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Sequenom – A Vital Partner in World-Class Research
Curious about research being done around the world utilizing Sequenom technology? Need ideas for your next grant or project? Check out these new publications, and use the search tool below to find other current and relevant research.
Recent Publications Highlighting Sequenom Technology
- Wilke et al 2009 Genetic variation in CYP27B1 is associated with congestive heart failure in patients with hypertension. Pharmacogenomics. 2009 Nov;10(11):1789-97.
To test the hypothesis that genetic variation in vitamin D-dependent signaling is associated with congestive heart failure in patients with hypertension, assays were developed using the Sequenom system against thirteen polymorphisms in 5 candidate genes of vitamin D synthesis. 205 subjects with hypertension and congestive heart failure (CHF), 206 subjects with hypertension alone and 206 controls were genotyped on the MassARRAY® system. One SNP in CYP27B1 (25-OH vitamin D 1?-hydroxylase, the rate-limiting enzyme in vitamin D synthesis) was found to be associated with CHF, though the mechanism linking the SNP to congestive heart failure remains unclear. A second intronic SNP in the same gene was associated with decreased patient risk for the development of hypertension. This study demonstrates for the first time that genetic variability in CYP27B1 may influence the development of CHF in human subjects with hypertension.
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- Wood et al 2009 Genome-wide association analysis of canine atopic dermatitis and identification of disease related SNPs. Immunogenetics. 2009 Oct 17. ePub
A 40-SNP custom genotyping panel was designed and tested on eight breeds of dogs to study the canine atopic dermatitis (cAD) disease. These targeted SNPs were generated from a whole genome association study (GWAS) result on Golden Retrievers. 41 samples genotyped on both the GWAS arrays and MassARRAY® system showed an average concordance of 99% for all SNPs. 12 of the 40 SNPs were validated as associated with cAD but not among all of the tested breeds. The study demonstrated that the Sequenom system is a powerful tool for validating biomarkers discovered by microarray studies. Abstract
- Schroth et al 2009 Association Between CYP2D6 Polymorphisms and Outcomes Among Women With Early Stage Breast Cancer Treated With Tamoxifen. JAMA, 2009 Oct 7; 302(13):1429-36.
To determine whether CYP2D6 variation is associated with clinical outcomes in women receiving adjuvant tamoxifen, the researchers genotyped CYP2D6 in stored tissue or blood samples from 1,325 tamoxifen-treated breast cancer patients using Sequenom genotyping technology and real-time PCR. Overall, the team identified 1,325 individuals carrying versions of CYP2D6 indicating normal enzymatic activity (EM), reduced enzyme activity (IM), and severely decreased enzyme activity (PM). Follow-up data after a median time of 6.3 years revealed that cancer recurrence was higher in women carrying the "poor metabolism" (PM) versions of CYP2D6. This study, for the first time provides sufficiently powered evidence for an association between CYP2D6 genetics and clinical outcome of tamoxifen.
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- Huang et al. Epigenetic repression of microRNA-129-2 leads to overexpression of SOX4 Oncogene in endometrial cancer. Cancer Res 2009; 69(23):9038–46.
A tissue microarray analysis showed that SOX4 is over-expressed in endometrial tumors. A microRNA (miRNA-129-2) was validated as an upstream regulator of SOX4 using a reporter assay in transfected cells. Methylation of the miRNA-129-2 CpG island was analyzed in 117 endometrial tumors and 8 uninvolved controls using Sequenom’s EpiTYPER™ Technology. Eighty (80) of the tumors were hypermethylated. The hypermethylation results in miRNA-129-2 silencing which in turn de-represses SOX4 expression. This was correlated to shorter overall survival, microsatellite instability and MLH1 methylation status. The results support that a comprehensive screening of miRNA regulators at the 3´UTR regions of all known oncogenes may further our understanding of oncogenesis.
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