ABCMdb

PMID: 25008864

Aissani B, Boehme AK, Wiener HW, Shrestha S, Jacobson LP, Kaslow RA
SNP screening of central MHC-identified HLA-DMB as a candidate susceptibility gene for HIV-related Kaposi's sarcoma.
Genes Immun. 2014 Sep;15(6):424-9. doi: 10.1038/gene.2014.42. Epub 2014 Jul 10., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCB2 p.Asp697Gly ABCB2 p.Ile393Val 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 ABCB2 p.Asp697Gly ABCB2 p.Ile393Val 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 ABCB2 p.Asp697Gly ABCB2 p.Ile393Val 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 ABCB2 p.Asp697Gly ABCB2 p.Ile393Val 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