ABCMdb

ABCB3 p.Ala565Thr

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Publications

PMID: 19480848 [PubMed] Feng M et al: "TAP1 and TAP2 polymorphisms associated with ankylosing spondylitis in genetically homogenous Chinese Han population."

No. Sentence Comment

101 Both TAP1 site 1910 SNP AϾG and TAP2 site 1693 GϾA result in amino acid changes (Asp637Gly and Ala565Thr, respectively). 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: 16923719 [PubMed] Yilmaz I et al: "No difference in polymorphism frequency in a Turkish population with allergic rhinitis."

No. Sentence Comment

2 To clarify the contribution of TAP polymorphisms to allergic rhinitis, we determined the frequency of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms in a Turkish population with allergic rhinitis. Login to comment
8 Restriction fragment size analysis was performed for TAP1 (I333V) or TAP2 (A565T and R651C) by visualization of Sau3A1-, Scal-, or Smal- digested PCR products, respectively, after separation by polyacrylamide gel electrophoresis on a 10% ethidium bromide-stained gel. Login to comment
21 Thus, the contribution of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms to disease progression remains controversial. Login to comment
3 To clarify the contribution of TAP polymorphisms to allergic rhinitis, we determined the frequency of TAP1 (I333V) and TAP2 (A565T and R651C) polymorphisms in a Turkish population with allergic rhinitis. Login to comment
9 Restriction fragment size analysis was performed for TAP1 (I333V) or TAP2 (A565T and R651C) by visualization of Sau3A1-, Scal-, or Smal- digested PCR products, respectively, after separation by polyacrylamide gel electrophoresis on a 10% ethidium bromide-stained gel. Login to comment

PMID: 11960305 [PubMed] Balladares S et al: "Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico."

No. Sentence Comment

18 For TAP2, three dimorphic sites have been described: ILE379VAL, ALA565THR and ALA665THR; the different combinations result in eight distinct alleles, described in Table 1.3,4 Four of them have not been Correspondence: Dr C Gorodezky, Head of The Department of Immunogenetics, InDRE, SSA, Carpio 470-1st floor. Login to comment

PMID: 10471632 [PubMed] Foley PJ et al: "Analysis of MHC encoded antigen-processing genes TAP1 and TAP2 polymorphisms in sarcoidosis."

No. Sentence Comment

67 Statistical Analysis Statistical analysis was performed on the individual polymorphism results for the two populations studied using chi-square contingency ta- TABLE 2 COMPARISON OF TAP1 AND TAP2 POLYMORPHISM IN UK PATIENTS WITH SARCOIDOSIS AND CONTROL SUBJECTS STUDIED TAP Polymorphism Frequencies UK Control Subjects (%) (n ϭ 290) UK Patients with Sarcoidosis (%) (n ϭ 117) ␹2 * p Value Odds Ratio (95% CI)† TAP1 P333 Phenotypes Ile-333 97.9 97.4 NS NS - Val-333 33.4 35.0 NS NS - Genotypes Ile-333/Ile-333 66.6 65.0 Ile-333/Val-333 31.4 32.5 NS NS - Val-333/Val-333 2.1 2.5 TAP1 position 637 Phenotypes Asp-637 99.3 100 NS NS - Gly-637 31.4 27.4 NS NS - Genotypes Asp-637/Asp-637 68.6 72.6 Asp-637/Gly-637 30.7 27.4 NS NS - Gly-637/Gly-637 0.7 0 TAP2 position 379 Phenotypes Val-379 99.7 99.1 NS NS - Ile-379 25.2 25.6 NS NS - Genotypes Val-379/Val-379 74.8 74.4 Val-379/Ile-379 24.8 24.8 NS NS - Ile-379/Ile-379 0.3 0.9 TAP2 position 565 Phenotypes Ala-565 99.7 100 NS NS - Thr-565 19.0 8.5 6.74 0.009 0.4 (0.18-0.85) Genotypes Ala-565/Ala-565 81.0 91.5 2.5 (1.18-5.45) Ala-565/Thr-565 18.6 8.5 6.86 0.03 0.41 (0.19-0.87) Thr-565/Thr-565 0.3 0 TAP2 position 665 Phenotypes Thr-665 95.5 97.4 NS NS - Ala-665 51.4 35.0 8.93 0.003 0.51 (0.32-0.81) Genotypes Thr-665/Thr-665 48.6 65.0 1.96 (1.23-3.13) Thr-665/Ala-665 46.9 32.5 9.01 0.01 0.54 (0.34-0.87) Ala-665/Ala-665 4.5 2.6 0.56 (0.12-2.16) * The chi-square test with 1 df was performed for the comparison of overall phenotype frequencies. Login to comment
91 When we examined the HLA-DPB1 allele and phenotype frequencies in the UK control and patient groups, no difference was seen in the frequency of participants carrying HLA- TABLE 3 COMPARISON OF TAP1 AND TAP2 POLYMORPHISM IN THE POLISH PATIENTS WITH SARCOIDOSIS AND THE CONTROL SUBJECTS STUDIED TAP Polymorphism Frequencies Polish Control Subjects (%) (n ϭ 158) Polish Patients with Sarcoidosis (%) (n ϭ 87) ␹2 p Value TAP1 position 333 Phenotypes Ile-333 98.7 96.6 NS NS Val-333 31.0 29.5 NS NS Genotypes Ile-333/Ile-333 69.0 70.1 Ile-333/Val-333 29.7 26.4 NS NS Val-333/Val-333 1.3 3.4 TAP1 position 637 Phenotypes Asp-637 98.7 95.4 NS NS Gly-637 22.5 32.2 NS NS Genotypes Asp-637/Asp-637 77.5 67.8 Asp-637/Gly-637 21.2 27.6 NS NS Gly-637/Gly-637 1.3 5 TAP2 position 379 Phenotypes Val-379* 97.5 93.1 5.63 0.02 Ile-379 25.0 31.0 NS NS Genotypes Val-379/Val-379 75.0 69.0 Val-379/Ile-379 22.5 24.1 NS NS Ile-379/Ile-379 2.5 6.9 TAP2 position 565 Phenotypes Ala-565 100 100 NS NS Thr-565 23.1 20.5 NS NS Genotypes Ala-565/Ala-565 76.9 79.3 Ala-565/Thr-565 23.1 20.7 NS NS Thr-565/Thr-565 0.0 0 TAP2 position 665 Phenotypes Thr-665 96.2 97.7 NS NS Ala-665 46.9 38.6 NS NS Genotypes Thr-665/Thr-665 53.1 62.1 Thr-665/Ala-665 43.1 35.6 NS NS Ala-665/Ala-665 3.8 2.3 * Odds ratio ϭ 0.17; 95% CI ϭ 0.02-1.0. Login to comment

