Publications

Undifferentiated induced pluripotent stem cells as a genetic model for nonalcoholic fatty liver disease. Munoz A, Theusch E, Kuang Y-L, Nalula G, Peaslee C, Dorlhiac G, Landry MP, Streets A, Krauss RM, Iribarren C, Mattis AN, Medina MW. Cell Mol Gasteroenterol Hepatol 14(5): 1174-1176 2022

Modest effect of statins on fasting glucose in a longitudinal electronic health record based cohort. Halder T, Oni-Orisan A, Hoffman TJ, Schaefer C, Iribarren C, Krauss RM, Medina MW, Risch N. Cardiovascular Diabetol Jul 14;21(1):132 2022

Identifying Genetic Modulators of Statin Response Using Subject-Derived Lymphoblastoid Cell Lines. Kuang Y-L, Theusch E, Krauss RM, Medina MW. Pharmacogenonics May;22(7):413-421 2021

A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. Veturi Y, Lucas A, Bradford Y, Hoffmann T, Theusch E, Miller JE, Hakonarson H, Kullo I, Sleiman P, Schaid D, Wei W-Q, Stein CM, Velez Edwards DR, Feng QP, Medina MW, Krauss RM, Risch N, Ritchie MD. Nature Genetics Jul;53(7):972-981 2021

Effect of SLC01B1 T512C on statin-induced myotoxicity with use of lovastatin and atorvastatin. Lu B, Sun L, Seraydarian M, Hoffman TJ, Medina MW, Iribarren C, Krauss RM, Risch N, Oni-Orisan A. Clinical Pharmacology & Therapeutics 2021

Doxycycline Significantly Enhances Induction of iPSCs to Endoderm by Enhancing survival via AKT Phosphorylation. Esteva-Font C, Peaslee C, Duwaerts C, Munoz-Howell A, Liu Z, Rao S, Sneddon J, Su T, Liu K, Medina MW, Maher J, Mattis AN. Hepatology 2021

Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines. Theusch E, Chen Y-D I, Rotter JI, Krauss RM, Medina MW. BMC Genomics Aug12;21(1):555. 2020

PI(4,5)P2 regulates plasma cholesterol through LDL receptor lysosomal degradation. Qin Y, Ting F, Kim MJ, Strelnikov J, Harmon J, Gao F, Dose A, Teng B-B, Alipour MA, Yao Z, Crooke R, Krauss RM, Medina MW. ATVB  2020

A genome-wide association study of statin-induced low-density lipoprotein cholesterol response: the impact of adjusting for baseline in pharmacogenetics studies of quantitative change. Oni-Orisan A, Halder T, Ranatunga D, Medina MW, Schaefer C, Krauss RM, Iribarren C, Risch N, Hoffman TJ. NPJ Genomic Medicine 2020

GeneFishing: a computational method to reconstruct comprehensive context-specific portraits of biological processes and its application to cholesterol metabolism. Liu K, Theusch E, Zhou Y, Ashuach T, Dose A, Bickel PJ*, Medina MW*, Huang H*. PNAS  *corresponding author 2019

Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation. Kuang Y-L, Munoz A, Nalula G, Santostefano KE, Sanghez V, Sanchez G, Terada N, Mattis AN, Iacovino M, Iribarren C, Krauss RM, Medina MW. Stem Cell Research 2019.

Characterization of statin dose-response utilizing electronic health records in a large population-based cohort. Oni-Orisan A, Hoffmann TJ, Ranatunga D, Medina MW, Jorgenson E, Schaefer C, Krauss RM, Iribarren C, Risch N. Circulation Genomics and Precision Medicine Sept;11(9)e002043, 2018.

ZNF542P is a pseudogene associated with LDLC response to statin treatment. Kim K, Theusch E, Kuang Y-L, Dose A, Mitchel K, Cubbit K, Chen Y-I, Krauss RM, Medina MW. Scientific Reports Aug 20;8(1):12433 2018.

A large electronic health record-based genome-wide study of serum lipids. Hoffmann TJ, Theusch E, Halder T, Ranatunga DK, Jorgenson E, Medina MW, Kwok P-Y, Schaefer C, Krauss RM, Iribarren C and Risch N. Nature Genetics Mar;50(3):401-413. 2018

Generalized correlation measure using count statistics for time-course gene expression data. Wang RXY, Liu K, Theusch E, Rotter JI, Medina MW, Waterman MS and Huang H. Bioinformatics Feb 15;34(4):617-624. 2018

Validation of electronic health records for the assessment of statin dosing in research. Oni-Orisan A, Hoffmann T, Medina MW, Jorgenson E, Schaefer C, Krauss R, Iribarren C, Risch N. J of Clin Lipidology May 1;11(3):836-837, 2017

Human genetic variation in VAC14 regulates Salmonella invasion and typhoid fever through modulation of cholesterol. Alvarez MI, Glover LC, Lu P, Wang L, Theusch E, Oehlers SH, Walton EM, Tram TTB, Kuang K, Rotter JI, McClean CM, Chinh NT, Medina MW, Tobin DM, Dunstan SJ and Ko DC. PNAS Sept 12;114(37):E7746-7755. PMC5604016, 2017

