PNAS 2019

Kapoor A, Lee D, Zhu L, Soliman EZ, Grove ML, Boerwinkle E, Arking DE, Chakravarti A. Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval. Proceedings of the National Academy of Sciences. 2019 May 8:201808734. PMID: 31068470

NEJM 2019

Tilghman JM, Ling AY, Turner TN, Sosa MX, Krumm N, Chatterjee S, Kapoor A, Coe BP, Nguyen KD, Gupta N, Gabriel S. Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease. New England Journal of Medicine. 2019 Apr 11;380(15):1421-32. PMID: 30970187

Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.

He, K., Li, X., Kelly, T., Liang, J., Cade, B., Assimes, T., Becker, L., Beitelshees, A., Bress, A., Chang, Y., Chen, Y., de Vries, P., Fox, E., Franceschini, N., Furniss, A., Gao, Y., Guo, X., Haessler, J., Hwang, S., Irvin, M., Kalyani, R., Liu, C., Liu, C., Martin, L., Montasser, M., Muntner, P., Mwasongwe, S., Palmas, W., Reiner, A., Shimbo, D., Smith, J., Snively, B., Yanek, L., Boerwinkle, E., Correa, A., Cupples, L., He, J., Kardia, S., Kooperberg, C., Mathias, R., Mitchell, B., Psaty, B., Vasan, R., Rao, D., Rich, S., Rotter, J., Wilson, J., Chakravarti, A., Morrison, A., Levy, D., Arnett, D., Redline, S., & Zhu, X. (2019). Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.. Human genetics, (). PMID:30671673

