RGD Reference Report - Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. - Rat Genome Database

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Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.

Authors: Enjuanes, A  Benavente, Y  Bosch, F  Martin-Guerrero, I  Colomer, D  Perez-Alvarez, S  Reina, O  Ardanaz, MT  Jares, P  Garcia-Orad, A  Pujana, MA  Montserrat, E  De Sanjose, S  Campo, E 
Citation: Enjuanes A, etal., Cancer Res. 2008 Dec 15;68(24):10178-86. doi: 10.1158/0008-5472.CAN-08-2221.
RGD ID: 11051968
Pubmed: PMID:19074885   (View Abstract at PubMed)
DOI: DOI:10.1158/0008-5472.CAN-08-2221   (Journal Full-text)

To identify low-penetrance susceptibility alleles for chronic lymphocytic leukemia (CLL), we performed a case-control study genotyping 768 single-nucleotide polymorphisms (SNP) in 692 cases of CLL and 738 controls. We investigated nonsynonymous SNPs, SNPs with potential functional effect, and tag SNPs in regulatory gene regions in a total of 172 genes involved in cancer biology. After adjustment for multiple testing, we found a strong association between CLL risk and six genetic variants: CCNH (rs2266690, V270A), APAF1 (rs17028658, 3'region), IL16 (rs4505265, first intron), CASP8 (rs1045485, D302H), NOS2A (rs2779251, promoter), and CCR7 (rs3136687, intron 1). We found association with CLL susceptibility and 22 haplotypes in APAF1, IL6, TNFRSF13B, IL16, CASP3, CCR7, LTA/TNF, BAX, BCL2, CXCL12, CASP10/CASP8, CASP1, CCL2, BAK1, and IL1A candidate genes. Finally, we evaluated using public data sets the potential functional effect on gene expression levels of the CLL associated genetic variants detected in regulatory regions. Minor alleles for APAF1 and IL16 were associated with lower mRNA levels; no expression differences were observed for CCR7, whereas NOS2A could not be assessed. This study suggests that common genetic variation in apoptosis- and immunoregulation-related genes is associated with the CLL risk.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
B-Cell Chronic Lymphocytic Leukemia  IAGP 11051968 RGD 
B-Cell Chronic Lymphocytic Leukemia  ISOIL1A (Homo sapiens)11051968; 11051968 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il1a  (interleukin 1 alpha)

Genes (Mus musculus)
Il1a  (interleukin 1 alpha)

Genes (Homo sapiens)
IL1A  (interleukin 1 alpha)


Additional Information