PMID: 8770637 [PubMed] Westman P et al: "TAP1 and TAP2 polymorphism in HLA-B27-positive subpopulations: no allelic differences in ankylosing spondylitis and reactive arthritis."

No. Sentence Comment

49 In addition, because individuals typed as TAP2 Val-3791 Be-379, Ala-565/Thr-565, Thr-665 could be either 2AD or 2CE heterozygotes, the exact frequencies of these alleles cannot be counted. Login to comment

PMID: 7794046 [PubMed] Gonzalez-Escribano MF et al: "TAP polymorphism in patients with Behcet's disease."

No. Sentence Comment

22 Alleles were defined by haplotype association of these dimorphic variants: TAPlA = Ile-333/Asp-637, TAPlB = Val-333/Gly-637, and TAP1C = Val-333/Asp-637; TAP2A = Val-379/Ala-565F/hr-665, TAP2B = Val-379/Ala-565/Ala-665, and TAP2C = Ile- 379/Ala-565/Thr-665. Login to comment

PMID: 8428770 [PubMed] Powis SH et al: "Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2."

No. Sentence Comment

53 We now report a further polymorphism within the ATP-binding cassette of TAP2, A for G at nucleotide position 1693, resulting in the substition of Thr for Ala at amino acid position 565. Login to comment

PMID: 8344720 [PubMed] Powis SH et al: "TAP1 and TAP2 polymorphism in coeliac disease."