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Evangelou, E., Warren, H. R., Mosen-Ansorena, D., Mifsud, B., Pazoki, R., Gao, H., Ntritsos, G., Dimou, N., Cabrera, C. P., Karaman, I., Ng, F. L., Evangelou, M., Witkowska, K., Tzanis, E., Hellwege, J. N., Giri, A., Velez Edwards, D. R., Sun, Y. V., Cho, K., Gaziano, J. M., Wilson, P., Tsao, P. S., Kovesdy, C. P., Esko, T., Mägi, R., Milani, L., Almgren, P., Boutin, T., Debette, S., Ding, J., Giulianini, F., Holliday, E. G., Jackson, A. U., Li-Gao, R., Lin, W. Y., Luan, J., Mangino, M., Oldmeadow, C., Prins, B. P., Qian, Y., Sargurupremraj, M., Shah, N., Surendran, P., Thériault, S., Verweij, N., Willems, S. M., Zhao, J. H., Amouyel, P., Connell, J., de Mutsert, R., Doney, A., Farrall, M., Menni, C., Morris, A. D., Noordam, R., Paré, G., Poulter, N. R., Shields, D. C., Stanton, A., Thom, S., Abecasis, G., Amin, N., Arking, D. E., Ayers, K. L., Barbieri, C. M., Batini, C., Bis, J. C., Blake, T., Bochud, M., Boehnke, M., Boerwinkle, E., Boomsma, D. I., Bottinger, E. P., Braund, P. S., Brumat, M., Campbell, A., Campbell, H., Chakravarti, A., Chambers, J. C., Chauhan, G., Ciullo, M., Cocca, M., Collins, F., Cordell, H. J., Davies, G., de Borst, M. H., de Geus, E. J., Deary, I. J., Deelen, J., Del Greco M, F., Demirkale, C. Y., Dörr, M., Ehret, G. B., Elosua, R., Enroth, S., Erzurumluoglu, A. M., Ferreira, T., Frånberg, M., Franco, O. H., Gandin, I., Gasparini, P., Giedraitis, V., Gieger, C., Girotto, G., Goel, A., Gow, A. J., Gudnason, V., Guo, X., Gyllensten, U., Hamsten, A., Harris, T. B., Harris, S. E., Hartman, C. A., Havulinna, A. S., Hicks, A. A., Hofer, E., Hofman, A., Hottenga, J. J., Huffman, J. E., Hwang, S. J., Ingelsson, E., James, A., Jansen, R., Jarvelin, M. R., Joehanes, R., Johansson, Å., Johnson, A. D., Joshi, P. K., Jousilahti, P., Jukema, J. W., Jula, A., Kähönen, M., Kathiresan, S., Keavney, B. D., Khaw, K. T., Knekt, P., Knight, J., Kolcic, I., Kooner, J. S., Koskinen, S., Kristiansson, K., Kutalik, Z., Laan, M., Larson, M., Launer, L. J., Lehne, B., Lehtimäki, T., Liewald, D., Lin, L., Lind, L., Lindgren, C. M., Liu, Y., Loos, R., Lopez, L. M., Lu, Y., Lyytikäinen, L. P., Mahajan, A., Mamasoula, C., Marrugat, J., Marten, J., Milaneschi, Y., Morgan, A., Morris, A. P., Morrison, A. C., Munson, P. J., Nalls, M. A., Nandakumar, P., Nelson, C. P., Niiranen, T., Nolte, I. M., Nutile, T., Oldehinkel, A. J., Oostra, B. A., O’Reilly, P. F., Org, E., Padmanabhan, S., Palmas, W., Palotie, A., Pattie, A., Penninx, B., Perola, M., Peters, A., Polasek, O., Pramstaller, P. P., Nguyen, Q. T., Raitakari, O. T., Ren, M., Rettig, R., Rice, K., Ridker, P. M., Ried, J. S., Riese, H., Ripatti, S., Robino, A., Rose, L. M., Rotter, J. I., Rudan, I., Ruggiero, D., Saba, Y., Sala, C. F., Salomaa, V., Samani, N. J., Sarin, A. P., Schmidt, R., Schmidt, H., Shrine, N., Siscovick, D., Smith, A. V., Snieder, H., Sõber, S., Sorice, R., Starr, J. M., Stott, D. J., Strachan, D. P., Strawbridge, R. J., Sundström, J., Swertz, M. A., Taylor, K. D., Teumer, A., Tobin, M. D., Tomaszewski, M., Toniolo, D., Traglia, M., Trompet, S., Tuomilehto, J., Tzourio, C., Uitterlinden, A. G., Vaez, A., van der Most, P. J., van Duijn, C. M., Vergnaud, A. C., Verwoert, G. C., Vitart, V., Völker, U., Vollenweider, P., Vuckovic, D., Watkins, H., Wild, S. H., Willemsen, G., Wilson, J. F., Wright, A. F., Yao, J., Zemunik, T., Zhang, W., Attia, J. R., Butterworth, A. S., Chasman, D. I., Conen, D., Cucca, F., Danesh, J., Hayward, C., Howson, J., Laakso, M., Lakatta, E. G., Langenberg, C., Melander, O., Mook-Kanamori, D. O., Palmer, C., Risch, L., Scott, R. A., Scott, R. J., Sever, P., Spector, T. D., van der Harst, P., Wareham, N. J., Zeggini, E., Levy, D., Munroe, P. B., Newton-Cheh, C., Brown, M. J., Metspalu, A., Hung, A. M., O’Donnell, C. J., Edwards, T. L., Psaty, B. M., Tzoulaki, I., Barnes, M. R., Wain, L. V., Elliott, P., Caulfield, M. J., Million Veteran Program (2018). Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nature genetics, 50(10), 1412-1425. PMID:30224653

Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants.

Lee D, Kapoor A, Safi A, Song L, Halushka MK, Crawford GE, Chakravarti A. Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants. Genome Res. 2018 PMID:30139769

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B. Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus. Eur J Hum Genet. 2018 PMID: 29379196

