This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Feigelson, H. S. Articles by Chanock, S. J. Search for Related Content PubMed PubMed Citation Articles by Feigelson, H. S. Articles by Chanock, S. J.

Successful Genome-Wide Scan in Paired Blood and Buccal Samples

¹ Department of Epidemiology and Surveillance Research, American Cancer Society, NE, Atlanta, Georgia; ² Intramural Research Support Program Science Applications International Corporation-Frederick, National Cancer Institute-Frederick, Frederick, Maryland; ³ Core Genotyping Facility, ⁴ Division of Cancer Epidemiology and Genetics, and ⁵ Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland; and ⁶ Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, and ⁷ Channing Laboratory, Brigham and Women's Hospital, Boston, Massachusetts

Requests for reprints: H.S. Feigelson, Department of Epidemiology and Surveillance Research, American Cancer Society, 1599 Clifton Road, NE, Atlanta, GA. Phone: 404-929-6815; Fax: 404-327-6450. E-mail: heather.feigelson{at}cancer.org

Interest in genome-wide association studies to identify susceptibility alleles for cancer is growing, and several are currently planned or under way. Although the feasibility of collecting buccal cell samples as an alternative to venous blood samples as a source of genomic DNA has been shown, the validity of using DNA from buccal cells for genome-wide scans has not been assessed. We used 46 paired buffy coat and buccal cell samples to test the feasibility of using DNA from buccal cells for genotyping with the HumanHap300 Bead Chip (v.1.0.0) on the Illumina Infinium II platform. Genotyping was successful in every sample, regardless of DNA yield or sample type. Of the 317,502 genotypes attempted, 315,314 (99.3%) were successfully called. Completion rates were similar for buffy coat and buccal cell samples (99.63% and 99.44%, respectively; P = 0.15). Completion rates <99% were observed in only four samples and did not differ by specimen type. The paired samples showed exceptionally high concordance (99.96%). These results show that buccal cell samples collected and processed under optimal conditions can be used for genome-wide association studies with results comparable to those obtained from DNA extracted from buffy coat. (Cancer Epidemiol Biomarkers Prev 2007;16(5):1023–5)