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Personal profile

Research Interests

My major research interest is in determining the genetic and epigenetic contribution to non-pathological age-related cognitive decline. I am interested in determining the type, number and specific genetic variants and proteins involved. I am also investigating genetic and epigenetic influences on the life-long trait of cognitive ability and personality traits and the influence of telomere length change, gene expression levels, protein levels and metabolites on cognitive and physical ageing. These studies are being performed using genomic, epigenomic, transcriptomic, proteomic, metabolomic, cognitive, physical and personality data from surviving members of the Scottish Mental Surveys of 1932 and 1947, on whom there are mental ability scores available at the age of 11 years, and extensive, cognitive, personality, physical, social and biochemical data available from later life. I am also involved with several national and international collaborations, giving me access to data from numerous other cohorts with similar data including CHARGE and UK Biobank. My main skills are in the identification of genes and biological pathways based on experimental biology and bioinformatics, genotyping methodologies, and omic-phenotype statistical modelling, using software such as R, SPSS, PLINK and Mach2qtl.

Teaching

MSc in Quantitative Genetics and Genome Analysis

 

Qualifications

1999 PhD (Expression and functional analysis of DMAHP/SIX5) University of Glasgow.

1994  BSc (Hons) Biological Sciences (Genetics) IIi, University of Leicester.

Administrative Roles

I am responsible for maintaining the genetic information in the Lothian Birth Cohort of 1921 and the Lothian Birth Cohort of 1936 databases. I coordinate genetic studies within the Lothian Birth Cohorts group. I am responsible for all biological samples relating to the Lothian Birth Cohorts of 1921 and 1936.

Education/Academic qualification

Doctor of Philosophy (PhD), Expression and functional analysis of DMAHP/SIX5, University of Glasgow

Award Date: 1 Jan 1999

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Collaborations and top research areas from the last five years

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  • Epigenome-wide association study reveals CpG sites associated with thyroid function and regulatory effects on KLF9

    Weihs, A., Chaker, L., Martin, T. C., Braun, K. V. E., Campbell, P. J., Cox, S. R., Fornage, M., Gieger, C., Grabe, H. J., Grallert, H., Harris, S., Kuhnel, B., Marioni, R. E., Martin, N., McCartney, D. L., Mcrae, A. F., Meisinger, C., van Meurs, J. B. J., Nano, J., Nauck, M., & 21 othersPeters, A., Prokisch, H., Roden, M., Selvin, E., Beekman, M., van Heemst, D., Slagboom, P. E., Swenson, B. R., Tin, A., Tsai, P-C., Uitterlinden, A. G., Visser, W. E., Völzke, H., Waldenberger, M., Walsh, J. P., Köttgen, A., Wilson, S. G., Peeters, R. P., Bell, J. T., Medici, M. & Teumer, A., 16 Mar 2023, In: Thyroid Journal Program. 33, 3, p. 301–311

    Research output: Contribution to journalArticlepeer-review

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  • Refining epigenetic prediction of chronological and biological age

    Bernabeu, E., McCartney, D. L., Gadd, D., Hillary, R., Lu, A. T., Murphy, L., Wrobel, N., Campbell, A., Harris, S. E., Liewald, D. C., Hayward, C., Sudlow, C. L. M., Cox, S. R., Evans, K. L., Horvath, S., McIntosh, A. M., Robinson, M. R., Vallejos, C. A. & Marioni, R. E., 28 Feb 2023, In: Genome Medicine. 15, 1, 12.

    Research output: Contribution to journalArticlepeer-review

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  • DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood

    Hahn, J., Bressler, J., Domingo-Relloso, A., Chen, M., Mccartney, D. L., Teumer, A., Van dongen, J., Kleber, M. E., Aïssi, D., Swenson, B. R., Yao, J., Zhao, W., Huang, J., Xia, Y., Brown, M. R., Costeira, R., De geus, E. J. C., Delgado, G. E., Dobson, D. A., Elliott, P., & 38 othersGrabe, H. J., Guo, X., Harris, S. E., Huffman, J. E., Kardia, S. L. R., Liu, Y., Lorkowski, S., Marioni, R. E., Nauck, M., Ratliff, S. M., Sabater-Lleal, M., Spector, T. D., Suchon, P., Taylor, K. D., Thibord, F., Trégouët, D., Wiggins, K. L., Willemsen, G., Bell, J. T., Boomsma, D. I., Cole, S. A., Cox, S. R., Dehghan, A., Greinacher, A., Haack, K., März, W., Morange, P., Rotter, J. I., Sotoodehnia, N., Tellez-Plaza, M., Navas-Acien, A., Smith, J. A., Johnson, A. D., Fornage, M., Smith, N. L., Wolberg, A. S., Morrison, A. C. & De vries, P. S., 28 Jan 2023, (E-pub ahead of print) In: Journal of Thrombosis and Haemostasis.

