Common genetic variants account for differences in gene expression among ethnic groups

Nature Genetics

Volumn 39, Issue 2, 2007, Pages 226-231

  Spielman, Richard S ^a   Bastone, Laurel A ^a   Burdick, Joshua T ^b   Morley, Michael ^b   Ewens, Warren J ^c   Cheung, Vivian G ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASIA; CIS ISOMER; CONTROLLED STUDY; ETHNICITY; EUROPE; GENE EXPRESSION; GENE FREQUENCY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; QUANTITATIVE GENETICS; REGULATOR GENE;

ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENETICS, POPULATION; HUMANS; JAPAN; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 33846631884     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1955     Document Type: Article

References (20)

1. Schadt, E.E. et al. Genetics of gene expression surveyed in maize, mouse and man. Nature 422, 297-302 (2003).
2. Cheung, V.G. et al. Natural variation in human gene expression assessed in lymphoblastoid cells. Nat. Genet. 33, 422-425 (2003).
3. Cheung, V.G. et al. Mapping determinants of human gene expression by regional and genome-wide association. Nature 437, 1365-1369 (2005).
4. Morley, M. et al. Genetic analysis of genome-wide variation in human gene expression. Nature 430, 743-747 (2004).
5. Stranger, B.E. et al. Genome-wide associations of gene expression variation in humans. PLoS Genet. 1, e78 (2005).
6. Monks, S.A. et al. Genetic inheritance of gene expression in human cell lines. Am. J. Hum. Genet. 75, 1094-1105 (2004).
7. Yan, H., Yuan, W., Velculescu, V.E., Vogelstein, B. & Kinzler, K.W. Allelic variation in human gene expression. Science 297, 1143 (2002).
8. Pastinen, T. et al. A survey of genetic and epigenetic variation affecting human gene expression. Physiol. Genomics 16, 184-193 (2004).
9. Tsui, L.C. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum. Mutat. 1, 197-203 (1992).
10. Paw, B.H., Tieu, P.T., Kaback, M.M., Lim, J. & Neufeld, E.F. Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am. J. Hum. Genet. 47, 698-705 (1990).
11. The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
12. Westfall, P.H. & Young, S.S. Resampling-Based Multiple Testing (John Wiley & Sons, New York, 1992).
13. Wilson, W., III. et al. Characterization of a common deletion polymorphism of the UGT2B17 gene linked to UGT2B15. Genomics 84, 707-714 (2004).
14. McCarroll, S.A. et al. Common deletion polymorphisms in the human genome. Nat. Genet. 38, 86-92 (2006).
15. Hinds, D.A. et al. Whole-genome patterns of common DNA variation in three human populations. Science 307, 1072-1079 (2005).
16. Eisen, M.B., Spellman, P.T., Brown, P.O. & Botstein, D. Cluster analysis and display of genome-wide expression patterns. Proc. Natl. Acad. Sci. USA 95, 14863-14868 (1998).
17. Osada, N., Kohn, M.H. & Wu, C.I. Genomic inferences of the cis-regulatory nucleotide polymorphisms underlying gene expression differences between Drosophila melanogaster mating races. Mol. Biol. Evol. 23, 1585-1591 (2006).
18. McEvoy, B., Beleza, S. & Shriver, M.D. The genetic architecture of normal variation in human pigmentation: An evolutionary perspective and model. Hum. Mol. Genet. 15, R176-R181 (2006).
19. Lamason, R.L. et al. SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science 310, 1782-1786 (2005).
20. Knight, J.C. Regulatory polymorphisms underlying complex disease traits. J. Mol. Med. 83, 97-109 (2005).