ABCMdb

PMID: 11781255

Harty LC, Lin AY, Goldstein AM, Jaffe ES, Carrington M, Tucker MA, Modi WS
HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease.
Blood. 2002 Jan 15;99(2):690-3., [PubMed]

Sentences

No. Mutations Sentence Comment

33 ABCB2 p.Ile379Val It was necessary to exclude one family from analysis for one locus (TAP2 Ile379Val) because one parent was unavailable, the other parent and the offspring were heterozygous, and the transmitted allele could not be determined. Login to comment 35 ABCB2 p.Ile379Val It was necessary to exclude one family from analysis for one locus (TAP2 Ile379Val) because one parent was unavailable, the other parent and the offspring were heterozygous, and the transmitted allele could not be determined. Login to comment 64 ABCB2 p.Ile379Val Transmission-disequilibrium test results for linkage between familial Hodgkin disease and noncandidate alleles at HLA class II and transporter associated with antigen processing loci, National Cancer Institute, Bethesda, MD, 1978-1993 All familial HD (n afd; 28) Familial NSHD only (n afd; 23) Unaffected siblings (n afd; 40)&#b6; T NT ই2 Pߤ T NT ই2 Pߤ T NT ই2 Pߤ DRB1 *0301 1 6 3.57 .24 - - - - 7 9 0.25 - *0401 5 4 0.11 - 3 4 0.14 b0e; .99 11 5 2.25 .53 *1300 3 6 1.00 - 3 4 0.14 b0e; .99 5 3 0.50 - All othersߥ 36 29 - - 32 30 - - 13 14 - - Total 45 45 4.07 .25 38 38 0.23 .97 64 64 2.27 .52 DQA1 *0101 5 7 0.33 - 1 7 4.50 - 7 8 0.07 - *0102 19 9 3.57 .29 19 5 8.17 .02 18 20 0.11 - *0301 5 5 0.00 - 3 5 0.50 - 8 6 0.29 b0e; .99 *0501 11 12 0.04 - 10 9 0.05 - 14 13 0.04 - All othersߥ 3 10 - - 3 10 - - 9 9 - - Total 43 43 6.17 .19 36 36 13.59 .01 56 56 0.41 .98 DQB1 *201 3 11 4.57 .13 3 8 2.27 .53 9 13 0.73 - *0301 10 6 1.00 - 7 6 0.08 - 11 6 1.47 .90 *0302 2 5 1.29 - 2 5 1.29 - 7 4 0.82 - All othersߥ 25 18 - - 21 14 - - 26 30 - - Total 40 40 6.00 .11 33 33 3.78 .29 53 53 2.48 .48 DRB1-DQA1-DQB1 *0301-*0501-*0201 1 6 3.57 .18 - - - - 7 9 0.25 - *0701-*0201-*0201 2 5 1.29 - 2 5 1.29 .77 4 6 0.40 b0e; .99 All othersߥ 42 34 - - 36 33 - - 46 42 - - Total 45 45 3.80 .15 38 38 0.71 .70 57 57 0.55 .76 DRB3-5 DRB3*0101 2 6 2.00 - - - - - 4 10 2.57 .54 DRB3*0202 7 5 0.33 - 5 5 0.00 - 8 5 0.69 - DRB4*0101 7 13 1.80 - 5 13 3.56 - 16 13 0.31 - DRB5*0101 16 6 4.55 .16 16 5 5.76 .08 12 15 0.33 - All othersߥ 5 7 - - 5 8 - - 11 8 - - Total 37 37 7.20 .13 31 31 7.51 .11 51 51 3.50 .48 TAP1 Ile333Val Ile 14 6 3.20 .07 12 3 5.40 .02 15 13 0.14 .71 TAP1 