    Research output: Contribution to journalArticlepeer-review

  • Synaptic resilience is associated with maintained cognition during ageing

    King, D., Holt, K., Toombs, J., He, X., Dando, O., Okely, J., Rose, J., Gunn, C., Correia, A., Montero, C., Tulloch, J., Lamont, D., Taylor, A., Harris, S., Redmond, P., Cox, S. R., Henstridge, C., Deary, I. J., Smith, C. & Spires-Jones, T., 22 Dec 2022, (E-pub ahead of print) In: Alzheimer's & Dementia: The Journal of the Alzheimer's Association.

    Research output: Contribution to journalArticlepeer-review

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  • Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

    Fernandez-rozadilla, C., Timofeeva, M., Chen, Z., Law, P., Thomas, M., Schmit, S., Díez-obrero, V., Hsu, L., Fernandez-tajes, J., Palles, C., Sherwood, K., Briggs, S., Svinti, V., Donnelly, K., Farrington, S., Blackmur, J., Vaughan-shaw, P., Shu, X., Long, J., Cai, Q., & 190 othersGuo, X., Lu, Y., Broderick, P., Studd, J., Huyghe, J., Harrison, T., Conti, D., Dampier, C., Devall, M., Schumacher, F., Melas, M., Rennert, G., Obón-santacana, M., Martín-sánchez, V., Moratalla-navarro, F., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S., Shin, M., Shin, A., Ahn, Y., Kim, D., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y., Jia, W., Hopper, J., Jenkins, M., Win, A. K., Pai, R., Figueiredo, J., Haile, R., Gallinger, S., Woods, M., Newcomb, P., Duggan, D., Cheadle, J., Kaplan, R., Maughan, T., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, L., Jousilahti, P., Knekt, P., Aaltonen, L., Rissanen, H., Pukkala, E., Eriksson, J., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-sinisalo, L., Zanke, B., Männistö, S., Albanes, D., Weinstein, S., Ruiz-narvaez, E., Palmer, J., Buchanan, D., Platz, E., Visvanathan, K., Ulrich, C., Siegel, E., Brezina, S., Gsur, A., Campbell, P., Chang-claude, J., Hoffmeister, M., Brenner, H., Slattery, M., Potter, J., Tsilidis, K., Schulze, M., Gunter, M., Murphy, N., Castells, A., Castellví-bel, S., Moreira, L., Arndt, V., Shcherbina, A., Stern, M., Pardamean, B., Bishop, T., Giles, G., Southey, M., Idos, G., Mcdonnell, K., Abu-ful, Z., Greenson, J., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y., Steinfelder, R., Keku, T., Van Guelpen, B., Hudson, T., Hampel, H., Pearlman, R., Berndt, S., Hayes, R., Martinez, M. E., Thomas, S., Corley, D., Pharoah, P., Larsson, S., Yen, Y., Lenz, H., White, E., Li, L., Doheny, K., Pugh, E., Shelford, T., Chan, A., Cruz-correa, M., Lindblom, A., Hunter, D., Joshi, A., Schafmayer, C., Scacheri, P., Kundaje, A., Nickerson, D., Schoen, R., Hampe, J., Stadler, Z., Vodicka, P., Vodickova, L., Vymetalkova, V., Papadopoulos, N., Edlund, C., Gauderman, W., Thomas, D., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S., Van Duijnhoven, F., Feskens, E., Sakoda, L., Gago-dominguez, M., Wolk, A., Naccarati, A., Pardini, B., Fitzgerald, L., Lee, S. C., Ogino, S., Bien, S., Kooperberg, C., Li, C., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Tangen, C., Mardis, E., Yamaji, T., Sawada, N., Iwasaki, M., Haiman, C., Le Marchand, L., Wu, A., Qu, C., Mcneil, C., Coetzee, G., Hayward, C., Deary, I., Harris, S., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Moreno, V., Casey, G., Gruber, S., Tomlinson, I., Zheng, W., Dunlop, M., Houlston, R. & Peters, U., 20 Dec 2022, (E-pub ahead of print) In: Nature Genetics.

    Research output: Contribution to journalArticlepeer-review

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