Mathias, ScD  Rasika Ann


The Johns Hopkins University School of Medicine

Department of Medicine

Division of Allergy & Clinical Immunology

Johns Hopkins Asthma & Allergy Center

5501 Hopkins Bayview Circle, Rm. 3B.79

Baltimore, MD 21224-6801

Tel:  410-550-2487



Biography: Dr. Rasika Mathias, ScD, is an Associate Professor of Medicine in the Division of Allergy and Clinical Immunology. She maintains a joint appointment in the Division of General Internal Medicine at the Johns Hopkins School of Medicine as well as the Department of Epidemiology at the Johns Hopkins Bloomberg School of Public Health. She is a formally trained Genetic Epidemiologist with a particular emphasis on the genetics of quantitative traits underlying disease phenotypes in the context of family-based designs and health disparities. She obtained her Bachelors of Science in Zoology at Stella Maris College in India and her ScM and ScD in Genetic Epidemiology at the Johns Hopkins Bloomberg School of Public Health. Dr. Mathias underwent her postdoctoral training at the National Human Genome Statistical Geneticist with an emphasis on quantitative trait genetics in the family based design and was recruited as an Assistant Professor of Medicine to The Johns Hopkins School of Medicine in 2009. Dr. Mathias is currently building a program on Next Generation Sequencing approaches to dissecting the genetics of complex diseases with an emphasis on populations of African ancestry focusing on three specific areas of research all tied together by the comment thread of sequencing as a tool to investigate genetic determinants of traits that underlie complex disease in the context of health disparities described under her Current Research.



Current Research: Dr. Mathias has spent over a decade doing research on the genetics of asthma in populations of African ancestry, leading what was the first genomewide association study on the genetics of asthma in a population of African ancestry in 2009. Today she leads a large multi-university team of populations geneticists and genetic epidemiologists on the whole genome sequence analysis of >1000 individuals of African ancestry from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA, The goal of CAAPA is to rely on whole genome sequencing to extend our current understanding of the role of genetic variants as determinants of asthma in populations of African ancestry and to provide a public catalog of genetic variation for the greater use of the scientific community. This work is led by Dr. Kathleen Barnes as the Principal Investigator and industry collaborators including Illumina Inc, and Knome Inc.


Dr. Mathias also works with a with team of premier researches involved in the study of coronary artery disease though the GeneSTAR Program ( The GeneSTAR program aims to discover and amplify mechanisms of atherogenic vascular diseases and attendant comorbidities though a large family-based design and Dr. Mathias is specifically leads a family-based whole genome sequencing study of both European American and African American families to extend the previously done genomewide associations studies on platelet aggregation in these families at higher risk for CAD. As part of her R01, the team will be sequencing >260 individuals with platelet hyper-aggregation from these families followed by targeted next generation sequencing of implicated regions in >1300 additional family members.


As further extension to her research of health disparities, Dr. Mathias has extensive interest in the role of genetic variants in poly-unsaturated fatty acid (PUFA) metabolism. Alongside researchers at Wake Forest University, she has demonstrated the role of selective pressures in the present populations differences at key genetic variants in the fatty acid desaturase (FADS) cluster on chromosome 11q12-13. Dr. Mathias and her team have argued that striking differences in the frequency of genetic variants that predispose an individual to enhanced long-chain PUFA metabolism may explain in part the dramatically higher levels of LC-PUFAs in populations of African ancestry within the US, and therefore play a strong role in the resulting differences noted in chronic diseases of inflammation in African Americans in the US.


Research Position Opportunities: Dr. Mathias current research includes an extensive panel of whole genome sequence data pertaining to >1000 subjects of African ancestry as part of CAAPA and >260 subjects of African and European ancestry from a family-based design as part of GeneSTAR. Research positions are available for these projects.


