ABCB1 p.Ala154Thr
| Predicted by SNAP2: | C: N (93%), D: N (61%), E: N (66%), F: D (71%), G: N (82%), H: N (57%), I: D (66%), K: N (87%), L: N (66%), M: D (59%), N: N (87%), P: D (75%), Q: N (87%), R: N (87%), S: N (97%), T: N (93%), V: D (63%), W: D (75%), Y: D (71%), |
| Predicted by PROVEAN: | C: N, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: N, V: D, W: D, Y: D, |
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[hide] Pharmacogenomic Diversity among Brazilians: Influe... Front Pharmacol. 2012 Nov 6;3:191. doi: 10.3389/fphar.2012.00191. eCollection 2012. 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., [PMID:23133420]
Abstract [show]
BY VIRTUE OF BEING THE PRODUCT OF THE GENETIC ADMIXTURE OF THREE ANCESTRAL ROOTS: Europeans, Africans, and Amerindians, the present-day Brazilian population displays very high levels of genomic diversity, which have important pharmacogenetic/-genomic (PGx) implications. Recognition of this fact has prompted the creation of the Brazilian Pharmacogenomics Network (Refargen), a nationwide consortium of research groups, with the mission to provide leadership in PGx research and education in Brazil, with a population heath impact. Here, we present original data and review published results from a Refargen comprehensive study of the distribution of PGx polymorphisms in a representative cohort of the Brazilian people, comprising 1,034 healthy, unrelated adults, self-identified as white, brown, or black, according to the Color categories adopted by the Brazilian Census. Multinomial log-linear regression analysis was applied to infer the statistical association between allele, genotype, and haplotype distributions among Brazilians (response variables) and self-reported Color, geographical region, and biogeographical ancestry (explanatory variables), whereas Wright's F(ST) statistics was used to assess the extent of PGx divergence among different strata of the Brazilian population. Major PGx implications of these findings are: first, extrapolation of data from relatively well-defined ethnic groups is clearly not applicable to the majority of Brazilians; second, the frequency distribution of polymorphisms in several pharmacogenes of clinical relevance (e.g., ABCB1, CYP3A5, CYP2C9, VKORC) varies continuously among Brazilians and is not captured by race/Color self-identification; third, the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of PGx studies in order to avoid spurious conclusions based on improper matching of study cohorts.
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No. Sentence Comment
42 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.
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ABCB1 p.Ala154Thr 23133420:42:3083
status: NEW