Anna Di Rienzo
Research Summary / Selected Publications
My research interests deal with the characterization of genetic variation in humans, the elucidation of the forces shaping and maintaining this variation, and the integration of knowledge from evolutionary and disease mapping studies to help dissect the genetic bases of common diseases and variable drug response.
The recent availability of large-scale human variation data has allowed the detection of signals of natural selection on a genome scale and the delineation of the most important selective pressures that acted in humans. At the same time, high-throughput genotyping platforms applied to disease association studies hold great promise for the identification of new susceptibility variants for common diseases. A major theme of the work done in my lab is to link these areas of inquiry and to place the study of common disease phenotypes within a rigorous population genetics framework. To complement the above genome-wide efforts, we perform detailed studies of single genes or groups of genes within pathways; these studies are characterized by a tight connection between population genetics theory, empirical data collection and analytical methods that take into account the complexity of the data. By rooting our analyses deeply into the biology of the genes of interest, we aim to obtain novel insights and generate new models with general applicability.
My research interests deal with the characterization of genetic variation in humans, the elucidation of the forces shaping and maintaining this variation, and the integration of knowledge from evolutionary and disease mapping studies to help dissect the genetic bases of common diseases and variable drug response.
The recent availability of large-scale human variation data has allowed the detection of signals of natural selection on a genome scale and the delineation of the most important selective pressures that acted in humans. At the same time, high-throughput genotyping platforms applied to disease association studies hold great promise for the identification of new susceptibility variants for common diseases. A major theme of the work done in my lab is to link these areas of inquiry and to place the study of common disease phenotypes within a rigorous population genetics framework. To complement the above genome-wide efforts, we perform detailed studies of single genes or groups of genes within pathways; these studies are characterized by a tight connection between population genetics theory, empirical data collection and analytical methods that take into account the complexity of the data. By rooting our analyses deeply into the biology of the genes of interest, we aim to obtain novel insights and generate new models...
M.A. Hancock, D. Witonsky, A. Gordon, G. Eshel, J. K. Pritchard, G. Coop, & A. Di Rienzo (2008) Adaptations to Climate in Candidate Genes for Common Metabolic Disorders. PLoS Genetics (in press)
S. Seixas, G. Suriano, F. Carvalho, R. Seruca, J. Rocha, and A. Di Rienzo (2007) Sequence Diversity at the Proximal 14q32.1 SERPIN Subcluster: Evidence for Natural Selection Favoring the Pseudogenization of SERPINA2 Mol. Biol. Evol. 24(2): 587-598
Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, and Di Rienzo A (2007) Combining sperm typing and LD analyses reveals differences in selective pressures or recombination rates across human populations. Genetics 175:795-804
Di Rienzo A. (2006) Population genetics models of common diseases. Current Opinions in Genetics and Development 16: 630-636
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, & Frayling T (2006) A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in 6 studies and population genetics analyses.
Am. J. Hum. Genet. 79: 991-1001
Thompson EE, Kuttab-Boulos H, Yang L, Roe BA, Di Rienzo A. (2006) Sequence diversity and haplotype structure at the human CYP3A cluster. Pharmacogenomics J. 6:105-14
Maitland, M. L., Grimsley, C., Kuttab-Boulos, H., Witonsky, D., Kasza, K. E., Yang, L., Roe, B. A., & Di Rienzo, A. (2006) Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J 6:52-62
Voight, B. F., Adams, A. M., Frisse, L. A., Qian, Y., Hudson, R. R., & Di Rienzo, A. (2005) Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc. Natl. Acad. Sci. U.S.A. 102: 18508-18513
Vander Molen J., Frisse L. M., Fullerton S. M., Qian Y., del Bosque-Plata L., Hudson R. R., and Di Rienzo A. (2005) Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am. J. Hum. Genet. 76: 548-560.
Thompson, E. E., Kuttab-Boulos, H., Witonsky, D., Yang, L., Roe, B. A., and Di Rienzo, A. (2004)
CYP3A variation and the evolution of salt-sensitivity variants.
Am. J. Hum. Genet. 75: 1059-1069
M.A. Hancock, D. Witonsky, A. Gordon, G. Eshel, J. K. Pritchard, G. Coop, & A. Di Rienzo (2008) Adaptations to Climate in Candidate Genes for Common Metabolic Disorders. PLoS Genetics (in press)
S. Seixas, G. Suriano, F. Carvalho, R. Seruca, J. Rocha, and A. Di Rienzo (2007) Sequence Diversity at the Proximal 14q32.1 SERPIN Subcluster: Evidence for Natural Selection Favoring the Pseudogenization of SERPINA2 Mol. Biol. Evol. 24(2): 587-598
Clark VJ, Ptak SE, Tiemann I, Qian Y, Coop G, Stone AC, Przeworski M, Arnheim N, and Di Rienzo A (2007) Combining sperm typing and LD analyses reveals differences in selective pressures or recombination rates across human populations. Genetics 175:795-804
Di Rienzo A. (2006) Population genetics models of common diseases. Current Opinions in Genetics and Development 16: 630-636
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, Voss LD, Jeffery AN, Metcalf B, Ferrucci L, Corsi AM, Murray A, Melzer D, Knight B, Shields B, Smith GD, Hattersley AT, Di Rienzo A, & Frayling T (2006) A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in 6 studies and population genetics analyses.
Am. J. Hum. Genet. 79: 991-1001
