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Feature Publications

  1. Prostate Cancer Susceptibility Loci Identified on Chromosome 12 in African Americans
This study takes a deeper look into the association of prostate cancer with Chromosome 12 polymorphic variations and the genetic risk factors related to prostate cancer health disparities. Prostate cancer disproportionally affects individuals of African descent. Prior studies have not provided consistent association of the disease with chromosome 12. This study used ancestry informative markers (AIMs) to distinguish regions of European or West African origin and tested them for association with prostate cancer. AIMs on chromosome 12, and genome-wide AIMs were genotyped in 253 African prostate cancer patients and 297 controls using Illumina. This was followed with finer mapping of 55 SNPs within the associated regions and genotyped together with 15 SNPs in 2 genes involved in vitamin D metabolism using the Sequenom MassARRAY® system. One SNP in HMGA2, 2 SNPs in the vitamin D receptor gene and 3 SNPs in PAWR were found to be associated with prostate cancer risk. PAWR codes for a tumor suppressor that is highly expressed in the prostate. The risk allele of the most significantly associated SNP is rare in West Africans but the major allele in Europeans.

 

  1. 疾患予後に関連する、GWAS により同定された結腸直腸癌感受性遺伝子座
8 SNPs in known colorectal cancer (CRC) risk genes were analyzed for their association with clinical outcome. 380 Chinese CRC patients were genotyped using iPLEX chemistry. The average call rate was 99.5%, one SNP was excluded due to MAF <2%. One SNP was associated with reduced risk of death. Another SNP in a gene desert was associated with reduced risk of recurrence but only in patients receiving chemotherapy. The effect of chemotherapy on recurrence was only evident in patients with the variant-containing genotyped indicating a borderline significant interaction effect between the genotype and chemotherapy on patient recurrence. This SNP may potentially be used as a biomarker to identify CRC patients with high risk of recurrence after chemotherapy.

 

注：MassARRAY Analyzer 4 システム、OncoCarta、iPLEX Gold、iSEQ、QGE、EpiTYPER、TYPER ソフトウェア、iPLEX ADME PGx パネル、iPLEX ID パネル、Assay Explorer および MelaCarta は、研究用途のみを想定しており、診断用には使用できません。