Joanne Cole, PhD
Assistant Professor, Biomedical Informatics

Professional Titles

• Assistant Professor

Research Interests

Publications

• Cole JB, Westerman KE, Manning AK, Florez JC, Hirschhorn JN. Corrigendum: Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank. Front Genet. 2023;14:1202158. PubMed PMID: 37214416
• Huerta-Chagoya A, Schroeder P, Mandla R, Deutsch AJ, Zhu W, Petty L, Yi X, Cole JB, Udler MS, Dornbos P, Porneala B, DiCorpo D, Liu CT, Li JH, Szczerbinski L, Kaur V, Kim J, Lu Y, Martin A, Eizirik DL, Marchetti P, Marselli L, Chen L, Srinivasan S, Todd J, Flannick J, Gubitosi-Klug R, Levitsky L, Shah R, Kelsey M, Burke B, Dabelea DM, Divers J, Marcovina S, Stalbow L, Loos RJF, Darst BF, Kooperberg C, Raffield LM, Haiman C, Sun Q, McCormick JB, Fisher-Hoch SP, Ordoñez ML, Meigs J, Baier LJ, González-Villalpando C, González-Villalpando ME, Orozco L, García-García L, Moreno-Estrada A, Aguilar-Salinas CA, Tusié T, Dupuis J, Ng MCY, Manning A, Highland HM, Cnop M, Hanson R, Below J, Florez JC, Leong A, Mercader JM. The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes. Diabetologia. 2023 Jul;66(7):1273-1288. PubMed PMID: 37148359
• Cromer SJ, Lakhani CM, Mercader JM, Majarian TD, Schroeder P, Cole JB, Florez JC, Patel CJ, Manning AK, Burnett-Bowie SM, Merino J, Udler MS. Association and Interaction of Genetics and Area-Level Socioeconomic Factors on the Prevalence of Type 2 Diabetes and Obesity. Diabetes Care. 2023 May 1;46(5):944-952. PubMed PMID: 36787958
• Sandholm N, Cole JB, Nair V, Sheng X, Liu H, Ahlqvist E, van Zuydam N, Dahlström EH, Fermin D, Smyth LJ, Salem RM, Forsblom C, Valo E, Harjutsalo V, Brennan EP, McKay GJ, Andrews D, Doyle R, Looker HC, Nelson RG, Palmer C, McKnight AJ, Godson C, Maxwell AP, Groop L, McCarthy MI, Kretzler M, Susztak K, Hirschhorn JN, Florez JC, Groop PH. Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease. Diabetologia. 2022 Sep;65(9):1495-1509. PubMed PMID: 35763030
• Dornbos P, Koesterer R, Ruttenburg A, Nguyen T, Cole JB, Leong A, Meigs JB, Florez JC, Rotter JI, Udler MS, Flannick J. A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels. Nat Genet. 2022 Nov;54(11):1609-1614. PubMed PMID: 36280733
• DiCorpo D, LeClair J, Cole JB, Sarnowski C, Ahmadizar F, Bielak LF, Blokstra A, Bottinger EP, Chaker L, Chen YI, Chen Y, de Vries PS, Faquih T, Ghanbari M, Gudmundsdottir V, Guo X, Hasbani NR, Ibi D, Ikram MA, Kavousi M, Leonard HL, Leong A, Mercader JM, Morrison AC, Nadkarni GN, Nalls MA, Noordam R, Preuss M, Smith JA, Trompet S, Vissink P, Yao J, Zhao W, Boerwinkle E, Goodarzi MO, Gudnason V, Jukema JW, Kardia SLR, Loos RJF, Liu CT, Manning AK, Mook-Kanamori D, Pankow JS, Picavet HSJ, Sattar N, Simonsick EM, Verschuren WMM, Willems van Dijk K, Florez JC, Rotter JI, Meigs JB, Dupuis J, Udler MS. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 Mar 1;45(3):674-683. PubMed PMID: 35085396
• O'Connor MJ, Schroeder P, Huerta-Chagoya A, Cortés-Sánchez P, Bonàs-Guarch S, Guindo-Martínez M, Cole JB, Kaur V, Torrents D, Veerapen K, Grarup N, Kurki M, Rundsten CF, Pedersen O, Brandslund I, Linneberg A, Hansen T, Leong A, Florez JC, Mercader JM. Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes. Diabetes. 2022 Mar 1;71(3):554-565. PubMed PMID: 34862199
• Null M, Yilmaz F, Astling D, Yu HC, Cole JB, Hallgrímsson B, Santorico SA, Spritz RA, Shaikh TH, Hendricks AE. Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans. HGG Adv. 2022 Jan 13;3(1):100082. PubMed PMID: 35047866
• Cole JB, Gabbianelli R. Editorial: Recent advances in nutrigenomics: Making strides towards precision nutrition. Front Genet. 2022;13:997266. PubMed PMID: 36204315
• Kim H, Westerman KE, Smith K, Chiou J, Cole JB, Majarian T, von Grotthuss M, Kwak SH, Kim J, Mercader JM, Florez JC, Gaulton K, Manning AK, Udler MS. High-throughput genetic clustering of type 2 diabetes loci reveals heterogeneous mechanistic pathways of metabolic disease. Diabetologia. 2022 Dec 20. [Epub ahead of print] PubMed PMID: 36538063