Selected Publications:

1.                  Barnes KC, Mathias RA, Nickel R, Freidhoff LR, Stockton ML, Xue X, Naidu RP, Levett PN, Casolaro V, Beaty TH. Testing for gene-gene interaction controlling total IgE in families from barbados: Evidence of sensitivity regarding linkage heterogeneity among families. Genomics. 2001;71:246-251


2.                  Mathias RA, Freidhoff LR, Blumenthal MN, Meyers DA, Lester L, King R, Xu JF, Solway J, Barnes KC, Pierce J, Stine OC, Togias A, Oetting W, Marshik PL, Hetmanski JB, Huang SK, Ehrlich E, Dunston GM, Malveaux F, Banks-Schlegel S, Cox NJ, Bleecker E, Ober C, Beaty TH, Rich SS. Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families. Genetic Epidemiology. 2001;20:340-355


3.                  Mathias RA, Roy-Gagnon MH, Justice CM, Papanicolaou GJ, Fan YT, Pugh EW, Wilson AF. Comparison of year-of-exam- and age-matched estimates of heritability in the Framingham Heart Study data. BMC Genetics. 2003;4 Suppl 1:S36


4.                  Mathias RA, Wilson AF, Beaty TH, Liang KY. Model comparison and the likelihood ratio test in segregation analysis. Genetic Epidemiology. 2003;25:382-383

5.                  Mathias RA, Beaty TH, Bailey-Wilson JE, Bickel C, Stockton ML, Barnes KC. Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: Complexities associated with genealogical depth of pedigrees in segregation analyses. Human Heredity. 2005;59:228-238


6.                  Barnes KC, Grant A, Gao P, Baltadjieva D, Berg T, Chi P, Zhang S, Zambelli-Weiner A, Ehrlich E, Zardkoohi O, Brummet ME, Stockton M, Watkins T, Gao L, Gittens M, Wills-Karp M, Cheadle C, Beck LA, Beaty TH, Becker KG, Garcia JG, Mathias RA. Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes. The Journal of Allergy and Clinical Immunology. 2006;118:70-77


7.                  Radha V, Mohan V, Vidya R, Ashok AK, Deepa R, Mathias RA. Association of lipoprotein lipase hind III and ser 447 ter polymorphisms with dyslipidemia in Asian Indians. The American Journal of Cardiology. 2006;97:1337-1342


8.                  Bray PF, Mathias RA, Faraday N, Yanek LR, Fallin MD, Herrera-Galeano JE, Wilson AF, Becker LC, Becker DM. Heritability of platelet function in families with premature coronary artery disease. Journal of Thrombosis and Haemostasis : JTH. 2007;5:1617-1623


9.                  Faraday N, Yanek LR, Mathias R, Herrera-Galeano JE, Vaidya D, Moy TF, Fallin MD, Wilson AF, Bray PF, Becker LC, Becker DM. Heritability of platelet responsiveness to aspirin in activation pathways directly and indirectly related to cyclooxygenase-1. Circulation. 2007;115:2490-2496


10.               Vergara C, Tsai YJ, Grant AV, Rafaels N, Gao L, Hand T, Stockton M, Campbell M, Mercado D, Faruque M, Dunston G, Beaty TH, Oliveira RR, Ponte EV, Cruz AA, Carvalho E, Araujo MI, Watson H, Schleimer RP, Caraballo L, Nickel RG, Mathias RA, Barnes KC. Gene encoding duffy antigen/receptor for chemokines is associated with asthma and IgE in three populations. American Journal of Respiratory and Critical Care Medicine. 2008;178:1017-1022

11.               Price AL, Tandon A, Patterson N, Barnes KC, Rafaels N, Ruczinski I, Beaty TH, Mathias R, Reich D, Myers S. Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genetics. 2009;5:e1000519


12.               Sun H, Swaim A, Herrera JE, Becker D, Becker L, Srivastava K, Thompson LE, Shero MR, Perez-Tamayo A, Suktitipat B, Mathias R, Contractor A, Faraday N, Morrell CN. Platelet kainate receptor signaling promotes thrombosis by stimulating cyclooxygenase activation. Circulation Research. 2009;105:595-603