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

Sung YJ, Winkler TW, de Las Fuentes L, Bentley AR, Brown MR, Kraja AT, Schwander K, Ntalla I, Guo X, Franceschini N, Lu Y, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Feitosa MF, Kilpeläinen TO, Richard MA, Noordam R, Aslibekyan S, Aschard H, Bartz TM, Dorajoo R, Liu Y, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Tayo BO, Warren HR, Zhao W, Zhou Y, Matoba N, Sofer T, Alver M, Amini M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Giulianini F, Goel A, Harris SE, Hartwig FP, Horimoto ARVR, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Kühnel B, Leander K, Lee WJ, Lin KH, ‘an Luan J, McKenzie CA, Meian H, Nelson CP, Rauramaa R, Schupf N, Scott RA, Sheu WHH, Stančáková A, Takeuchi F, van der Most PJ, Varga TV, Wang H, Wang Y, Ware EB, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Alfred T, Amin N, Arking D, Aung T, Barr RG, Bielak LF, Boerwinkle E, Bottinger EP, Braund PS, Brody JA, Broeckel U, Cabrera CP, Cade B, Caizheng Y, Campbell A, Canouil M, Chakravarti A; CHARGE Neurology Working Group, Chauhan G, Christensen K, Cocca M; COGENT-Kidney Consortium, Collins FS, Connell JM, de Mutsert R, de Silva HJ, Debette S, Dörr M, Duan Q, Eaton CB, Ehret G, Evangelou E, Faul JD, Fisher VA, Forouhi NG, Franco OH, Friedlander Y, Gao H; GIANT Consortium, Gigante B, Graff M, Gu CC, Gu D, Gupta P, Hagenaars SP, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Hofman A, Howard BV, Hunt S, Irvin MR, Jia Y, Joehanes R, Justice AE, Katsuya T, Kaufman J, Kerrison ND, Khor CC, Koh WP, Koistinen HA, Komulainen P, Kooperberg C, Krieger JE, Kubo M, Kuusisto J, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y; Lifelines Cohort Study, Lim SH, Lin S, Liu CT, Liu J, Liu J, Liu K, Liu Y, Loh M, Lohman KK, Long J, Louie T, Mägi R, Mahajan A, Meitinger T, Metspalu A, Milani L, Momozawa Y, Morris AP, Mosley TH Jr., Munson P, Murray AD, Nalls MA, Nasri U, Norris JM, North K, Ogunniyi A, Padmanabhan S, Palmas WR, Palmer ND, Pankow JS, Pedersen NL, Peters A, Peyser PA, Polasek O, Raitakari OT, Renström F, Rice TK, Ridker PM, Robino A, Robinson JG, Rose LM, Rudan I, Sabanayagam C, Salako BL, Sandow K, Schmidt CO, Schreiner PJ, Scott WR, Seshadri S, Sever P, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Tang H, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Wilson G, Wojczynski MK, Yao J, Yuan JM, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Chen YI, de Faire U, Deary IJ, Esko T, Farrall M, Forrester T, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Hung YJ, Jonas JB, Kato N, Kooner JS, Laakso M, Lehtimäki T, Liang KW, Magnusson PKE, Newman AB, Oldehinkel AJ, Pereira AC, Redline S, Rettig R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Kamatani Y, Laurie CC, Bouchard C, Cooper RS, Evans MK, Gudnason V, Kardia SLR, Kritchevsky SB, Levy D, O’Connell JR, Psaty BM, van Dam RM, Sims M, Arnett DK, Mook-Kanamori DO, Kelly TN, Fox ER, Hayward C, Fornage M, Rotimi CN, Province MA, van Duijn CM, Tai ES, Wong TY, Loos RJF, Reiner AP, Rotter JI, Zhu X, Bierut LJ, Gauderman WJ, Caulfield MJ, Elliott P, Rice K, Munroe PB, Morrison AC, Cupples LA, Rao DC, Chasman DI. A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. Am J Hum Genet. 2018 PMID: 29455858.

Response to Brosens et al.

Jiang Q, Chen X, Zhang F, Chakravarti A, Li L. Response to Brosens et al. Genet Med. 2018 PMID: 29493585.

Cardiomyocytes have mosaic patterns of protein expression.

Wang TY, Lee D, Fox-Talbot K, Arking DE, Chakravarti A, Halushka MK. Cardiomyocytes have mosaic patterns of protein expression. Cardiovasc Pathol. 2018;34:50-57. PMID: 29677652

Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies.

Smith JA, Zhao W, Yasutake K, August C, Ratliff SM, Faul JD, Boerwinkle E, Chakravarti A, Diez Roux AV, Gao Y, Griswold ME, Heiss G, Kardia SLR, Morrison AC, Musani SK, Mwasongwe S, North KE, Rose KM, Sims M, Sun YV, Weir DR, Needham BL. Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies. Int J Environ Res Public Health. 2017 PMID: 29258278