• Shah RV, Steffen LM, Nayor M, Reis JP, Jacobs DR, Allen NB, Lloyd-Jones D, Meyer K, Cole J, Piaggi P, Vasan RS, Clish CB, Murthy VL. Dietary metabolic signatures and cardiometabolic risk. Eur Heart J. 2022 Nov 25. [Epub ahead of print] PubMed PMID: 36424694
• Wang Q, Li H, Tajima K, Verkerke ARP, Taxin ZH, Hou Z, Cole JB, Li F, Wong J, Abe I, Pradhan RN, Yamamuro T, Yoneshiro T, Hirschhorn JN, Kajimura S. Post-translational control of beige fat biogenesis by PRDM16 stabilization. Nature. 2022 Sep;609(7925):151-158. PubMed PMID: 35978186
• Westerman KE, Majarian TD, Giulianini F, Jang DK, Miao J, Florez JC, Chen H, Chasman DI, Udler MS, Manning AK, Cole JB. Variance-quantitative trait loci enable systematic discovery of gene-environment interactions for cardiometabolic serum biomarkers. Nat Commun. 2022 Jul 9;13(1):3993. PubMed PMID: 35810165
• Smyth LJ, Dahlström EH, Syreeni A, Kerr K, Kilner J, Doyle R, Brennan E, Nair V, Fermin D, Nelson RG, Looker HC, Wooster C, Andrews D, Anderson K, McKay GJ, Cole JB, Salem RM, Conlon PJ, Kretzler M, Hirschhorn JN, Sadlier D, Godson C, Florez JC, Forsblom C, Maxwell AP, Groop PH, Sandholm N, McKnight AJ. Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease. Nat Commun. 2022 Dec 22;13(1):7891. PubMed PMID: 36550108
• Leong A, Cole JB, Brenner LN, Meigs JB, Florez JC, Mercader JM. Cardiometabolic risk factors for COVID-19 susceptibility and severity: A Mendelian randomization analysis. PLoS Med. 2021 Mar;18(3):e1003553. PubMed PMID: 33661905
• Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM, Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C, Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. Author Correction: The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2021 Feb;27(2):355. PubMed PMID: 33483629
• Haukka J, Sandholm N, Valo E, Forsblom C, Harjutsalo V, Cole JB, McGurnaghan SJ, Colhoun HM, Groop PH. Novel Linkage Peaks Discovered for Diabetic Nephropathy in Individuals With Type 1 Diabetes. Diabetes. 2021 Apr;70(4):986-995. PubMed PMID: 33414249
• Guindo-Martínez M, Amela R, Bonàs-Guarch S, Puiggròs M, Salvoro C, Miguel-Escalada I, Carey CE, Cole JB, Rüeger S, Atkinson E, Leong A, Sanchez F, Ramon-Cortes C, Ejarque J, Palmer DS, Kurki M, Aragam K, Florez JC, Badia RM, Mercader JM, Torrents D. The impact of non-additive genetic associations on age-related complex diseases. Nat Commun. 2021 Apr 23;12(1):2436. PubMed PMID: 33893285
• Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 Jun 9;12(1):3505. PubMed PMID: 34108472
• Westerman KE, Miao J, Chasman DI, Florez JC, Chen H, Manning AK, Cole JB. Genome-wide gene-diet interaction analysis in the UK Biobank identifies novel effects on hemoglobin A1c. Hum Mol Genet. 2021 Aug 28;30(18):1773-1783. PubMed PMID: 33864366
• Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Genome-wide copy number variations in a large cohort of bantu African children. BMC Med Genomics. 2021 May 17;14(1):129. PubMed PMID: 34001112
• Smyth LJ, Kilner J, Nair V, Liu H, Brennan E, Kerr K, Sandholm N, Cole J, Dahlström E, Syreeni A, Salem RM, Nelson RG, Looker HC, Wooster C, Anderson K, McKay GJ, Kee F, Young I, Andrews D, Forsblom C, Hirschhorn JN, Godson C, Groop PH, Maxwell AP, Susztak K, Kretzler M, Florez JC, McKnight AJ. Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study. Clin Epigenetics. 2021 May 1;13(1):99. PubMed PMID: 33933144
• Topless RKG, Major TJ, Florez JC, Hirschhorn JN, Cadzow M, Dalbeth N, Stamp LK, Wilcox PL, Reynolds RJ, Cole JB, Merriman TR. The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect. Arthritis Res Ther. 2021 Mar 4;23(1):75. PubMed PMID: 33663556
• Brenner LN, Mercader JM, Robertson CC, Cole J, Chen L, Jacobs SBR, Rich SS, Florez JC. Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes. J Endocr Soc. 2020 Nov 1;4(11):bvaa121. PubMed PMID: 33150273
• Cole JB, Florez JC, Hirschhorn JN. Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. Nat Commun. 2020 Mar 19;11(1):1467. PubMed PMID: 32193382
• Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, Cole JB, Wang Q, Karczewski KJ, Cummings BB, Francioli L, Laricchia K, Guan A, Alipanahi B, Morrison P, Baptista MAS, Merchant KM, Ware JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C, Daly M, Esko T, Hultman C, Loos RJF, Milani L, Palotie A, Pato C, Pato M, Saleheen D, Sullivan PF, Alföldi J, Cannon P, MacArthur DG. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 Jun;26(6):869-877. PubMed PMID: 32461697
• Cole JB, Florez JC. Genetics of diabetes mellitus and diabetes complications. Nat Rev Nephrol. 2020 Jul;16(7):377-390. PubMed PMID: 32398868
• Hsu YH, Astley CM, Cole JB, Vedantam S, Mercader JM, Metspalu A, Fischer K, Fortney K, Morgen EK, Gonzalez C, Gonzalez ME, Esko T, Hirschhorn JN. Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome. Int J Obes (Lond). 2020 Jul;44(7):1596-1606. PubMed PMID: 32467615
• Salem RM, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Di Liao C, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan SJ, Haukka JK, Harjutsalo V, Brennan EP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maestroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty AJ, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, Rovite V, Pirags V, Prakapiene E, Radzeviciene L, Verkauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjadj S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun HM, Krolewski A, Paterson AD, Groop PH, Rich SS, Hirschhorn JN, Florez JC. Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. J Am Soc Nephrol. 2019 Oct;30(10):2000-2016. PubMed PMID: 31537649
• Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Cole JB, Chiou J, Boehnke M, Laakso M, Atzmon G, Glaser B, Mercader JM, Gaulton K, Flannick J, Getz G, Florez JC. Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis. PLoS Med. 2018 Sep;15(9):e1002654. PubMed PMID: 30240442
• Cole JB, Manyama MF, Nikitovic D, Gonzalez PN, Liberton DK, Wilson WM, Rolian C, Larson JR, Kimwaga E, Mathayo J, Roseman CC, Santorico SA, Lukowiak K, Spritz RA, Hallgrimsson B. Facial shape manifestations of growth faltering in Tanzanian children. J Anat. 2018 Feb;232(2):250-262. PubMed PMID: 29193055
• Larson JR, Manyama MF, Cole JB, Gonzalez PN, Percival CJ, Liberton DK, Ferrara TM, Riccardi SL, Kimwaga EA, Mathayo J, Spitzmacher JA, Rolian C, Jamniczky HA, Weinberg SM, Roseman CC, Klein O, Lukowiak K, Spritz RA, Hallgrimsson B. Body size and allometric variation in facial shape in children. Am J Phys Anthropol. 2018 Feb;165(2):327-342. PubMed PMID: 29178597
• Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrímsson B, Spritz RA. Human Facial Shape and Size Heritability and Genetic Correlations. Genetics. 2017 Feb;205(2):967-978. PubMed PMID: 27974501
• Cole JB, Spritz RA. The Genetics of Facial Morphology. In: eLS. John Wiley & Sons Ltd, Chichester. 2017 September.
• Li M, Cole JB, Manyama M, Larson JR, Liberton DK, Riccardi SL, Ferrara TM, Santorico SA, Bannister JJ, Forkert ND, Spritz RA, Mio W, Hallgrimsson B. Rapid automated landmarking for morphometric analysis of three-dimensional facial scans. J Anat. 2017 Apr;230(4):607-618. PubMed PMID: 28078731
• Cole JB, Manyama M, Kimwaga E, Mathayo J, Larson JR, Liberton DK, Lukowiak K, Ferrara TM, Riccardi SL, Li M, Mio W, Prochazkova M, Williams T, Li H, Jones KL, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape. PLoS Genet. 2016 Aug;12(8):e1006174. PubMed PMID: 27560698
• Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, Cunningham ML, Hecht JT, Kau CH, Nidey NL, Moreno LM, Wehby GL, Murray JC, Laurie CA, Laurie CC, Cole J, Ferrara T, Santorico S, Klein O, Mio W, Feingold E, Hallgrimsson B, Spritz RA, Marazita ML, Weinberg SM. Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet. 2016 Aug;12(8):e1006149. PubMed PMID: 27560520
• Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet. 2012 May 6;44(6):676-80. PubMed PMID: 22561518