ABCMdb

PMID: 10471632

Foley PJ, Lympany PA, Puscinska E, Zielinski J, Welsh KI, du Bois RM
Analysis of MHC encoded antigen-processing genes TAP1 and TAP2 polymorphisms in sarcoidosis.
Am J Respir Crit Care Med. 1999 Sep;160(3):1009-14., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCB3 p.Val379Ile ABCB3 p.Thr665Ala ABCB3 p.Ala565Thr 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 ABCB3 p.Val379Ile ABCB3 p.Thr665Ala ABCB3 p.Ala565Thr 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