ABCMdb

PMID: 23133420

Suarez-Kurtz G, Pena SD, Struchiner CJ, Hutz MH
Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
Front Pharmacol. 2012 Nov 6;3:191. doi: 10.3389/fphar.2012.00191. eCollection 2012., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCB1 p.Ala80Pro ABCB1 p.Ala154Thr Gene Polymorphism Id # Effect Minor allele frequency Chi square F ST Overall White Brown Black P value White vs. Black White vs. Brown Brown vs. Black ABCB1 1267C >T rs1128503 G412G 0.380 0.412 0.362 0.312 0.18 0.011 0.003 0.003 2677G >T/A rs2032582 S193A/T 0.370 0.417 0.343 0.221 0.0006 0.044 0.006 0.019 3435C >T rs1045642 I1145I 0.427 0.458 0.411 0.317 0.037 0.021 0.002 0.009 COMT 472G >A rs4680 V158M 0.408 0.437 0.374 0.411 0.52 0.001 0.004 0.001 CYP2B6 64C >T rs8192709 R22C 0.081 0.067 0.099 0.078 0.60 0.001 0.003 0.001 785A > G rs2279343 K262R 0.303 0.295 0.300 0.374 0.22 0.007 0.000 0.006 1459C >T rs3211371 R487C 0.172 0.213 0.135 0.127 0.068 0.013 0.011 0.000 516G >T rs3745274 Q172H 0.369 0.393 0.325 0.458 0.055 0.004 0.005 0.019 CYP2C8 805A >T rs11572103 I269F 0.047 0.026 0.060 0.106 0.012 0.026 0.007 0.007 416G >A rs11572080 R139K 0.098 0.125 0.075 0.058 0.08 0.014 0.007 0.001 792C > G rs1058930 I264M 0.038 0.040 0.039 0.020 0.54 0.004 0.000 0.003 CYP2C9 430C >T rs1799853 R144C 0.108 0.137 0.082 0.066 0.08 0.004 0.001 0.007 1075A > C rs1057910 I359L 0.052 0.049 0.059 0.026 0.26 0.014 0.008 0.001 1080C > G rs28371686 D360E 0.005 0.004 0.005 0.009 1.0 0.001 0.000 0.000 1003C >T rs28371685 R335W 0.008 0.010 0.005 0.009 0.78 0.000 0.001 0.000 CYP2C19 681G >A rs4244285 Splicing defect 0.115 0.106 0.120 0.144 0.58 0.003 0.001 0.001 636G >A rs4986893 W212X 0.000 0.000 0.000 0.003 1.0 0.000 0.000 0.000 -806C >T rs12248560 Increased transcription 0.169 0.168 0.167 0.175 0.98 0.000 0.000 0.000 CYP2D6 -1584C > G rs1080985 Promoter region 0.218 0.235 0.207 0.178 0.64 0.003 0.003 0.000 31G >A rs769258 V11M 0.035 0.043 0.027 0.023 0.60 0.002 0.002 0.000 100C >T rs1065852 P34S 0.136 0.150 0.124 0.115 0.79 0.003 0.002 0.000 1023C >T rs28371706 T107I 0.044 0.021 0.057 0.111 0.08 0.025 0.011 0.003 1661G > C rs1058164 V136V 0.456 0.461 0.445 0.482 0.89 0.000 0.000 0.001 1846G >A rs3892097 Splicing defect 0.117 0.134 0.105 0.080 0.61 0.003 0.004 0.000 2549A > del rs35742686 Frame shift 0.009 0.011 0.007 0.006 0.60 0.000 0.000 0.000 2615-2617delAAG rs5030656 K281del 0.013 0.014 0.011 0.013 1.0 0.001 0.002 0.001 2850C >T rs16947 R296C 0.390 0.352 0.417 0.480 0.23 0.016 0.003 0.005 3183G >A rs59421388 V287M 0.026 0.011 0.038 0.056 0.25 0.021 0.011 0.002 4180G > C rs1135840 S486T 0.531 0.513 0.541 0.582 0.74 0.004 0.000 0.002 CYP3A5 6986A > G rs776746 Frame shift 0.698 0.785 0.627 0.541 <0.0001 0.067 0.030 0.007 14690G >A rs10264272 Splicing defect 0.027 0.004 0.039 0.105 0.0001 0.049 0.014 0.017 23132insT rs413003343 Frame shift 0.024 0.013 0.027 0.079 0.003 0.025 0.003 0.013 SLCO1B1 388A > G rs2306283 N130D 0.553 0.498 0.601 0.635 0.036 0.019 0.011 0.001 463C >A rs11045819 P155T 0.118 0.118 0.122 0.097 0.77 0.001 0.000 0.002 521T > C rs4149056 V174A 0.135 0.135 0.143 0.089 0.24 0.005 0.000 0.007 SLCO1B3 334T > G rs4149117 S112A 0.741 0.799 0.702 0.592 0.0003 0.051 0.013 0.013 699G >A rs7311358 M233I 0.741 0.799 0.702 0.592 0.0003 0.051 0.013 0.013 TMPT 238G > C rs1800462 A80P 0.008 0.001 0.014 0.014 0.36 0.006 0.006 0.000 460G >A rs1800460 A154T 0.010 0.009 0.011 0.010 0.82 0.000 0.000 0.000 719A > G rs1142345 Y240C 0.026 0.017 0.037 0.017 0.46 0.000 0.004 0.004 VKORC1 3673G >A rs9923231 Reduced transcription 0.333 0.371 0.306 0.238 0.038 0.021 0.005 0.006 5808C >T rs2884737 Intronic 0.193 0.255 0.135 0.128 0.003 0.026 0.023 0.000 6853G > C rs8050894 Intronic 0.392 0.404 0.386 0.357 0.65 0.002 0.000 0.001 9104G >A rs7294 3-UTP 0.375 0.376 0.372 0.379 0.65 0.000 0.000 0.000 Bold numbers in the column "chi square" indicate statistically significant P values; bold numbers in the "White vs. Black" column indicate moderate pharmacogenetic divergence. Login to comment