0.320 (0.297-0.343) | 0.309 (0.302-0.316) | 0.296 (0.271-0.321) | 0.742 |
TNFa | rs1800629 | G(A) | 0.171 (0.167-0.175) | 0.189 (0.175-0.203) | 0.156 (0.138-0.174) | 0.169 (0.163-0.175) | 0.172 (0.152-0.192) | 0.009 |
IL6 | rs1800795 | G(C) | 0.440 (0.435-0.445) | 0.430 (0.412-0.448) | 0.453 (0.428-0.478) | 0.438 (0.430-0.446) | 0.455 (0.428-0.482) | 0.200 |
IL6 | rs1800796 | G(C) | 0.052 (0.050-0.054) | 0.055 (0.047-0.063) | 0.063 (0.051-0.075) | 0.051 (0.048-0.054) | 0.045 (0.034-0.056) | 0.108 |
IL10 | rs1800872 | C(A) | 0.240 (0.236-0.244) | 0.236 (0.220-0.252) | 0.242 (0.221-0.263) | 0.240 (0.234-0.246) | 0.244 (0.221-0.267) | 0.551 |
MTHFR | rs1801133 | C(T) | 0.327 (0.322-0.332) | 0.322 (0.305-0.339) | 0.307 (0.284-0.330) | 0.327 (0.320-0.334) | 0.325 (0.300-0.350) | 0.677 |
LPL | rs268 | A(G) | 0.020 (0.019-0.021) | 0.020 (0.015-0.025) | 0.017 (0.011-0.023) | 0.021 (0.019-0.023) | 0.032 (0.022-0.042) | 0.034 |
ACE | rs4291 | A(T) | 0.377 (0.372-0.382) | 0.377 (0.359-0.395) | 0.373 (0.349-0.397) | 0.379 (0.372-0.386) | 0.379 (0.353-0.405) | 0.879 |
ACE | rs4343 | G(A) | 0.479 (0.474-0.484) | 0.480 (0.462-0.498) | 0.506 (0.481-0.531) | 0.476 (0.468-0.484) | 0.488 (0.461-0.515) | 0.009 |
APOE | rs429358 | T(C) | 0.145 (0.141-0.149) | 0.151 (0.138-0.164) | 0.117 (0.101-0.133) | 0.138 (0.133-0.143) | 0.182 (0.161-0.203) | <0.0001 |
APOE | rs7412 | C(T) | 0.083 (0.080-0.086) | 0.077 (0.067-0.087) | 0.082 (0.068-0.096) | 0.089 (0.085-0.093) | 0.076 (0.062-0.090) | 0.299 |
COMT | rs4680 | A(G) | 0.466 (0.461-0.471) | 0.470 (0.452-0.488) | 0.484 (0.459-0.509) | 0.467 (0.459-0.475) | 0.421 (0.394-0.448) | 0.009 |
VDR | rs7975232 | A(C) | 0.483 (0.478-0.488) | 0.481 (0.463-0.499) | 0.491 (0.466-0.516) | 0.488 (0.480-0.496) | 0.468 (0.441-0.495) | 0.113 |
VDR | rs731236 | T(C) | 0.387 (0.382-0.392) | 0.380 (0.362-0.398) | 0.365 (0.341-0.389) | 0.382 (0.375-0.389) | 0.384 (0.358-0.410) | 0.284 |
VDR | rs1544410 | G(A) | 0.392 (0.387-0.397) | 0.387 (0.369-0.405) | 0.368 (0.344-0.392) | 0.387 (0.380-0.394) | 0.387 (0.361-0.413) | 0.479 |