Anna Di Rienzo

Research Summary
Research in our labs focuses on the genetic architecture of traits and diseases that vary across human populations and on understanding the role of natural selection in shaping this architecture. To this end, we use empirical population genetics and functional genomics approaches coupled with computational analyses of genome-scale data.
Human evolution, Adaptation to high altitude hypoxia, Ancient DNA, Human functional evolution
  • University of Rome La Sapienza, Rome, Italy, Human Genetics 10/1980
  • University of Rome La Sapienza, Rome, Italy, Medical Genetics 3/1984
  • Institute of Cell Biology, National Research Council, Rome, Italy, Human Molecular Genetics 9/1988
  • University of California, Berkeley, CA, Human Population Genetics 1/1991
  • University of California, San Francisco, CA, Human Molecular Genetics 8/1992
  1. A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans. Sci Adv. 2022 Nov 25; 8(47):eade1942. View in: PubMed

  2. Getting genetic ancestry right for science and society. Science. 2022 04 15; 376(6590):250-252. View in: PubMed

  3. Ancient genomes from the Himalayas illuminate the genetic history of Tibetans and their Tibeto-Burman speaking neighbors. Nat Commun. 2022 03 08; 13(1):1203. View in: PubMed

  4. Inferring the model and onset of natural selection under varying population size from the site frequency spectrum and haplotype structure. Proc Biol Sci. 2019 02 13; 286(1896):20182541. View in: PubMed

  5. Genetic variant at coronary artery disease and ischemic stroke locus 1p32.2 regulates endothelial responses to hemodynamics. Proc Natl Acad Sci U S A. 2018 11 27; 115(48):E11349-E11358. View in: PubMed

  6. The genetic prehistory of the Andean highlands 7000 years BP though European contact. Sci Adv. 2018 11; 4(11):eaau4921. View in: PubMed

  7. Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal. PLoS Genet. 2018 09; 14(9):e1007650. View in: PubMed

  8. The genomic landscape of Nepalese Tibeto-Burmans reveals new insights into the recent peopling of Southern Himalayas. Sci Rep. 2017 Nov 14; 7(1):15512. View in: PubMed

  9. Correction: A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One. 2017; 12(8):e0183407. View in: PubMed

  10. Ethnically Tibetan women in Nepal with low hemoglobin concentration have better reproductive outcomes. Evol Med Public Health. 2017; 2017(1):82-96. View in: PubMed

  11. A longitudinal cline characterizes the genetic structure of human populations in the Tibetan plateau. PLoS One. 2017; 12(4):e0175885. View in: PubMed

  12. Colonic transcriptional response to 1a,25(OH)2 vitamin D3 in African- and European-Americans. J Steroid Biochem Mol Biol. 2017 04; 168:49-59. View in: PubMed

  13. Genetic structure in the Sherpa and neighboring Nepalese populations. BMC Genomics. 2017 01 19; 18(1):102. View in: PubMed

  14. Editorial overview: Genetics of human origin: New horizons in human population genetics. Curr Opin Genet Dev. 2016 12; 41:v-vi. View in: PubMed

  15. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature. 2016 Oct 13; 538(7624):201-206. View in: PubMed

  16. Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PLoS One. 2016; 11(7):e0159779. View in: PubMed

  17. Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc. Proc Natl Acad Sci U S A. 2016 07 05; 113(27):7485-90. View in: PubMed

  18. Patterns of Transcriptional Response to 1,25-Dihydroxyvitamin D3 and Bacterial Lipopolysaccharide in Primary Human Monocytes. G3 (Bethesda). 2016 05 03; 6(5):1345-55. View in: PubMed

  19. Estimating the Ages of Selection Signals from Different Epochs in Human History. Mol Biol Evol. 2016 Mar; 33(3):657-69. View in: PubMed

  20. Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu. Genetics. 2016 Jan; 202(1):261-72. View in: PubMed

  21. Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans. Gastroenterology. 2015 Nov; 149(6):1575-1586. View in: PubMed

  22. Global diversity, population stratification, and selection of human copy-number variation. Science. 2015 09 11; 349(6253):aab3761. View in: PubMed