Asp637Gly Asp 7 6 0.08 .78 5 4 0.11 .74 14 7 2.33 .13 TAP2 Ile379Val Ile 5 5 0.00 b0e; .99 3 5 0.50 .48 9 3 3.00 .08 TAP2 Ala665Thr Ala 5 4 0.11 .74 3 4 0.14 .71 5 7 0.33 .57 Noncandidate alleles either were not significantly associated with sporadic Hodgkin disease or were not evaluated in the study by Klitz et al.16 TAP indicates transporter associated with antigen processing. Login to comment 66 ABCB2 p.Ile379Val Transmission-disequilibrium test results for linkage between familial Hodgkin disease and noncandidate alleles at HLA class II and transporter associated with antigen processing loci, National Cancer Institute, Bethesda, MD, 1978-1993 All familial HD (n ϭ 28) Familial NSHD only (n ϭ 23) Unaffected siblings (n ϭ 40)¶ T NT ␹2 P† T NT ␹2 P† T NT ␹2 P† DRB1 *0301 1 6 3.57 .24 - - - - 7 9 0.25 - *0401 5 4 0.11 - 3 4 0.14 Ͼ .99 11 5 2.25 .53 *1300 3 6 1.00 - 3 4 0.14 Ͼ .99 5 3 0.50 - All others‡ 36 29 - - 32 30 - - 13 14 - - Total 45 45 4.07 .25 38 38 0.23 .97 64 64 2.27 .52 DQA1 *0101 5 7 0.33 - 1 7 4.50 - 7 8 0.07 - *0102 19 9 3.57 .29 19 5 8.17 .02 18 20 0.11 - *0301 5 5 0.00 - 3 5 0.50 - 8 6 0.29 Ͼ .99 *0501 11 12 0.04 - 10 9 0.05 - 14 13 0.04 - All others‡ 3 10 - - 3 10 - - 9 9 - - Total 43 43 6.17 .19 36 36 13.59 .01 56 56 0.41 .98 DQB1 *201 3 11 4.57 .13 3 8 2.27 .53 9 13 0.73 - *0301 10 6 1.00 - 7 6 0.08 - 11 6 1.47 .90 *0302 2 5 1.29 - 2 5 1.29 - 7 4 0.82 - All others‡ 25 18 - - 21 14 - - 26 30 - - Total 40 40 6.00 .11 33 33 3.78 .29 53 53 2.48 .48 DRB1-DQA1-DQB1 *0301-*0501-*0201 1 6 3.57 .18 - - - - 7 9 0.25 - *0701-*0201-*0201 2 5 1.29 - 2 5 1.29 .77 4 6 0.40 Ͼ .99 All others‡ 42 34 - - 36 33 - - 46 42 - - Total 45 45 3.80 .15 38 38 0.71 .70 57 57 0.55 .76 DRB3-5 DRB3*0101 2 6 2.00 - - - - - 4 10 2.57 .54 DRB3*0202 7 5 0.33 - 5 5 0.00 - 8 5 0.69 - DRB4*0101 7 13 1.80 - 5 13 3.56 - 16 13 0.31 - DRB5*0101 16 6 4.55 .16 16 5 5.76 .08 12 15 0.33 - All others‡ 5 7 - - 5 8 - - 11 8 - - Total 37 37 7.20 .13 31 31 7.51 .11 51 51 3.50 .48 TAP1 Ile333Val Ile 14 6 3.20 .07 12 3 5.40 .02 15 13 0.14 .71 TAP1 Asp637Gly Asp 7 6 0.08 .78 5 4 0.11 .74 14 7 2.33 .13 TAP2 Ile379Val Ile 5 5 0.00 Ͼ .99 3 5 0.50 .48 9 3 3.00 .08 TAP2 Ala665Thr Ala 5 4 0.11 .74 3 4 0.14 .71 5 7 0.33 .57 Noncandidate alleles either were not significantly associated with sporadic Hodgkin disease or were not evaluated in the study by Klitz et al.16 TAP indicates transporter associated with antigen processing. Login to comment