13.               Won S, Wilk JB, Mathias RA, O'Donnell CJ, Silverman EK, Barnes K, O'Connor GT, Weiss ST, Lange C. On the analysis of genome-wide association studies in family-based designs: A universal, robust analysis approach and an application to four genome-wide association studies. PLoS Genetics. 2009;5:e1000741


14.               Mathias RA **, Grant AV, Rafaels N, Hand T, Gao L, Vergara C, Tsai YJ, Yang M, Campbell M, Foster C, Gao P, Togias A, Hansel NN, Diette G, Adkinson NF, Liu MC, Faruque M, Dunston GM, Watson HR, Bracken MB, Hoh J, Maul P, Maul T, Jedlicka AE, Murray T, Hetmanski JB, Ashworth R, Ongaco CM, Hetrick KN, Doheny KF, Pugh EW, Rotimi CN, Ford J, Eng C, Burchard EG, Sleiman PM, Hakonarson H, Forno E, Raby BA, Weiss ST, Scott AF, Kabesch M, Liang L, Abecasis G, Moffatt MF, Cookson WO, Ruczinski I, Beaty TH, Barnes KC. A genome-wide association study on african-ancestry populations for asthma. The Journal of Allergy and Clinical Immunology. 2010;125:336-346 e334

               ** = featured editor’s choice article


15.               Mathias RA ***, Vergara C, Gao L, Rafaels N, Hand T, Campbell M, Bickel C, Ivester P, Sergeant S, Barnes KC, Chilton FH. Fads genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population. Journal of Lipid Research. 2010;51:2766-2774

               *** = featured on cover of journal issue


16.               Mathias RA, Kim Y, Sung H, Yanek LR, Mantese VJ, Hererra-Galeano JE, Ruczinski I, Wilson AF, Faraday N, Becker LC, Becker DM. A combined genome-wide linkage and association approach to find susceptibility loci for platelet function phenotypes in european american and african american families with coronary artery disease. BMC Medical Genomics. 2010;3:22


17.               Vaidya D, Yanek LR, Herrera-Galeano JE, Mathias RA, Moy TF, Faraday N, Becker LC, Becker DM. A common variant in the Von Willebrand factor gene is associated with multiple functional consequences. American Journal of Hematology. 2010;85:971-973


18.               Mathias RA, Sergeant S, Ruczinski I, Torgerson DG, Hugenschmidt CE, Kubala M, Vaidya D, Suktitipat B, Ziegler JT, Ivester P, Case D, Yanek LR, Freedman BI, Rudock ME, Barnes KC, Langefeld CD, Becker LC, Bowden DW, Becker DM, Chilton FH. The impact of FADS genetic variants on omega6 polyunsaturated fatty acid metabolism in african americans. BMC Genetics. 2011;12:50


19.               Torgerson DG, Ampleford EJ, Chiu GY, Gauderman WJ, Gignoux CR, Graves PE, Himes BE, Levin AM, Mathias RA, Hancock DB, Baurley JW, Eng C, Stern DA, Celedon JC, Rafaels N, Capurso D, Conti DV, Roth LA, Soto-Quiros M, Togias A, Li X, Myers RA, Romieu I, Van Den Berg DJ, Hu D, Hansel NN, Hernandez RD, Israel E, Salam MT, Galanter J, Avila PC, Avila L, Rodriquez-Santana JR, Chapela R, Rodriguez-Cintron W, Diette GB, Adkinson NF, Abel RA, Ross KD, Shi M, Faruque MU, Dunston GM, Watson HR, Mantese VJ, Ezurum SC, Liang L, Ruczinski I, Ford JG, Huntsman S, Chung KF, Vora H, Li X, Calhoun WJ, Castro M, Sienra-Monge JJ, del Rio-Navarro B, Deichmann KA, Heinzmann A, Wenzel SE, Busse WW, Gern JE, Lemanske RF, Jr., Beaty TH, Bleecker ER, Raby BA, Meyers DA, London SJ, Gilliland FD, Burchard EG, Martinez FD, Weiss ST, Williams LK, Barnes KC, Ober C, Nicolae DL. Meta-analysis of genome-wide association studies of asthma in ethnically diverse north american populations. Nature Genetics. 2011;43:887-892


