ABCMdb

ABCB2 p.Asp697Gly

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Publications

PMID: 21796142 [PubMed] Kim JH et al: "Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline."

No. Sentence Comment

12 Value significant at Po0.05 is shown in bold. Table 2 Polymorphisms of TAP1 and TAP2 investigated in this study Gene SNP ID Polymorphism Position Amino-acid change Genotype (n) MAF HWE* TAP1 rs2071481 A/G Intron AA (109) AG (60) GG (10) 0.223 0.648 rs2284190 T/C Intron TT (132) TC (50) CC (3) 0.151 0.479 rs4148880 A/G Exon Ile393Val AA (124) AG (55) GG (8) 0.190 0.549 rs2395269 T/G Intron TT (125) TG (52) GG (8) 0.184 0.391 rs12529313 A/G Intron AA (124) AG (55) GG (8) 0.190 0.549 rs2071482 G/T Intron GG (125) GT (53) TT (7) 0.181 0.643 rs735883 C/T Intron CC (78) CT (85) TT (22) 0.349 0.875 rs1800453 A/G Exon Asp697Gly AA (130) AG (48) GG (7) 0.168 0.341 rs4711312 A/G Intron AA (130) AG (48) GG (7) 0.168 0.341 rs1057373 G/T 3'UTR GG (132) GT (46) TT (7) 0.162 0.248 rs2071540 G/A 3'near GG (61) GA (94) AA (30) 0.416 0.535 rs2071541 T/C 3'near TT (127) TC (50) CC (8) 0.178 0.289 TAP2 rs3763366 C/G 5'near CC (51) CG (94) GG (44) 0.481 0.957 rs4148870 G/A Intron GG (55) GA (89) AA (43) 0.468 0.546 rs2071544 G/A Intron GG (50) GA (95) AA (44) 0.484 0.931 rs2071465 G/C Intron GG (89) GC (78) CC (19) 0.312 0.755 rs2239701 A/G Intron AA (44) GA (101) GG (42) 0.495 0.272 rs241424 C/T Intron CC (49) CT (94) TT (44) 0.487 0.934 rs3819721 G/A Intron GG (101) GA (72) AA (14) 0.267 0.814 rs241426 T/A Intron TT (74) TA (91) AA (22) 0.361 0.453 rs3819714 G/A Intron GG (63) GA (98) AA (26) 0.401 0.214 rs241429 C/T Intron CC (74) CT (86) TT (27) 0.374 0.804 rs4148871 C/T Intron CC (122) CT (62) TT (3) 0.182 0.118 rs241430 G/A Intron GG (68) GA (95) AA (25) 0.386 0.362 rs241432 A/C Intron AA (66) AC (95) CC (28) 0.399 0.512 rs4148873 G/A Exon Val379Ile GG (141) GA (43) AA (3) 0.131 0.893 rs2228397 G/T Exon Synonymous (Gly386Gly) GG (90) GT (78) TT (19) 0.310 0.730 rs241433 T/G Intron TT (63) TG (96) GG (28) 0.406 0.381 rs1015166 C/T Intron CC (99) CT (75) TT (13) 0.270 0.813 rs4576294 G/A Exon Synonymous (Asn436Asn) GG (177) GA (10) AA (0) 0.027 0.707 rs241436 C/T Intron CC (57) CT (82) TT (48) 0.476 0.098 rs241437 C/T Intron CC (52) CT (92) TT (43) 0.476 0.851 rs241438 G/A Intron GG (49) GA (91) AA (48) 0.497 0.662 rs241439 C/A Intron CC (52) CA (91) AA (44) 0.479 0.733 rs4148876 C/T Exon/intron Arg651Cys CC (132) CT (52) TT (3) 0.155 0.403 rs241454 T/C 3'UTR/intron TT (71) TC (92) CC (24) 0.374 0.492 rs10484565 G/A 3'UTR/intron GG (146) GA (38) AA (3) 0.118 0.772 rs2857101 A/G 3'UTR/intron AA (71) AG (94) GG (24) 0.376 0.407 rs13501 G/A 3'UTR/intron GG (56) GA (96) AA (35) 0.444 0.586 rs1894411 A/G 3'near/intron AA (141) AG (42) GG (5) 0.138 0.390 rs2856993 C/G 3'near/intron CC (89) CG (83) GG (15) 0.302 0.473 rs2857103 G/T 3'near/intron GG (56) GT (96) TT (35) 0.444 0.586 rs2621321 T/C 3'near TT (81) TC (88) CC (18) 0.332 0.399 Abbreviations: HWE, Hardy-Weinberg equilibrium; MAF, minor allele frequency; SNP, single-nucleotide polymorphism; UTR, untranslated region. Login to comment
54 Four non-synonymous SNPs in coding regions (Ile393Val and Asp697Gly in TAP1; Val379Ile and Arg651Cys in TAP2) were included. Login to comment

