Anna Di Rienzo, PhD

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.

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

Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.
Perera MA, Thirumaran RK, Cox NJ, Hanauer S, Das S, Brimer-Cline C, Lamba V, Schuetz EG, Ratain MJ, Di Rienzo A. Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans. Pharmacogenomics J. 2009 Feb; 9(1):49-60.
PMID: 18825162

Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups.
Innocenti F, Grimsley C, Das S, Ramírez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33.
PMID: 12464801

Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism.
Iyer L, Hall D, Das S, Mortell MA, Ramírez J, Kim S, Di Rienzo A, Ratain MJ. 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.
PMID: 10340924

Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells.
Kariuki SN, Maranville JC, Baxter SS, Jeong C, Nakagome S, Hrusch CL, Witonsky DB, Sperling AI, Di Rienzo A. Mapping Variation in Cellular and Transcriptional Response to 1,25-Dihydroxyvitamin D3 in Peripheral Blood Mononuclear Cells. PLoS One. 2016; 11(7):e0159779.
PMID: 27454520

Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers.
Li H, Giger ML, Sun C, Ponsukcharoen U, Huo D, Lan L, Olopade OI, Jamieson AR, Brown JB, Di Rienzo A. Pilot study demonstrating potential association between breast cancer image-based risk phenotypes and genomic biomarkers. Med Phys. 2014 Mar; 41(3):031917.
PMID: 24593735

Lack of association between common UGT2B nonsynonymous single-nucleotide polymorphisms and breast cancer in populations of African ancestry.
Sun C, Huo D, Nemesure B, Hennis A, Leske MC, Wu SY, Niu Q, Olopade OI, Di Rienzo A. 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.
PMID: 21780111

A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk.
Sun C, Huo D, Southard C, Nemesure B, Hennis A, Cristina Leske M, Wu SY, Witonsky DB, Olopade OI, Di Rienzo A. 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.
PMID: 21660508

SNP discovery, expression and cis-regulatory variation in the UGT2B genes.
Sun C, Southard C, Huo D, Hernandez RD, Witonsky DB, Olopade OI, Di Rienzo A. SNP discovery, expression and cis-regulatory variation in the UGT2B genes. Pharmacogenomics J. 2012 Aug; 12(4):287-96.
PMID: 21358749

Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans.
Huo D, Kim HJ, Adebamowo CA, Ogundiran TO, Akang EE, Campbell O, Adenipekun A, Niu Q, Sveen L, Fackenthal JD, Fackenthal DL, Das S, Cox N, Di Rienzo A, Olopade OI. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. 2008 Jul; 110(2):367-76.
PMID: 17909964

The genetic prehistory of the Andean highlands 7000 years BP though European contact.
Lindo J, Haas R, Hofman C, Apata M, Moraga M, Verdugo RA, Watson JT, Viviano Llave C, Witonsky D, Beall C, Warinner C, Novembre J, Aldenderfer M, Di Rienzo A. The genetic prehistory of the Andean highlands 7000 years BP though European contact. Sci Adv. 2018 11; 4(11):eaau4921.
PMID: 30417096

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