Personal profile

Biography

Caroline is Principal Investigator and co-ordinator of the QTL in Health and Disease research programme. Over the last 10 years she has been responsible for managing many aspects of the collection and analysis of quantitative trait data from isolated and general Croatian populations. More recently this project has expanded to include analyses of further Croatian and Scottish populations. Her main interests are in the genetics of quantitative traits in human populations especially those likely to be involved in clinically significant complex diseases.

Collaborative Activity

IGMM, University of Edinburgh: Prof Andrew Jackson  (MRC Programme Leader), Dr Toby Hurd (Chancellor’s Fellow), Dr Colin Semple  (MRC Programme Leader) Prof Malcolm Dunlop (MRC Programme Leader) Dr Andy Finch (Chancellor’s Fellow), Prof Stuart Ralston.

University of Edinburgh, Edinburgh, UK Dr. Sarah Wild, Prof Brian Walker, Prof David Webb, Prof Andrew McIntosh

University of Glasgow, Royal Infirmary, Glasgow, UK Dr Sandosh Padmanabhan (Institute of Cardiovascular and Medical Sciences)

University of Dundee, Dundee, UK Professor Andrew Morris, Dr. Prof Colin Palmer, Prof Blair Smith (School of Medicine)

University of Split, Croatia Dr. Ozren Polasek and Dr. Ivana Kolcic  (Public Health Sciences)

University of Zagreb, Croatia Prof Gordan Lauc

Institute for Anthropological Research, Zagreb, Croatia, Dr. Branca Janicijevic, Dr. Nina Smolej-Narancic

University of Zurich, Prof Olivier Devuyst

University of Leicester, Prof Martin Tobin

University of Lausanne, Swiss Institute of Bioinformatics, Dr Zoltan Kutalik, Dr Murielle Bouchaud

CCACE (Centre for Cognitive Ageing and Cognitive Epidemiology)

CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology)

CROATIA Cohorts

Generation Scotland

The Viking Health Study

My research in a nutshell

Our main approach is to decipher the genetic basis of natural variation in
quantitative traits (QTs) associated with diseases and conditions, as QTs
are more amenable to analysis than the disease as a whole. We study
cross-sectional cohorts of diverse populations recruited from Croatia and
Scotland, in which a range of traits were collected from medical
examinations, questionnaires and biochemical assays.  Plasma, serum and
urine have been stored from each cohort participant, allowing additional
lab-based measures to be derived, and new hypotheses to be tested. Our main
analysis tool, single trait, single marker genome-wide association study
(GWAS), has resulted in the successful association of many common genetic
variants, of relevance to a wide range of complex diseases.  This work now
mostly takes place within large consortia, pulling together resources
nationally and internationally. Our core research continues to revolve
around this approach, with numerous traits measured (including glycomics) or
planned (e.g.  proteomics) in thousands or tens of thousands of
participants. Although the contribution of the associated genetic variants
into variation of the studied trait is generally small, the findings can
illuminate or highlight novel biological pathways and function.

The main focus is:

Kidney related traits as a leader of ECUT, the European Consortium of Urinary Traits,, and a participating member of CKDGen, the Chronic kidney Disease Genetic consortium.

Coordination and contribution to genetic analyses in many international and UK consortia including CHARGE, SPIROMETA, GIANT and ICBP.

Education/Academic qualification

Doctor of Philosophy (PhD), University of Edinburgh

Award Date: 1 Jan 1987

Bachelor of Arts, University of Stirling

Award Date: 1 Jan 1975

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Collaborations and top research areas from the last five years

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  • Understanding the genetic complexity of puberty timing across the allele frequency spectrum

