ABCMdb

ABCB3 p.Thr655Ala

Predicted by SNAP2:	A: D (59%), C: D (75%), D: D (85%), E: D (85%), F: D (85%), G: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (85%), M: D (80%), N: D (80%), P: D (91%), Q: D (85%), R: D (91%), S: N (66%), V: D (80%), W: D (85%), Y: D (85%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, V: D, W: D, Y: D,

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Publications
[hide] A two-stage evaluation of genetic variation in imm... Cancer Epidemiol Biomarkers Prev. 2012 Oct;21(10):1799-806. doi: 10.1158/1055-9965.EPI-12-0696. Epub 2012 Aug 21. Cerhan JR, Fredericksen ZS, Novak AJ, Ansell SM, Kay NE, Liebow M, Dogan A, Cunningham JM, Wang AH, Witzig TE, Habermann TM, Asmann YW, Slager SL
A two-stage evaluation of genetic variation in immune and inflammation genes with risk of non-hodgkin lymphoma identifies new susceptibility locus in 6p21.3 region.
Cancer Epidemiol Biomarkers Prev. 2012 Oct;21(10):1799-806. doi: 10.1158/1055-9965.EPI-12-0696. Epub 2012 Aug 21., [PMID:22911334]

Abstract [show]
BACKGROUND: Non-Hodgkin lymphoma (NHL) is a malignancy of lymphocytes, and there is growing evidence for a role of germline genetic variation in immune genes in NHL etiology. METHODS: To identify susceptibility immune genes, we conducted a 2-stage analysis of single-nucleotide polymorphisms (SNP) from 1,253 genes using the Immune and Inflammation Panel. In Stage 1, we genotyped 7,670 SNPs in 425 NHL cases and 465 controls, and in Stage 2 we genotyped the top 768 SNPs on an additional 584 cases and 768 controls. The association of individual SNPs with NHL risk from a log-additive model was assessed using the OR and 95% confidence intervals (CI). RESULTS: In the pooled analysis, only the TAP2 coding SNP rs241447 (minor allele frequency = 0.26; Thr655Ala) at 6p21.3 (OR = 1.34, 95% CI 1.17-1.53) achieved statistical significance after accounting for multiple testing (P = 3.1 x 10(-5)). The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95%CI 1.46-2.26; p = 6.9 x 10(-8)), and was independent of other known loci (rs10484561 and rs2647012) from this region. The TAP2 SNP was also associated with diffuse large B-cell lymphoma (DLBCL, OR = 1.38, 95% CI 1.08-1.77; P = 0.011), but not chronic lymphocytic leukemia (OR = 1.08; 95% CI 0.88-1.32). Higher TAP2 expression was associated with the risk allele in both FL and DLBCL tumors. CONCLUSION: Genetic variation in TAP2 was associated with NHL risk overall, and FL risk in particular, and this was independent of other established loci from 6p21.3. Impact: Genetic variation in antigen presentation of HLA class I molecules may play a role in lymphomagenesis. Cancer Epidemiol Biomarkers Prev; 21(10); 1799-806. (c)2012 AACR.

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4 Results: In the pooled analysis, only the TAP2 coding SNP rs241447 (minor allele frequency ¼ 0.26; Thr655Ala) at 6p21.3 (OR ¼ 1.34, 95% CI 1.17-1.53) achieved statistical significance after accounting for multiple testing (P ¼ 3.1 Â 10À5 ). Login to comment