  23. Combining genetic and nongenetic biomarkers to realize the promise of pharmacogenomics for inflammatory diseases. Pharmacogenomics. 2014; 15(15):1931-40. View in: PubMed

  24. Strong artificial selection in domestic mammals did not result in an increased recombination rate. Mol Biol Evol. 2015 Feb; 32(2):510-23. View in: PubMed

  25. Adaptations to local environments in modern human populations. Curr Opin Genet Dev. 2014 Dec; 29:1-8. View in: PubMed

  26. In vitro sensitivity assays and clinical response to glucocorticoids in patients with inflammatory bowel disease. J Crohns Colitis. 2014 Nov; 8(11):1539-47. View in: PubMed

  27. Gene expression of peripheral blood cells reveals pathways downstream of glucocorticoid receptor antagonism and nab-paclitaxel treatment. Pharmacogenet Genomics. 2014 Sep; 24(9):451-8. View in: PubMed

  28. Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Med Phys. 2014 Mar; 41(3):031917. View in: PubMed

  29. Admixture facilitates genetic adaptations to high altitude in Tibet. Nat Commun. 2014; 5:3281. View in: PubMed

  30. Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 2014 Feb; 35(2):227-35. View in: PubMed

  31. Comparison of cellular and transcriptional responses to 1,25-dihydroxyvitamin d3 and glucocorticoids in peripheral blood mononuclear cells. PLoS One. 2013; 8(10):e76643. View in: PubMed

  32. Genetic mapping with multiple levels of phenotypic information reveals determinants of lymphocyte glucocorticoid sensitivity. Am J Hum Genet. 2013 Oct 03; 93(4):735-43. View in: PubMed

  33. Plasma hepcidin of Ethiopian highlanders with steady-state hypoxia. Blood. 2013 Sep 12; 122(11):1989-91. View in: PubMed

  34. Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding. Methods Mol Biol. 2013; 1015:201-11. View in: PubMed

  35. Genetic, functional and molecular features of glucocorticoid receptor binding. PLoS One. 2013; 8(4):e61654. View in: PubMed

  36. Incomplete lineage sorting is common in extant gibbon genera. PLoS One. 2013; 8(1):e53682. View in: PubMed

  37. The genetic architecture of adaptations to high altitude in Ethiopia. PLoS Genet. 2012; 8(12):e1003110. View in: PubMed

  38. Reconstructing Native American population history. Nature. 2012 Aug 16; 488(7411):370-4. View in: PubMed

  39. Mapping gene-environment interactions at regulatory polymorphisms: insights into mechanisms of phenotypic variation. Transcription. 2012 Mar-Apr; 3(2):56-62. View in: PubMed

  40. Inter-ethnic differences in lymphocyte sensitivity to glucocorticoids reflect variation in transcriptional response. Pharmacogenomics J. 2013 Apr; 13(2):121-9. View in: PubMed

  41. Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One. 2011; 6(11):e25498. View in: PubMed

  42. Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry. Int J Cancer. 2012 Jun 01; 130(11):2740-2. View in: PubMed

  43. Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes. PLoS Genet. 2011 Jul; 7(7):e1002162. View in: PubMed

  44. A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk. Hum Genet. 2011 Dec; 130(6):767-75. View in: PubMed

  45. A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res. 2011 Jul; 21(7):1087-98. View in: PubMed

  46. Adaptations to climate-mediated selective pressures in humans. PLoS Genet. 2011 Apr; 7(4):e1001375. View in: PubMed

  47. Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR. Gene. 2011 Jul 15; 481(1):24-8. View in: PubMed

  48. SNP discovery, expression and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. 2012 Aug; 12(4):287-96. View in: PubMed

  49. Natural selection and functional genetic variation in the p53 pathway. Hum Mol Genet. 2011 Apr 15; 20(8):1502-8. View in: PubMed

  50. Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet. 2010 Oct 28; 6(10):e1001178. View in: PubMed

  51. Adaptation - not by sweeps alone. Nat Rev Genet. 2010 Oct; 11(10):665-7. View in: PubMed

  52. Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance. Mol Biol Evol. 2011 Jan; 28(1):601-14. View in: PubMed