A candidate-gene study of common functional polymorphisms in SLCO1B1, CYP3A4 and CYP3A5 and cholesterol-lowering response to simvastatin in African Americans and Whites. Kitzmiller JP, Luzum JA, Dauki A, Krauss RM and Medina MW. Clinical and Translational Science May 10(3):172-177. PMC5421731, 2017

SUGP1 is a novel regulator of cholesterol metabolism. Kim MJ*, Yu C-Y*, Theusch E, Naidoo D, Steven K, Kuang Y-L, Schuetz E, Chaudhry AS and Medina MW. Human Molecular Genetics Jul 15;25(14):3106-3116. PMC5181593, 2016

RP1‐13D10.2 is a novel modulator of statin‐induced changes in cholesterol. Mitchel K, Theusch E, Cubitt C, Steven K, Naidoo D and Medina MW. Circulation Cardiovascular Genetics Jun 9(3):223-30. PMC4917428. 2016

Statin‐induced expression change of INSIG1 in lymphoblastoid cell lines is correlated with plasma triglyceride statin response in a sex specific‐manner. Theusch E, Kim K, Steven K, Smith JD, Chen Y-D I, Rotter JI, Nickerson DA and Medina MW. The Pharmacogenomics Journal March 1, 2017.

Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Chhibber A, French C, Yee SW, Gamazon E, Theusch E, Qin X, Webb A, Papp A, Wang A, Simmons C, Konkashbaev A, Chaudhry A, Mitchel K, Stryke D, Ferrin T, Weiss S, Kroetz D, Sadee W, Nickerson D, Krauss K, George A, Scheutz E, Medina MW, Cox N, Scherer S, Brenner S, Giacomini K. The Pharmcogenomics Journal Feb 9, 2016.

GATM Polymorphism and the Risk for Statin‐Induced Myopathy: Previously reported association not confirmed in case-control analysis of 715 dyslipidemic individuals. Luzum JA, Kitzmiller JP, Isackson PJ, Ma C, Medina MW, Dauki AM, Mikulik EB, Ochs-Balcom HM, Vladutiu GD. Cell Metabolism April 21(4):622-627 PMC4394188, 2015.

Individual and combined associations of genetic variants in CYP3A4, CYP3A5 and SLCO1B1 with simvastatin and simvastatin acid plasma concentrations. Luzum J, Theusch E, Taylor K, Wang A, Sadee W, Brinkley PF, Krauss RM, Medina MW, Kitzmiller JP. Journal of Clinical Pharmacology 66(1):80-5 PMC4503374, 2015.

Prediction of LDL cholesterol response to statin using transcriptomic and genetic variation. Kim K, Bolotin E, Theusch E, Huang H, Medina MW*, Krauss RM*. Genome Biology 15:460 *co­corresponding author, 2015.

A polymorphism in HLA‐G modifies statin benefit in asthma. Naidoo D, Wu AC, Brilliant MH, Denny J, Ingram C, Kitchner TE, Linneman JG, McGeachie MJ, Roden DM, Shaffer CM, Shah A, Weeke P, Weiss ST, Xu H, Medina MW. The Pharmacogenomics Journal Jun 15(3): 272-7, 2015.

Transmembrane Protein 55B is a Novel Regulator of Cellular Cholesterol Metabolism. Medina MW*, Bauzon F, Naidoo D, Theusch E, Stevens K, Schilde J, Schubert C, Mangravite LM, Rudel LL, Temel RE, Runz H, Krauss RM. Arterioscler Thromb Vasc Biol. Sep;34(9):1917‐23 *corresponding author, 2014.

Ancestry and other genetic associations with plasma PCSK9 response to simvastatin. Theusch E, Medina MW, Rotter JI, Krauss RM. Pharmacogenetics and Genomics. Aug 2 2014.

CYP3A4*22 and CYP3A5*3 are associated with increased levels of plasma simvastatin concentrations in the Cholesterol and Pharmacogenetics study cohort. Kitzmiller JP, Luzum JA, Baldassarre D, Krauss RM, Medina MW. Pharmacogenetics and Genomics. Aug 1, 2014.

Genome-wide Association and Pharmacological Profiling of 29 Anticancer Agents Using Lymphoblastoid Cell Lines. Brown CC, Havener TM, Medina MW, Krauss RM, McLeod HL, Motsinger‐Reif AA. Pharmacogenomics 15(2):137-46, 2014.

Statin-induced changes in gene expression in EBV‐transformed and native B-cells. Bolotin E, Armendariz A, Kim K, Heo S-J, Boffelli D, Tantisera K, Krauss RM, Medina MW. Human Molecular Genetics Mar 1;23(5):1202‐10, 2014.

HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism. Yu C-Y, Theusch E, Lo K, Mangravite LM, Naidoo D, Kutilova M and Medina MW. Human Molecular Genetics Jan 15;23(2): 319-32 2014.

