title: Polymorphisms in the promoter region of the CASP8 gene are not associated with non-Hodgkin's lymphoma in Chinese patients.
abstract: Caspase-8 (CASP8) involved in apoptosis plays an important role in mediating the normal regulation of cell proliferation, differentiation, inflammation, and homeostasis of multicellular organisms. Genetic polymorphisms, rs3834129 (-/CTTACT) and rs3769821 (T/C), in the promoter region of different CASP8 transcripts, were reported to be associated with genetic susceptibility of multiple cancers and non-Hodgkin's lymphoma (NHL), respectively. To investigate whether these two genetic variants, together with rs113686495 (-/CTGTCATT) which is 50 bp downstream of rs3769821, were associated with NHL in Chinese patients, we genotyped two cohorts of case and control samples from Kunming (case n = 64, control n = 133) and Shanghai (case n = 75, control n = 107). Luciferase assays were further performed to characterize the potential role of different alleles in the promoter region of the CASP8 gene. In contrast to previous studies, we found no difference regarding the genotypes and haplotypes of rs3834129, rs3769821, and rs113686495 between the case and control samples. Luciferase assays of the promoter regions harboring different alleles of these three variants also showed no difference. Our negative results gave no support for an active role for these genetic variants in conferring NHL in Chinese patients.
authors.affiliation: Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China.
authors.forename: Mei-Sheng
authors.initials: MS
authors.lastname: Xiao
authors.forename: Deng-Feng
authors.initials: DF
authors.lastname: Zhang
authors.forename: Yun
authors.initials: Y
authors.lastname: Zeng
authors.forename: Yun-Feng
authors.initials: YF
authors.lastname: Cheng
authors.forename: Yong-Gang
authors.initials: YG
authors.lastname: Yao
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D053181:Caspase 8 / Q000235:genetics* / Q000378:metabolism; D045744:Cell Line, Tumor; D002681:China; D015331:Cohort Studies; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D017930:Genes, Reporter; D057809:HEK293 Cells; D006367:HeLa Cells; D006801:Humans; D008228:Lymphoma, Non-Hodgkin / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D009363:Neoplasm Proteins; D012333:RNA, Messenger; C505530:CASP8 protein, human; D053181:Caspase 8