  53. Adaptations to new environments in humans: the role of subtle allele frequency shifts. Philos Trans R Soc Lond B Biol Sci. 2010 Aug 27; 365(1552):2459-68. View in: PubMed

  54. Using environmental correlations to identify loci underlying local adaptation. Genetics. 2010 Aug; 185(4):1411-23. View in: PubMed

  55. Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency. Proc Natl Acad Sci U S A. 2010 May 11; 107 Suppl 2:8924-30. View in: PubMed

  56. Evolutionary adaptations to dietary changes. Annu Rev Nutr. 2010 Aug 21; 30:291-314. View in: PubMed

  57. rs2981582 is associated with FGFR2 expression in normal breast. Cancer Genet Cytogenet. 2010 Mar; 197(2):193-4. View in: PubMed

  58. Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat. 2010 Jan; 31(1):99-107. View in: PubMed

  59. Spatial patterns of variation due to natural selection in humans. Nat Rev Genet. 2009 Nov; 10(11):745-55. View in: PubMed

  60. Adaptive variation regulates the expression of the human SGK1 gene in response to stress. PLoS Genet. 2009 May; 5(5):e1000489. View in: PubMed

  61. Characterization of a novel splicing variant in the RAPTOR gene. Mutat Res. 2009 Mar 09; 662(1-2):88-92. View in: PubMed

  62. UGT2B7 is not expressed in normal breast. Breast Cancer Res Treat. 2009 Sep; 117(1):225-6. View in: PubMed

  63. Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Pharmacogenomics J. 2009 Feb; 9(1):49-60. View in: PubMed

  64. Adaptations to climate in candidate genes for common metabolic disorders. PLoS Genet. 2008 Feb; 4(2):e32. View in: PubMed

  65. Prevalence of common disease-associated variants in Asian Indians. BMC Genet. 2008 Feb 04; 9:13. View in: PubMed

  66. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. 2008 Jul; 110(2):367-76. View in: PubMed

  67. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet. 2006 Dec; 79(6):991-1001. View in: PubMed

  68. Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombination rates across human populations. Genetics. 2007 Feb; 175(2):795-804. View in: PubMed

  69. Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Mol Biol Evol. 2007 Feb; 24(2):587-98. View in: PubMed

  70. Population genetics models of common diseases. Curr Opin Genet Dev. 2006 Dec; 16(6):630-6. View in: PubMed

  71. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18508-13. View in: PubMed

  72. Sequence diversity and haplotype structure at the human CYP3A cluster. Pharmacogenomics J. 2006 Mar-Apr; 6(2):105-14. View in: PubMed

  73. Comparative genomics analysis of human sequence variation in the UGT1A gene cluster. Pharmacogenomics J. 2006 Jan-Feb; 6(1):52-62. View in: PubMed

  74. Functional constraints on the constitutive androstane receptor inferred from human sequence variation and cross-species comparisons. Hum Genomics. 2005 Sep; 2(3):168-78. View in: PubMed

  75. An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 2005 Nov; 21(11):596-601. View in: PubMed

  76. Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet. 2005 Jul; 117(2-3):258-66. View in: PubMed

  77. Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am J Hum Genet. 2005 Apr; 76(4):548-60. View in: PubMed

  78. CYP3A variation and the evolution of salt-sensitivity variants. Am J Hum Genet. 2004 Dec; 75(6):1059-69. View in: PubMed

  79. Balancing claims for balancing selection. Trends Genet. 2004 Jul; 20(7):300-4. View in: PubMed

  80. Comparative linkage-disequilibrium analysis of the beta-globin hotspot in primates. Am J Hum Genet. 2003 Dec; 73(6):1330-40. View in: PubMed

  81. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33. View in: PubMed

  82. Inferences about human demography based on multilocus analyses of noncoding sequences. Genetics. 2002 Jul; 161(3):1209-18. View in: PubMed

  83. Linkage disequilibrium and age estimates of a deletion polymorphism (1597DeltaC) in HLA-G suggest non-neutral evolution. Hum Immunol. 2002 May; 63(5):405-12. View in: PubMed

  84. Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106. View in: PubMed

  85. Complex signatures of natural selection at the Duffy blood group locus. Am J Hum Genet. 2002 Feb; 70(2):369-83. View in: PubMed