PMID: 18650831 [PubMed] Ivansson EL et al: "MHC loci affecting cervical cancer risk: distinguishing the effects of HLA-DQB1 and non-HLA genes TNF, LTA, TAP1 and TAP2."

No. Sentence Comment

138 Genomic location on chr6 Minor allele frequency in controls Genotyping method LTA IntronA A/G rs909253 31648292 0.376 Inflastripa TNF À857 C/T rs1799724 31650461 0.067 TaqMan TNF À572 A/C rs4248161 31650746 0.014 TaqMan TNF À308 G/A rs1800629 31651010 0.167 Inflastripa TNF À238 G/A rs361525 31651080 0.047 Inflastripa TAP2 T665A T/C rs241447 32904729 0.244 TaqMan TAP2 R651C G/A rs4148876 32904771 0.070 TaqMan TAP2 A565T C/T rs2228396 32905787 0.112 TaqMan TAP2 V379I C/T rs1800454 32908390 0.164 TaqMan TAP1 D697G T/C rs1135216 32922953 0.167 TaqMan TAP1 I393V T/C rs1057141 32926752 0.190 TaqMan Abbreviations: HLA, human leukocyte antigen; LTA, lymphotoxin-alpha; TAP, transporter associated with antigen processing; TNF, tumor necrosis factor. Login to comment

PMID: 23799208 [PubMed] Oetting WS et al: "Transplant rejection and risk: in search of the genetic dark matter."

No. Sentence Comment

17 They report that recipients who received a liver allograft having one or two copies of the glycine allele of the p.Asp697Gly polymorphism (rs1135261) were almost three times more likely to experience an AR event than receiving an allograft homozygous for the aspartic acid allele. Login to comment

PMID: 23799215 [PubMed] Kamei H et al: "Association of transporter associated with antigen processing (TAP) gene polymorphisms in donors with acute cellular rejection in living donor liver transplantation."

No. Sentence Comment

4 Methods: We examined 155 LDLTs treated at Nagoya University or Kyoto University from 2004 to 2009 and analyzed the gene polymorphisms of TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys, and TAP-2 p.Gln687Stop. Login to comment
28 Genotyping Genomic DNA was extracted from peripheral blood samplesobtainedfromthedonors.IsolatedDNAwasusedfor genotyping of transporter associated with antigen processing 1 (TAP-1) p.Ile333Val (rs#1057141), TAP-1 p.Asp697Gly (rs#1135216), TAP-2 p.Arg651Cys (rs#4148876), and TAP-2 p.Gln687Stop (rs#241448). Login to comment
29 Genotype for TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys, and TAP-2 p.Gln687Stop was performed using a PCR-restriction fragment length polymorphism (RFLP) method. Login to comment
45 On the other hand, the Gly allele of TAP-1 p.Asp697Gly in the donors was found to have a suggestive association with ACR incidence (p=0.025, p<0.0125 considered significant) and the logistic regression analysis (adjusted for age, gender, and initial CNI) showed recipients who Table I. Login to comment
48 DISCUSSION We analyzed the associations of the gene polymorphisms TAP-1 p.Ile333Val, TAP-1 p.Asp697Gly, TAP-2 p.Arg651Cys and TAP-2 p.Gln687Stop in donors with early ACR in cases of LDLT. Login to comment
68 The p.Asp697Gly polymorphism is also known as Asp637Gly as stated in previous publications [3, 5, 6, 9-11, 15]. Login to comment
70 Relationship between gene polymorphisms of donor and acute cellular rejection (ACR) Gene Polymorphisms rs# n n Rejection % p* TAP1 p.Ile333Val 1057141 0.523 Ile/Ile 124 35 28.2 Ile/Val 26 10 38.5 Val/Val 5 2 40.0 TAP1 p.Asp697Gly 1135216 0.025 Asp/Asp 124 31 25.0 Asp/Gly 27 14 51.6 Gly/Gly 4 2 50.0 TAP2 p.Arg651Cys 4148876 0.91 Arg/Arg 119 37 31.1 Arg/Cys 33 9 27.3 Cys/Cys 3 1 33.3 TAP2 p.Gln687Stop 241448 0.19 Gln/Gln 20 7 35.0 Gln/Stop 63 14 22.2 Stop/Stop 72 26 36.1 * P-value from a chi-square test with 2 degrees of freedom Table III. Login to comment

