Genetic Background of Patients from a University Medical Center in Manhattan: Implications for Personalized Medicine

• Published in: PloS one Vol. 6; no. 5; p. e19166
• Main Authors: Tayo, Bamidele O., Teil, Marie, Tong, Liping, Qin, Huaizhen, Khitrov, Gregory, Zhang, Weijia, Song, Quinbin, Gottesman, Omri, Zhu, Xiaofeng, Pereira, Alexandre C., Cooper, Richard S., Bottinger, Erwin P.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 04.05.2011; Public Library of Science (PLoS)
• Subjects: Academic Medical Centers; Adult; African Americans; Algorithms; Biology; Body Mass Index; Cardiovascular disease; Complexity; Coronary vessels; Data processing; Disease prevention; DNA microarrays; Epidemiology; European Continental Ancestry Group; Female; Gene frequency; Genes; Genetic aspects; Genetic diversity; Genetics; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Genotype; Haplotypes; Haplotypes - genetics; Health care facilities; Heterogeneity; Hispanic Americans; Humans; Labels; Linkage Disequilibrium - genetics; Loci; Male; Medical centers; Medical practice; Medical schools; Medicine; Metabolism; Middle Aged; Minority & ethnic groups; New York City; Population; Population genetics; Population studies; Precision medicine; Precision Medicine - methods; Preventive medicine; Principal Component Analysis; Social and Behavioral Sciences; Therapeutic applications; Type 2 diabetes; New York City; Cleveland Ohio; New York; Ohio; United States > US; Illinois
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0019166

The rapid progress currently being made in genomic science has created interest in potential clinical applications; however, formal translational research has been limited thus far. Studies of population genetics have demonstrated substantial variation in allele frequencies and haplotype structure at loci of medical relevance and the genetic background of patient cohorts may often be complex. To describe the heterogeneity in an unselected clinical sample we used the Affymetrix 6.0 gene array chip to genotype self-identified European Americans (N = 326), African Americans (N = 324) and Hispanics (N = 327) from the medical practice of Mount Sinai Medical Center in Manhattan, NY. Additional data from US minority groups and Brazil were used for external comparison. Substantial variation in ancestral origin was observed for both African Americans and Hispanics; data from the latter group overlapped with both Mexican Americans and Brazilians in the external data sets. A pooled analysis of the African Americans and Hispanics from NY demonstrated a broad continuum of ancestral origin making classification by race/ethnicity uninformative. Selected loci harboring variants associated with medical traits and drug response confirmed substantial within- and between-group heterogeneity. As a consequence of these complementary levels of heterogeneity group labels offered no guidance at the individual level. These findings demonstrate the complexity involved in clinical translation of the results from genome-wide association studies and suggest that in the genomic era conventional racial/ethnic labels are of little value.