  86. Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet. 2001 Oct; 69(4):831-43. View in: PubMed

  87. Excess of rare amino acid polymorphisms in the Toll-like receptor 4 in humans. Genetics. 2001 Aug; 158(4):1657-64. View in: PubMed

  88. A population genetics study of single nucleotide polymorphisms in the interleukin 4 receptor alpha (IL4RA) gene. Genes Immun. 2001 May; 2(3):128-34. View in: PubMed

  89. Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet. 2000 Nov; 67(5):1251-76. View in: PubMed

  90. Adjusting the focus on human variation. Trends Genet. 2000 Jul; 16(7):296-302. View in: PubMed

  91. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus. Am J Hum Genet. 2000 May; 66(5):1669-79. View in: PubMed

  92. Microsatellite mutations and inferences about human demography. Genetics. 2000 Apr; 154(4):1793-807. View in: PubMed

  93. Variability at the uridine diphosphate glucuronosyltransferase 1A1 promoter in human populations and primates. Pharmacogenetics. 1999 Oct; 9(5):591-9. View in: PubMed

  94. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin Pharmacol Ther. 1999 May; 65(5):576-82. View in: PubMed

  95. mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration? Am J Hum Genet. 1999 Apr; 64(4):1166-76. View in: PubMed

  96. Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum Mol Genet. 1998 Sep; 7(9):1393-8. View in: PubMed

  97. Studies of populations and genetic diseases: mixing it up. Inherited disorders and their genes in different European populations, Acquafredda di Maratea, Italy, 6-11 February 1998. Trends Genet. 1998 Jun; 14(6):218-9. View in: PubMed

  98. Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics. 1998 Mar; 148(3):1269-84. View in: PubMed

  99. Amplification with arbitrary primers. Methods Mol Biol. 1996; 54:123-9. View in: PubMed

  100. Genome mapping by arbitrary amplification of yeast artificial chromosomes. Mamm Genome. 1993; 4(7):359-63. View in: PubMed

  101. Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol. 1993 Oct; 37(4):347-54. View in: PubMed

  102. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12; 91(8):3166-70. View in: PubMed

  103. Different proliferative response of human and chimpanzee lymphocytes after contact with human immunodeficiency virus type 1 gp120. Eur J Immunol. 1994 Jan; 24(1):34-40. View in: PubMed

  104. The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet. 1995 May; 4(5):887-94. View in: PubMed

  105. Association of Hb H disease with sickle-trait. Hemoglobin. 1986; 10(4):421-5. View in: PubMed

  106. Ethiopian National Hepatitis B Study. J Med Virol. 1988 Jan; 24(1):75-84. View in: PubMed

  107. Molecular characterization of HbH disease in the Cuban population. Hum Genet. 1986 Apr; 72(4):318-9. View in: PubMed

  108. Frequency and types of deletional alpha+-thalassemia in northern Sardinia. Hum Genet. 1985; 71(2):147-9. View in: PubMed

  109. Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes. Am J Hum Genet. 1986 Nov; 39(5):631-9. View in: PubMed

  110. Alpha +-thalassemia haplotypes in Italy. Birth Defects Orig Artic Ser. 1987; 23(5A):39-42. View in: PubMed

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  112. Frequency and molecular types of deletional alpha-thalassemia in Egypt. Hum Genet. 1989 Feb; 81(3):211-3. View in: PubMed

  113. A case of hereditary persistence of fetal hemoglobin caused by a gene not linked to the beta-globin cluster. Hum Genet. 1989 Jul; 82(4):335-7. View in: PubMed

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  115. Frequency of the -alpha 3.7 thalassemia deletion in the non-white Cuban population. Gene Geogr. 1990 Aug; 4(2):65-9. View in: PubMed

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  117. Protection against malaria morbidity: near-fixation of the alpha-thalassemia gene in a Nepalese population. Am J Hum Genet. 1991 Feb; 48(2):390-7. View in: PubMed

  118. Molecular characterization of beta-thalassemia mutations in Egypt. Hum Genet. 1990 Aug; 85(3):272-4. View in: PubMed