A statin‐dependent QTL for GATM expression is associated with statin‐induced myopathy. Mangravite LM*, Engelhardt BE*, Medina MW, Smith JD, Brown CD, Chasman DI, Mecham BH, Howie B, Shim H, Naidoo D, Feng Q, Rieder MJ, Chen Y-D, Rotter JI, Ridker PM, Hopewell JC, Parish S, Armitage J, Collins R, Wilke RA, Nickerson DA, Stephens M, Krauss RM. Nature, 502(7471):377-80 *co-­first authors, 2013.

ATHENA: A tool for meta-dimensional analysis applied to genotypes and gene expression data to predict HDL cholesterol levels. Holzinger ER, Dudek SM, Frase AT, Krauss RM, Medina MW and Ritchie MD. Pacific Symposium on Biocomputing 385‐96 PMCID: PMC3587764, 2013.

Alternative splicing in the regulation of cholesterol homeostasis. Medina MW* and Krauss RM. Current Opinion in Lipidology Apr;24(2):147-52 PMCID: PMC3667406 *corresponding author, 2013.

A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function. Gao F, Ihn HE, Medina MW and Krauss RM. Human Molecular Genetics Apr 1;22(7):1424-31 PMCID: PMC3596853, 2013.

Multivariate methods and software for association mapping in dose-response genome-wide association studies. Brown CC, Havener TM, Medina MW, Krauss RM, McLeod HL and Motsinger-Reif AA. BioData Mining Dec 12;5(1):21 PMCID: PMC3661384, 2012.

RHOA is a modulator of the cholesterol‐lowering effects of statin. Identification of a loci on chromosome 3 associated with statin response. Medina MW*, Theusch E, Naidoo D, Bauzon F, Stevens K, Mangravite L, Kuang YL and Krauss RM*. PLoS Genetics *co-corresponding authors, 2012.

A genome‐wide association analysis of temozolomide response using lymphoblastoid cell lines reveals a clinically relevant association with MGMT. Brown CC, Havener TM, Medina MW, Auman JT, Mangravite LM, Krauss RM, McLeod HL and Motsinger-Reif AA. Pharmacogenetics and Genomics 22(11):796-­‐802 PMCID: PMC3691078, 2012.

Cardiovascular Pharmacogenomics. Roden DM, Johnson JA, Kimmel S, Krauss RM, Medina MW, Shuldiner A, and Wilke RA. Circulation Research, Sept 16;109(7):807‐20. PMCID: PMC3201825, 2011.

Coordinately regulated alternative splicing of genes involved in cholesterol biosynthesis and uptake. Medina MW*, Gao F*, Naidoo D, Rudel LL, Temel RE, McDaniel AL, Marshall SM and Krauss RM. PLoS One, 6(4):e19420 PMCID: PMC3084847 *co‐first authors, 2011.

PharmGKB: very Important pharmacogene: HMGCR. Medina MW, Sangkuhl K, Klein TE and Altmann RB. Pharmacogenetics and Genomics, Feb:21(2):98-101 PMCID: PMC3098759, 2011.

The relationship between HMGCR genetic variation, alternative splicing, and statin efficacy. Medina MW. Discovery Medicine, 9(49):495‐9 PMID 20587337, 2010.

Combined influence of LDLR and HMGCR sequence variation on lipid‐ lowering response to simvastatin. Medina MW*, Mangravite LM*, Ciu J, Pressman S, Smith JD, Rieder MJ, Guo X, Nickerson DA, Rotter JI and Krauss RM. Arterioscler Thromb Vasc Biol, 30(7):1485‐92 PMCID: PMC2909117 *co‐first authors, 2010.

Pharmacogenomic Discovery Using Cell-Based Models. Welsh M, Mangravite L, Medina MW, Tantisira K, Zhang W, Huang RS, McLeod H and Dolan ME. Pharmacological Reviews, 61(4):413‐29 PMCID: PMC2802425, 2009.

The role of HMGCR alternative splicing in statin efficacy. Medina MW and Krauss RM. Trends in Cardiovascular Medicine. 19(5):173‐77, PMCID: PMC2805071, 2009.

Alternative splicing of HMGCR is associated with plasma LDL cholesterol response to simvastatin. Medina MW, Gao F, Ruan W, Rotter JI and Krauss RM. Circulation, 118(4):355-62 PMCID: PMC2720070, 2008.

Variation in the HMG-CoA Reductase gene is associated with racial differences in LDL cholesterol response to simvastatin treatment. Krauss RM, Mangravite LM, Smith JD, Medina MW, Rieder MJ, Simon JA, Hulley SV, Waters D, Saad M, Williams PT, Taylor K, Yang H, Nickerson DA and Rotter JI. Circulation 117(12):1537-44. PMID 18332269; 2008

Real‐time PCR for mRNA quantitation. Wong ML and Medrano JF. Biotechniques 39(1):75-85 PMID: 16060372, 2005

Structural characterization of the mouse High Growth deletion and discovery of a novel fusion transcript between Socs-2 and Plexin C1. Wong ML, Islas‐Trejo A and Medrano JF. Gene 299(1‐ 2):153-63. PMID: 12459263, 2002