20.               Wegmann D, Kessner DE, Veeramah KR, Mathias RA, Nicolae DL, Yanek LR, Sun YV, Torgerson DG, Rafaels N, Mosley T, Becker LC, Ruczinski I, Beaty TH, Kardia SL, Meyers DA, Barnes KC, Becker DM, Freimer NB, Novembre J. Recombination rates in admixed individuals identified by ancestry-based inference. Nature Genetics. 2011;43:847-853


21.               Yang J, Manolio TA, Pasquale LR, Boerwinkle E, Caporaso N, Cunningham JM, de Andrade M, Feenstra B, Feingold E, Hayes MG, Hill WG, Landi MT, Alonso A, Lettre G, Lin P, Ling H, Lowe W, Mathias RA, Melbye M, Pugh E, Cornelis MC, Weir BS, Goddard ME, Visscher PM. Genome partitioning of genetic variation for complex traits using common snps. Nature Genetics. 2011;43:519-525


22.               Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic pseudomonas aeruginosa infection in cystic fibrosis. Nature Genetics. 2012;44:886-889


23.               Sergeant S, Hugenschmidt CE, Rudock ME, Ziegler JT, Ivester P, Ainsworth HC, Vaidya D, Case LD, Langefeld CD, Freedman BI, Bowden DW, Mathias RA, Chilton FH. Differences in arachidonic acid levels and fatty acid desaturase (FADS) gene variants in african americans and european americans with diabetes or the metabolic syndrome. The British Journal of Nutrition. 2012;107:547-555


24.               Torgerson DG, Capurso D, Ampleford EJ, Li X, Moore WC, Gignoux CR, Hu D, Eng C, Mathias RA, Busse WW, Castro M, Erzurum SC, Fitzpatrick AM, Gaston B, Israel E, Jarjour NN, Teague WG, Wenzel SE, Rodriguez-Santana JR, Rodriguez-Cintron W, Avila PC, Ford JG, Barnes KC, Burchard EG, Howard TD, Bleecker ER, Meyers DA, Cox NJ, Ober C, Nicolae DL. Genome-wide ancestry association testing identifies a common european variant on 6q14.1 as a risk factor for asthma in african american subjects. The Journal of Allergy and Clinical Immunology. 2012;130:622-629 e629


25.               Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C. Resequencing candidate genes implicates rare variants in asthma susceptibility. American Journal of Human Genetics. 2012;90:273-281


26.               Mathias RA, Fu W, Akey JM, Ainsworth HC, Torgerson DG, Ruczinski I, Sergeant S, Barnes KC, Chilton FH. Adaptive evolution of the FADS gene cluster within Africa. PloS One. 2012;7:e44926


27.               1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.

Mentor List:

2012-2013       Abdellah Hedjoudje, Pre-Doctoral Mentor, currently Medical Student at Paris Descartes University, France


2011-2012       Meg Parker, Graduate Studies Mentor, Masters in Genetic Epidemiology, Currently a PhD student at The Bloomberg School of Public Health, Johns Hopkins University


2011-2012       Bhoom Suktitipat, MD, PhD, Post-doctoral mentor, currently a Post Doc with a primary appointment in the National Human Genome Research Institute.


2009-2012       Yoonhee Kim, PhD, Post-doctoral mentor currently a Post Doc with a primary appointment in the FDA. Dr. Kim won the NIH FARE award for outstanding work by a post-doctoral fellow in 2010.


Updated : 9/21/2013