PMID: 25008864 [PubMed] Aissani B et al: "SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma."

No. Sentence Comment

5 A striking multiplicative effect on the estimated risk was associated with further carriage of two non-synonymous variants, rs1800453 A4G (Asp697Gly) and rs4148880 A4G (Ile393Val), in the linked TAP1 gene (OR &#bc; 10.5; 95% CI &#bc; 2.54-43.6; P &#bc; 0.0012). Login to comment
38 Within 95 kb from HLA-DMB toward HLA-DR, significant but moderate associations with risk were observed with two non-synonymous SNPs in TAP1, rs1800453 A4G (Asp697Gly) (OR &#bc; 1.54; 95% &#bc; 1.09-2.18; P &#bc; 0.014) and rs4148880 A4G (Ile393Val) (OR &#bc; 1.45; 95% CI &#bc; 1.05-1.99; P &#bc; 0.024), and with rs2071541 A4G, a SNP located in the overlapping microRNA TAPSAR1 (OR &#bc; 1.60; 95% CI &#bc; 1.11-2.32; P &#bc; 0.012). Login to comment
61 A significant increase of risk (adjusted OR &#bc; 10.5) was associated with further carriage of non-synonymous rs1800453 (A4G) and rs4148880 (A4G) alleles encoding Asp697Gly and Ile393Val mutations in TAP1, respectively. Login to comment
64 Association of gene variants in central MHC with HIV-related Kaposi`s sarcoma in HIV-positive men enrolled in the Multicenter AIDS Cohort Study Obs Polymorphism Position Gene/closest gene Function MAF, count (%) ORa (95% CI) P-value Cases Controls 66 rs356971 (A4C) 30087776 ZNRD1-AS1 ncRNA 88 (0.14) 118 (0.19) 0.73 (0.53-0.99) 0.0422 72 rs1116221 (G4A) 30179309 TRIM31 Glu421Lys 141 (0.23) 177 (0.28) 0.74 (0.56-0.96) 0.0328 88 rs9357097 (G4A) 30393100 HCG18 Intron 185 (0.30) 157 (0.25) 1.32 (1.02-1.72) 0.0394 100 rs2429657 (A4G) 30579499 HLA-E Intergenic 119 (0.19) 152 (0.24) 0.68 (0.51-0.90) 0.0081 105 rs1076829 (A4G) 30735195 DHX16 Intron 194 (0.31) 230 (0.37) 0.76 (0.60-0.96) 0.0229 169 rs2071594 (G4C) 31620699 NFKBIL1 3`UTR 188 (0.30) 220 (0.35) 0.74 (0.58-0.96) 0.0220 170 rs2071592 (T4A) 31623319 NFKBIL1 Intron 174 (0.28) 212 (0.34) 0.70 (0.54-0.90) 0.0063 172 rs6929796 (G4A) 31630648 NFKBIL1 Intron 89 (0.14) 119 (0.19) 0.74 (0.55-0.99) 0.0444 174 rs2239707 (A4G) 31633298 NFKBIL1 Intron 217 (0.35) 189 (0.30) 1.26 (0.98-1.60) 0.0683 185 rs1800683 (G4A) 31648050 LTA 5`UTR 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 187 rs909253 (A4G) 31648292 LTA 5` Region 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 189 rs1041981 (C4A) 31648763 LTA Thr60Asn 