    Kentistou, K. A., Kaisinger, L. R., Stankovic, S., Vaudel, M., Mendes de oliveira, E., Messina, A., Walters, R. G., Liu, X., Busch, A. S., Helgason, H., Thompson, D. J., Santoni, F., Petricek, K. M., Zouaghi, Y., Huang-Doran, I., Gudbjartsson, D. F., Bratland, E., Lin, K., Gardner, E. J., Zhao, Y., & 203 othersJia, R. Y., Terao, C., Riggan, M. J., Bolla, M. K., Yazdanpanah, M., Yazdanpanah, N., Bradfield, J. P., Broer, L., Campbell, A., Chasman, D. I., Cousminer, D. L., Franceschini, N., Franke, L. H., Girotto, G., He, C., Järvelin, M-R., Joshi, P. K., Kamatani, Y., Karlsson, R., Luan, J., Lunetta, K. L., Mägi, R., Mangino, M., Medland, S. E., Meisinger, C., Noordam, R., Nutile, T., Concas, M. P., Polašek, O., Porcu, E., Ring, S. M., Sala, C., Smith, A. V., Tanaka, T., Van der most, P. J., Vitart, V., Wang, C. A., Willemsen, G., Zygmunt, M., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Auer, P. L., Barnes, C. L. K., Beckmann, M. W., Berrington de gonzalez, A., Bogdanova, N. V., Bojesen, S. E., Brenner, H., Buring, J. E., Canzian, F., Chang-Claude, J., Couch, F. J., Cox, A., Crisponi, L., Czene, K., Daly, M. B., Demerath, E. W., Dennis, J., Devilee, P., De vivo, I., Dörk, T., Dunning, A. M., Dwek, M., Eriksson, J. G., Fasching, P. A., Fernandez-Rhodes, L., Ferreli, L., Fletcher, O., Gago-Dominguez, M., García-Closas, M., García-Sáenz, J. A., González-Neira, A., Grallert, H., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hakonarson, H., Hart, R. J., Hickey, M., Hooning, M. J., Hoppe, R., Hopper, J. L., Hottenga, J-J., Hu, F. B., Huebner, H., Hunter, D. J., Jernström, H., John, E. M., Karasik, D., Khusnutdinova, E. K., Kristensen, V. N., Lacey, J. V., Lambrechts, D., Launer, L. J., Lind, P. A., Lindblom, A., Magnusson, P. K. E., Mannermaa, A., Mccarthy, M. I., Meitinger, T., Menni, C., Michailidou, K., Millwood, I. Y., Milne, R. L., Montgomery, G. W., Nevanlinna, H., Nolte, I. M., Nyholt, D. R., Obi, N., O’brien, K. M., Offit, K., Oldehinkel, A. J., Ostrowski, S. R., Palotie, A., Pedersen, O. B., Peters, A., Pianigiani, G., Plaseska-Karanfilska, D., Pouta, A., Pozarickij, A., Radice, P., Rennert, G., Rosendaal, F. R., Ruggiero, D., Saloustros, E., Sandler, D. P., Schipf, S., Schmidt, C. O., Schmidt, M. K., Small, K., Spedicati, B., Stampfer, M., Stone, J., Tamimi, R. M., Teras, L. R., Tikkanen, E., Turman, C., Vachon, C. M., Wang, Q., Winqvist, R., Wolk, A., Zemel, B. S., Zheng, W., Van dijk, K. W., Alizadeh, B. Z., Bandinelli, S., Boerwinkle, E., Boomsma, D. I., Ciullo, M., Chenevix-Trench, G., Cucca, F., Esko, T., Gieger, C., Grant, S. F. A., Gudnason, V., Hayward, C., Kolčić, I., Kraft, P., Lawlor, D. A., Martin, N. G., Nøhr, E. A., Pedersen, N. L., Pennell, C. E., Ridker, P. M., Robino, A., Snieder, H., Sovio, U., Spector, T. D., Stöckl, D., Sudlow, C., Timpson, N. J., Toniolo, D., Uitterlinden, A., Ulivi, S., Völzke, H., Wareham, N. J., Widen, E., Wilson, J. F., John, E. M., Hall, P., Winqvis, R., Pharoah, P. D. P., Li, L., Easton, D. F., Njølstad, P. R., Sulem, P., Murabito, J. M., Murray, A., Manousaki, D., Juul, A., Erikstrup, C., Stefansson, K., Horikoshi, M., Chen, Z., Farooqi, I. S., Pitteloud, N., Johansson, S., Day, F. R., Perry, J. R. B. & Ong, K. K., 1 Jul 2024, In: Nature Genetics.

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  • A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk

    Estonian Biobank Research Team, FinnGen, Lippert, C., van Heel, D., Okada, Y., McCartney, D. L., Hayward, C., Marioni, R. E., Furini, S., Renieri, A., Martin, A. R., Neale, B. M., Hveem, K., Mägi, R., Palotie, A., Heyne, H., Mars, N., Ganna, A. & Ripatti, S., 12 Jun 2024, In: Nature Communications.

