Citations 2
PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium
Nieters, Alexandra, Conde, Lucía , Morton, Lindsay M. , Skibola, Danica R., Novak, Anne J. , Riby, Jacques, Ansell, Stephen M. , Halperin, Eran , Agana, Luz, Wang, Alice H., Roos, Anneclaire J. De , Severson, Richard K., Spinelli, John, Butterbach, Katja, Becker, Nikolaus, Sanjosé, Sílvia de , Benavente, Yolanda , Cocco, Pierluigi , Staines, Anthony , Foretová, Lenka , Brennan, Paul , Lan, Qing , Zheng, Tongzhang, Purdue, Mark P. , Armstrong, Bruce K. , Kricker, Anne , Vajdic, Claire M. , Grulich, Andrew E. , Smith, Martyn T. , Bracci, Paige M. , Hartge, Patricia, Cerhan, James R. , Wang, Sophia , Rothman, Nathaniel , Skibola, Christine F., Slager, Susan L. , Brooks‐Wilson, Angela , Shanafelt, Tait D. , Cozen, Wendy , Maynadié, Marc , Boffetta, Paolo , Zhang, Yawei , Chanock, Stephen Jacob , Cerhan, James R , Cocco, Pierluigi , Vajdic, Claire M , Morton, Lindsay M , De Roos, Anneclaire J , Wang, Sophia S
Blood | October 10, 2012 | Volume: 120 | Issue: 23 | Pages: 4645-4648
AbstractMany common genetic variants have been associated with non-Hodgkin lymphoma (NHL), but individual study results are often conflicting. To confirm the role of putative risk alleles in B-cell NHL etiology, we performed a validation genotyping study of 67 candidate single nucleotide polymorphisms within InterLymph, a large international consortium of NHL case-control studies. A meta-analysis was performed on data from 5633 B-cell NHL cases and 7034 controls from 8 InterLymph studies. rs3789068 in the proapoptotic BCL2L11 gene was associated with an increased risk for B-cell NHL (odds ratio = 1.21, P random = 2.21 × 10−11), with similar risk estimates for common B-cell subtypes. PRRC2A rs3132453 in the HLA complex class III region conferred a reduced risk of B-cell NHL (odds ratio = 0.68, P random = 1.07 × 10−9) and was likewise evident for common B-cell subtypes. These results are consistent with the known biology of NHL and provide insights into shared pathogenic components, including apoptosis and immune regulation, for the major B-cell lymphoma subtypes.
Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia
Skibola, Christine F., Bernardo, Maria Chiara Di, Conde, Lucía , Broderick, Peter , McDonnell, Shannon K. , Goldin, Lynn R. , Croft, Naomi, Holroyd, Amy, Harris, Shelley , Riby, Jacques, Serie, Daniel, Call, Timothy G. , Bracci, Paige M. , Halperin, Eran , Lanasa, Mark C., Cunningham, Julie M. , Leis, José F., Morrison, Vicki A., Spector, Logan G. , Vachon, Celine M. , Strom, Sara S., Camp, Nicola J. , Weinberg, J. Brice , Matutes, Estella , Caporaso, Neil E., Wade, Rachel , Dyer, Martin J.S. , Dearden, Claire , Cerhan, James R. , Catovsky, Daniel , Houlston, Richard S. , Slager, Susan L. , Kay, Neil E. , Vachon, Celine M. , Shanafelt, Tait D. , Cerhan, James R , Houlston, Richard S , McDonnell, Shannon K
Blood | June 15, 2012 | Volume: 120 | Issue: 4 | Pages: 843-846
Abstract We performed a meta-analysis of 3 genome-wide association studies to identify additional common variants influencing chronic lymphocytic leukemia (CLL) risk. The discovery phase was composed of genome-wide association study data from 1121 cases and 3745 controls. Replication analysis was performed in 861 cases and 2033 controls. We identified a novel CLL risk locus at 6p21.33 (rs210142; intronic to the BAK1 gene, BCL2 antagonist killer 1; P = 9.47 × 10−16). A strong relationship between risk genotype and reduced BAK1 expression was shown in lymphoblastoid cell lines. This finding provides additional support for polygenic inheritance to CLL and provides further insight into the biologic basis of disease development.