Dr Stephanie Hesselson

Visiting Scientist

Research Officer

I received my education from the University of Wisconsin - Madison where I searched for human genes that increase a women’s risk of developing breast cancer. We used loci that increased mammary tumour number in rats as a guide to look for human risk alleles and found two human alleles in the region of the genome homologous to our rat QTL that were associated with breast cancer risk.

My postdoctoral research was conducted at UCSF. I was involved in many different projects studying the role of genes in human complex diseases. Most notably we observed an association between polymorphisms in TRA@ and Narcolepsy in a GWAS suggesting a role of the immune system in narcolepsy. In addition I was involved in the ethnic specific design of 4 Affimetrix SNP arrays and oversaw the genotyping of over 100,000 individuals from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) on these ancestry specific arrays.

Research Interests

Human Genetics
Genetic Basis of Complex Diseases

Awards and Honours

Training Grant, CVRI, UCSF (2007-2010)
Predoctoral Fellowship, DOD Breast Cancer Research Program (2004 – 2007)
Training Grant, Oncology, University of Wisconsin-Madison (2002-2004)
Training Grant, Genetics, University of Wisconsin-Madison (2001-2002)
Phi Beta Kappa (1998)


Ph.D., Genetics/ 2006/ University of Wisconsin-Madison, USA
B.S., Zoology/ 1999 /University of Wisconsin-Madison, USA

Selected Publications

Johnson CO, Lemaitre RN, Fahrenbruch CE, Hesselson S, Sotoodehnia N, McKnight B, Rice KM, Kwok PY, Siscovick DS, Rea TD. Common variation in fatty acid genes and resuscitation from sudden cardiac arrest. (2011) Circulation: Cardiovascular Genetics. 5(4):422-9.

Choi JH, Yee SW, Ramirez AH, Morrissey KM, Jang GH, Joski PJ, Mefford JA, Hesselson SE, Schlessinger A, Jenkins G, Castro RA, Johns SJ, Stryke D, Sali A, Ferrin TE, Witte JS, Kwok PY, Roden D, Wilke RA, McCarty CA, Davis RL, Giacomini KM. A common 5'-UTR variant in MATE2-K is associated with poor response to metformin. (2011).

Clinical Pharmacolology and Therapeutics. 90(5):674-84.

Hoffmann TJ, Zhan Y, Kvale MN, Hesselson SE, Gollub J, Iribarren C, Lu Y, Mei G, Purdy MM, Quesenberry C, Rowell S, Shapero MH, Smethurst D, Somkin CP, Van den Eeden SK, Walter L, Webster T, Whitmer RA, Finn A, Schaefer C, Kwok PY, Risch N. Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm. (2011) Genomics. 98(6):422-430.

Hoffmann TJ*, Kvale MN*, Hesselson SE*, Zhan Y *, Aquino C, Cao Y, Cawley S, Chung E, Connell S, Eshragh J, Ewing M, Gollub J, Henderson M, Hubbell E, Iribarren C, Kaufman J, Lao RZ, Lu Y, Ludwig D, Mathauda GK, McGuire W, Mei G, Miles S, Purdy MM, Quesenberry C, Ranatunga D, Rowell S, Sadler M, Shapero MH, Shen L, Shenoy TR, Smethurst D, Van den Eeden SK, Walter L, Wan E, Wearley R, Webster T, Wen CC, Weng L, Whitmer RA, Williams A, Wong SC, Zau C, Finn A, Schaefer C, Kwok PY, Risch N. Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. (2011) Genomics. 98(2):79-89.   *Authors contributed equally.

Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, Giacomini KM, Kroetz DL, Ahituv N. Functional characterization of liver enhancers that regulate drug-associated transporters. (2011) Clinical Pharmacolology and Therapeutics. 89(4):571-8.

Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, et al Common variants in P2RY11 are associated with narcolepsy. (2011) Nature Genetics. 43:66-71.

Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. (2009) Pharmacogenetics and Genomics. 19(10):770-780.

Hesselson SE, Matsson P, Shima JE, Fukushima H, Yee SW, Kobayashi Y, Gow JM, Ha C, Ma B, Poon A, Johns SJ, Stryke D, Castro RA, Tahara H, Choi JH, Chen L, Picard N, Sjödin E, Roelofs MJ, Ferrin TE, Myers R, Kroetz DL, Kwok PY, Giacomini KM. Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. (2009) PLoS One. 4(9):e6942.

Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SS, Honda Y, Honda M, Högl B, et al Narcolepsy is strongly associated with the T-cell receptor alpha locus. (2009) Nature Genetics. 41(6):708-711.

Chen Y, Teranishi K, Li S, Yee SW, Hesselson S, Stryke D, Johns SJ, Ferrin TE, Kwok P, Giacomini KM.

Genetic variants in multidrug and toxic compound extrusion-1, hMATE1, alter transport function. (2009) The Pharmacogenomics Journal. 9(2):127-136.

Tahara H, Yee SW, Urban TJ, Hesselson S, Castro RA, Kawamoto M, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Giacomini KM. Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). (2009) Journal of Pharmacology and Experimental Therapeutics. 329(1):262-271.

Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. dentification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). (2009) Journal of Pharmacology and Experimental Therapeutics. 328(3):699-707.

Samuelson DJ *, Hesselson SE*, Aperavich BA, Zan Y, Haag JD, Trentham-Dietz A, Hampton JM, Mau B, Chen KS, Baynes C, Khaw KT, Luben R, Perkins B, Shah M, Pharoah PD, Dunning AM, Easton DF, Ponder BA, Gould MN.

Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk. (2007)  Proc Natl Acad Sci USA. 104(15):6299-6304.          *Authors contributed equally.

Nelson SE (maiden name), Gould MN, Hampton JM, Trentham-Dietz A. A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cancer. (2005) Breast Cancer Research. 7(3):R357-364.

Han YS, Chun J, Schwartz A, Nelson S (maiden name), Paskewitz S. Induction of mosquito hemolymph proteins in response to immune challenge and wounding. (1999) Developmental & Comparative Immunology. 23(7-8):553-562.

Dr Stephanie Hesselson