188 (0.30) 220 (0.35) 0.75 (0.58-0.96) 0.0223 200 rs3093665 (A4C) 31653370 TNF 3`UTR 19 (0.03) 7 (0.01) 2.00 (0.89-4.53) 0.0965 214 rs2844477 (A4G) 31686751 AIF-1, NCR3 Intergenic 220 (0.35) 263 (0.42) 0.75 (0.59-0.96) 0.0207 221 rs7029 (A4G) 31737932 GPANK1 3`UTR 167 (0.27) 137 (0.22) 1.55 (1.17-2.05) 0.0022 224 rs1065356 (G4A) 31794987 LY6G6C cds-syn 137 (0.22) 109 (0.17) 1.60 (1.18-2.16) 0.0024 225 rs3749953 (A4G) 31821103 MSH5-SAPCD1 Intronic 92 (0.13) 76 (0.11) 1.45 (1.01-2.10) 0.0459 227 rs707926 (G4A) 31856799 VARS cds-syn 107 (0.17) 84 (0.13) 1.42 (1.03-1.97) 0.0323 264 rs3749962 (G4A) 32144335 TNXB cds-syn 41 (0.07) 60 (0.10) 0.57 (0.38-0.87) 0.0084 349 rs2071541 (A4G) 32920836 TAP1, TAPSAR1 nearGene-3 100 (0.16) 75 (0.12) 1.60 (1.11-2.32) 0.0124 350 rs1800453 (A4G) 32922953 TAP1 Asp697Gly 116 (0.19) 91 (0.14) 1.54 (1.09-2.18) 0.0136 352 rs4148880 (A4G) 32926752 TAP1 Ile393Val 143 (0,21) 117 (0.17) 1.45 (1.05-1.99) 0.0236 353 rs4713600 (C4A) 32930836 TAP1 nearGene-5 331 (0.48) 293 (0.42) 1.31 (1.04-1.66) 0.0236 355 rs9276820 (G4A) 32937254 PSMB9 Downstream 305 (0.49) 279 (0.44) 1.33 (1.06-1.67) 0.0140 356 rs1383266 (G4A) 32942710 PSMB9, HLA-DMB Intergenic 135 (0.22) 169 (0.27) 0.75 (0.58-0.97) 0.0309 359 rs2187688 (G4A) 32979979 PSMB9, HLA-DMB Intergenic 274 (0.44) 307 (0.49) 0.75 (0.59-0.96) 0.0199 367 rs151719 (A4G) 33011878 HLA-DMB Intron 161 (0.26) 121 (0.19) 1.39 (1.03-1.86) 0.0291 370 rs194675 (T4A) 33013724 HLA-DMB Intron 272 (0.44) 309 (0.49) 0.77 (0.61-0.99) 0.0383 372 rs6902982 (A4G) 33015859 HLA-DMB Intron 32 (0.05) 10 (0.02) 4.09 (1.90-8.80) 0.0003 377 rs209475 (G4A) 33033563 HLA-DMA Upstream 215 (0.35) 254 (0.41) 0.78 (0.60-1.04) 0.0533 379 rs683208 (A4G) 33045879 BRD2 nearGene-5 219 (0.35) 257 (0.41) 0.78 (0.60-1.00) 0.0539 388 rs12174395(A4G) 33122296 HLA-DPA1 Upstream 191 (0.31) 230 (0.37) 0.75 (0.59-0.97) 0.0270 389 rs375912 (A4G) 33124706 HLA-DPA1 Upstream 198 (0.32) 236 (0.38) 0.76 (0.60-0.98) 0.0319 408 rs461338 (A4G) 33326158 VPS52 3`UTR 88 (0.14) 115 (0.18) 0.66 (0.47-0.92) 0.0152 411 rs466384 (A4G) 33362643 WDR46 Val287Ala 84 (0.13) 110 (0.17) 0.64 (0.45-0.91) 0.0132 415 rs1061801 (G4A) 33390316 ZBTB22 UTR-3 123 (0.18) 150 (0.22) 0.72 (0.53-0.97) 0.0288 Abbreviations: CI, confidence interval; MAF, minor allele frequency; MHC, major histocompatibility complex; OR, odds ratio; UTR, untranslated region. Login to comment