Document Detail

The mannose-binding lectin (MBL2) haplotype and breast cancer: an association study in African-American and Caucasian women.
MedLine Citation:
PMID:  17071626     Owner:  NLM     Status:  MEDLINE    
Common genetic variants in cancer-related genes contribute to breast cancer. The innate immune system plays a crucial role in the immune surveillance against malignancies, thus it is plausible that genetic variations in key genes of the innate immunity such as the mannose-binding lectin (MBL), MBL2, could influence the risk for breast cancer. We investigated the association of MBL2 genotypes with breast cancer and conducted a comprehensive genotype and haplotype analysis of 26 MBL2 single nucleotide polymorphisms (SNPs) in a case-control study of breast cancer [166 African-American (AA) case patients versus 180 controls and 127 Caucasian (CAU) case patients versus 137 controls]. We observed that the A allele of the 3'-UTR SNP Ex4-1067 (NCBI SNP ID: rs10824792) was significantly associated with a decreased disease risk in AA women [odds ratio (OR) = 0.47, 95% confidence interval (CI) = 0.27-0.81]. Haplotype analysis of MBL2 showed that the frequency of the corresponding 3' haplotype TATAAC (Ex4-1483, Ex4-1067, Ex4-1047, Ex4-901, Ex4-710, 3238bp 3' STP) was lower in cases than controls among AA women (0.15 versus 0.21; P = 0.02) suggesting a protective effect after adjusting for covariates (OR = 0.51, 95% CI = 0.29-0.88, P = 0.018). In conclusion, this study presents preliminary evidence that common genetic variants in the 3'-UTR of MBL2 might influence the risk for breast cancer in AA women, probably in interaction with the 5' secretor haplotypes that are associated with high concentrations of MBL.
Toralf Bernig; Brenda J Boersma; Tiffany M Howe; Robert Welch; Sunita Yadavalli; Brian Staats; Leah E Mechanic; Stephen J Chanock; Stefan Ambs
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Publication Detail:
Type:  Journal Article; Multicenter Study; Research Support, N.I.H., Intramural     Date:  2006-10-27
Journal Detail:
Title:  Carcinogenesis     Volume:  28     ISSN:  0143-3334     ISO Abbreviation:  Carcinogenesis     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-03-30     Completed Date:  2007-05-10     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8008055     Medline TA:  Carcinogenesis     Country:  England    
Other Details:
Languages:  eng     Pagination:  828-36     Citation Subset:  IM    
Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH) Bethesda, MD 20892-4258, USA.
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MeSH Terms
3' Untranslated Regions / genetics
African Americans / genetics*
Breast Neoplasms / blood,  ethnology,  genetics*
Ethnic Groups / genetics*
European Continental Ancestry Group / genetics*
Genetic Markers
Genetic Variation*
Haplotypes / genetics*
Linkage (Genetics)
Mannose-Binding Lectin / blood,  genetics*
Middle Aged
United States / epidemiology
Reg. No./Substance:
0/3' Untranslated Regions; 0/Genetic Markers; 0/MBL2 protein, human; 0/Mannose-Binding Lectin

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