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  • Generation Scotland: an update on Scotland’s longitudinal family health study

    Milbourn, H., Mccartney, D., Richmond, A., Campbell, A., Flaig, R., Robertson, S., Fawns-Ritchie, C., Hayward, C., Marioni, R. E., Mcintosh, A. M., Porteous, D. J., Whalley, H. C. & Sudlow, C., 1 Jun 2024, (E-pub ahead of print) In: BMJ Open. 14, 6, p. e084719

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  • Blood-based epigenome-wide analyses of chronic low-grade inflammation across diverse population cohorts

    Hillary, R. F., Ng, H. K., McCartney, D. L., Elliott, H. R., Walker, R. M., Campbell, A., Huang, F., Direk, K., Welsh, P., Sattar, N., Corley, J., Hayward, C., McIntosh, A. M., Sudlow, C., Evans, K. L., Cox, S. R., Chambers, J. C., Loh, M., Relton, C. L., Marioni, R. E., & 2 othersYousefi, P. D. & Suderman, M., 8 May 2024, In: Cell Genomics. 4, 5, 100544.

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  • Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

    Chen, Z., Guo, X., Tao, R., Huyghe, J. R., Law, P. J., Fernandez-Rozadilla, C., Ping, J., Jia, G., Long, J., Li, C., Shen, Q., Xie, Y., Timofeeva, M. N., Thomas, M., Schmit, S. L., Díez-Obrero, V., Devall, M., Moratalla-Navarro, F., Fernandez-Tajes, J., Palles, C., & 185 othersSherwood, K., Briggs, S. E. W., Svinti, V., Donnelly, K., Farrington, S. M., Blackmur, J., Vaughan-Shaw, P. G., Shu, X-O., Lu, Y., Broderick, P., Studd, J., Harrison, T. A., Conti, D. V., Schumacher, F. R., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S-S., Shin, M-H., Shin, A., Ahn, Y-O., Kim, D-H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y-T., Jia, W-H., Hopper, J. L., Jenkins, M. A., Win, A. K., Pai, R. K., Figueiredo, J. C., Haile, R. W., Gallinger, S., Woods, M. O., Newcomb, P. A., Duggan, D., Cheadle, J. P., Kaplan, R., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, J-P., Jousilahti, P., Knekt, P., Aaltonen, L. A., Rissanen, H., Pukkala, E., Eriksson, J. G., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Männistö, S., Albanes, D., Weinstein, S. J., Ruiz-Narvaez, E., Palmer, J. R., Buchanan, D. D., Platz, E. A., Visvanathan, K., Ulrich, C. M., Siegel, E., Brezina, S., Gsur, A., Campbell, P. T., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M. L., Potter, J. D., Tsilidis, K. K., Schulze, M. B., Gunter, M. J., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Bishop, D. T., Giles, G. G., Southey, M. C., Idos, G. E., Mcdonnell, K. J., Abu-Ful, Z., Greenson, J. K., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y-R., Steinfelder, R., Keku, T. O., Van guelpen, B., Hudson, T. J., Hampel, H., Pearlman, R., Berndt, S. I., Hayes, R. B., Martinez, M. E., Thomas, S. S., Pharoah, P. D. P., Larsson, S. C., Yen, Y., Lenz, H-J., White, E., Li, L., Doheny, K. F., Pugh, E., Shelford, T., Chan, A. T., Cruz-Correa, M., Lindblom, A., Hunter, D. J., Joshi, A. D., Schafmayer, C., Scacheri, P. C., Kundaje, A., Schoen, R. E., Hampe, J., Stadler, Z. K., Vodicka, P., Vodickova, L., Vymetalkova, V., Edlund, C. K., Gauderman, W. J., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S. J., Van duijnhoven, F., Feskens, E. J. M., Sakoda, L. C., Gago-Dominguez, M., Wolk, A., Pardini, B., Fitzgerald, L. M., Lee, S. C., Ogino, S., Bien, S. A., Kooperberg, C., Li, C. I., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Yamaji, T., Sawada, N., Iwasaki, M., Le marchand, L., Wu, A. H., Qu, C., Mcneil, C. E., Coetzee, G., Hayward, C., Deary, I. J., Harris, S. E., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Lau, K. S., Zhao, H., Hsu, L., Cai, Q., Dunlop, M. G., Gruber, S. B., Houlston, R. S., Moreno, V., Casey, G., Peters, U., Tomlinson, I. & Zheng, W., 26 Apr 2024, In: Nature Communications. 15, 1, 3557.

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