No. Sentence Comment

37 TAP polymorphism Controls CD (n = 69) (n = 81) n % n % TAP2 position 379: Phenotype frequencies Val-379/Val-379 43 62.3 Val-379/Ile-379 25 36.2 Ile-379/Ile-379 1 1.4 Val-379 68 98.6 Ile-379 26 37.7 Gene frequencies Val-379 111 80.4 Ile-379 27 19.6 TAP2 position 565: Phenotype frequencies Ala-565/Ala-565 49 71 Ala-565/Thr-565 20 29 Thr-565/Thr-565 0 0 Ala-565 69 100 Thr-565 20 29 Gene frequencies Ala-565 118 85.5 Thr-565 20 14.5 TAP2 position 665: Phenotype frequencies Thr-665/Thr-665 39 56.5 Thr-665/Ala-665 27 39.1 Ala-665/Ala-665 3 4.3 Thr-665 66 95.7 Ala-665 30 43.5 Gene frequencies Thr-665 105 76.1 Ala-665 33 23.9 TAP1 position 333: Phenotype frequencies Ile-333/Ile-333 51 73.9 Ile-333/Val-333 16 23.2 Val-333/Val-333 2 2.9 Iie-333 67 97.1 Val-333 18 26.1 Gene frequencies Ile-333 118 85.5 Val-333 20 14.5 TAP1 position 637: Phenotype frequencies Asp-637/Asp-637 54 78.3 Asp-637/Gly-637 13 18.8 Gly-637/Gly-637 2 2.9 Asp-637 67 97.1 Gly-637 15 21.7 Gene frequencies Asp-637 121 87.7 Gly-637 17 12.3 74 91.4 * 7 8.6 * 0 0 81 100 7 8.6 * 155 95.7 * 7 4.3 * 75 92.6 * 6 7.4 * 0 0 81 100 6 7.4 * 156 96.3 * 6 3.7 * 69 85.2 * 10 12.3 * 2 2.5 79 97.5 12 14.8 * 148 91.4 * 14 8.6 * 68 84 12 14.8 1 1.2 80 98.8 13 16 148 91.4 14 8.6 71 87.7 9 11.1 1 1.2 80 98.8 10 12.3 151 93.2 11 6.8 Chi-square or Fisher's exact test: *p <0.001. Login to comment
46 The remaining 13 individuals were typed as TAP2Val-379fIle-379, Ala-565/Thr-565, Thr-665/Thr-665 compound heterozygotes and could therefore be either TAP2A/TAP2Dor TAP2C/TAP2Eheterozygotes. Login to comment

PMID: 12826376 [PubMed] Lajoie J et al: "New transporter associated with antigen processing (TAP-2) polymorphisms in the Shona people of Zimbabwe."

No. Sentence Comment

101 It is interesting to note that 565Thr and 651Cys variants in Rwandans do not follow TABLE 4 Allelic frequencies of TAP 2 single nucleotide polymorphisms in different populations Population Number of alleles T257I R313H A374T V379I A565T A609V R651C T665A Zimbabwean 384 3.4% 4.7% 9.1% 19.3% 13.5% 3.9% 0% 20.3% Caucasiansa 152 - - 0% 18.4% 0.7% - 5.3% 15.1% Braziliansa 296 - - 2.0% 13.2% 10.1% - 4.0% 32.4% Rwandansa 570 - - 6.7% 11.8% 0% - 10.0% 30.2% Zambiansa 234 - - 6.8% 10.2% 18.3% - 0% 23.5% a From [41]. Login to comment

PMID: 23395648 [PubMed] Shinde V et al: "Genetic evidence of TAP1 gene variant as a susceptibility factor in Indian leprosy patients."

No. Sentence Comment

2 The TAP1 and TAP2 genes were genotyped for four single nucleotide polymorphisms TAP1 (rs1057141 Iso333Val and rs1135216 Asp637Gly) and TAP2 (rs2228396 Ala565Thr and rs241447 Ala665Thr) by direct sequencing and ARMS-PCR. Login to comment
36 Since the causative organism of both leprosy and tuberculosis represent the same genus Mycobacterium, we aim to investigate the association of TAP1 (rs1057141 Iso333Val and rs1135216 Asp637Gly) and TAP2 (rs2228396 Ala565Thr and rs241447 Ala665Thr) gene polymorphisms to the infection outcome in Indian leprosy cohort with clinically classified patient groups. Login to comment

PMID: 23892057 [PubMed] Gojanovich GS et al: "Characterization and allelic variation of the transporters associated with antigen processing (TAP) genes in the domestic dog (Canis lupus familiaris)."

No. Sentence Comment

198 However, there was no overlap between canine (G127R, R373C, I425T and R695H) and human (V379I, A565T, R651C and Q665A) polymorphisms (http://hla.alleles.org/data/txt/tap2_prot.txt). Login to comment
197 However, there was no overlap between canine (G127R, R373C, I425T and R695H) and human (V379I, A565T, R651C and Q665A) polymorphisms (http://hla.alleles.org/data/txt/tap2_prot.txt). Login to comment

PMID: 24972609 [PubMed] Dai D et al: "Significant association between TAP2 polymorphisms and rheumatoid arthritis: a meta-analysis."

No. Sentence Comment

20 Among them, Ile379Val, Ala565Thr and Thr665Ala are * Correspondence: duanshiwei@nbu.edu.cn ߤ Equal contributors 1 Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China Full list of author information is available at the end of the article (c) 2014 Dai et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. Login to comment