SIMPSON, CLAIRE L.

Genetics, Genomics and Informatics (primary)
Ophthalmology (secondary)

Office: 417 TRANSLATIONAL RESEARCH BUILDING
71 SOUTH MANASSAS
MEMPHIS TN 38163
Tel: (901) 448-3084
csimps17@uthsc.edu

Education

  • Ph.D., Institute of Psychiatry, King's College London, London, UK, Neurogenetics
  • B.S., University of Northumbria at Newcastle, Newcastle upon Tyne, UK, Biomedical Sciences

My Current CV

Research Description

Autism Spectrum Disorder

Autism spectrum disorder is an umbrella of developmental disorders typically diagnosed in young children under 3. Normal development of social and communication skills is impaired. Affected children can display a range of symptoms including communication problems, social interaction difficulties; have abnormal responses to sensory information and a collection of behavioral problems including tantrums, perseveration and aggressiveness. I am interested in gene-environment interactions in ASD, as well as understanding the genetic factors that influence specific subphenotypes.

Myopia and Refractive Error

Refractive errors are one of the most common causes of preventable blindness worldwide, and are caused by a combination of environmental and genetic factors that are poorly understood. The more extreme end of the trait distribution also carries additional risk of complications such as retinal detachment and an increased risk of glaucoma. I am interested in the dissection of the genetic factors that contribute to the risk of developing refractive errors as well as factors that make more severe myopia more likely.

Inflammatory Bowel Disease

Inflammatory bowel disease is a common dysfunction of the gastro-intestinal tract that is divided into two subphenotypes - Crohn''s Disease and Ulcerative Collitis. These two disease have many similar features, but differ in the location where they manifest and although they share some genetic risk factors, others are specific to each disease. I am interested in the genetic factors that influence risk of developing IBD as well as interactions with the microbiome in these diseases.

Methodological Studies

My methodological interests are in the use of linkage analysis in next-generation sequencing studies and new methods to study gene-environment interactions.

 

 

Research Keywords

complex genetics

statistical genetics

genetic epidemiology

bioinformatics

autism spectrum disorder

neurodevelopment

inflammatory bowel disease

myopia

refractive error

age-related macular degeneration

Research Interest/Specialty

The focus of my research interests is the application of genetic and genomic methods to study the genetics of complex neurological traits - diseases and quantitative phenotypes that are influenced by multiple genetic and non-genetic factors. I am also interested in the development of improved methods for deciphering the genetics of complex diseases and traits, using population genetic and computational approaches. I am particularly interested in eye disease, autism spectrum disorder and other neurodevelopmental traits and inflammatory bowel disease.

Publications

  1. Liu, Y, Kheradmand, F, Davis, CF, Scheurer, ME, Wheeler, D, Tsavachidis, S, Armstrong, G, Simpson, C, Mandal, D, Kupert, E, Anderson, M, You, M, Xiong, D, Pikielny, C, Schwartz, AG, Bailey-Wilson, J, Gaba, C, De Andrade, M, Yang, P, Pinney, SM, , , Amos, CI, Spitz, MR. Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. J Thorac Oncol, 11 (1), 52-61, 2016.
  2. Morrison, MA, Magalhaes, TR, Ramke, J, Smith, SE, Ennis, S, Simpson, CL, Portas, L, Murgia, F, Ahn, J, Dardenne, C, Mayne, K, Robinson, R, Morgan, DJ, Brian, G, Lee, L, Woo, SJ, Zacharaki, F, Tsironi, EE, Miller, JW, Kim, IK, Park, KH, Bailey-Wilson, JE, Farrer, LA, Stambolian, D, DeAngelis, MM. Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world. Front Genet, 6, 238, 2015.
  3. Cross, JL, Iben, J, Simpson, CL, Thurm, A, Swedo, S, Tierney, E, Bailey-Wilson, JE, Biesecker, LG, Porter, FD, Wassif, CA. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. Clin Genet, 87 (6), 570-5, 2015.
  4. Xiong, D, Wang, Y, Kupert, E, Simpson, C, Pinney, SM, Gaba, CR, Mandal, D, Schwartz, AG, Yang, P, de Andrade, M, Pikielny, C, Byun, J, Li, Y, Stambolian, D, Spitz, MR, Liu, Y, Amos, CI, Bailey-Wilson, JE, Anderson, M, You, M. A recurrent mutation in PARK2 is associated with familial lung cancer. Am J Hum Genet, 96 (2), 301-8, 2015.
  5. Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.. Hum Genet, 2 (134), 131-46, 2015.
  6. Huang C, Haritunians T, Okou DT, Cutler DJ, Zwick ME, Taylor KD, Datta LW, Maranville JC, Liu Z, Ellis S, Chopra P, Alexander JS, Baldassano RN, Cross RK, Kwon JH, Lazarev M, Mannon P, Moulton DE, Osuntokun BO, Patel A, Rioux JD, Rotter JI, Saeed S, Scherl EJ, Silverberg MS, Silverman A, Targan SR, Valentine J, Wang M-H, Simpson CL, Bridges SL, Kimberly RP, Rich SS, Cho JH, Rienzo AD, Kao LWH, McGovern DPB, Brant SR, Kugathasan S.. Characterization of Genetic Loci That Affect Susceptibility to Inflammatory Bowel Diseases in African Americans.. Gastroenterology, 6 (149), 1575-86, 2015.
  7. Szymczak, S, Simpson, CL, Cropp, CD, Bailey-Wilson, JE. False-positive rates in two-point parametric linkage analysis. BMC Proc, 8 (Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo), S110, 2014.
  8. Simpson CL, Goldenberg AJ, Culverhouse R, Daley D, Igo Jr RP, Jarvik, GP, Mandal DM, Mascalzoni D, Montgomery CG, Pierce B, Plaetke R, Shete S, Goddard KAB, Stein CM.. Practical barriers and ethical challenges in genetic data sharing.. . Int. J. Environ. Res. Public Health, 8 (11), 8383-8398, 2014.
  9. Simpson CL*, Wojciechowski R*, Oexle K*, Murgia F, Portas L, Li X, Verhoeven VJM, Vitart V, Schache M, Hosseini SM, Hysi PG, Raffel LJ, Cotch MF, Chew E, Klein BEK, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Cumberland PM, Rahi JS, Hammond CJ, Hayward C, Wright AF, Paterson AD, Baird PN, Klaver CCW, Rotter JI, Pirastu M, Meitinger T, Bailey-Wilson JE, Stambolian DD.. Genome-wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci.. PLoS ONE, e107110, 2014.
  10. Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, Wojciechowski R, Vitart V, Nag A, Hewitt AW, van Leeuwen EM, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PT, Simpson CL, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T.. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.. Nat Genet, 10 (46), 1126-30, 2014.
  11. Simpson, CL, Wojciechowski, R, Yee, SS, Soni, P, Bailey-Wilson, JE, Stambolian, D. Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort. Mol Vis, 19, 2173-86, 2013.
  12. Staats, KA, Van Helleputte, L, Jones, AR, Bento-Abreu, A, Van Hoecke, A, Shatunov, A, Simpson, CL, Lemmens, R, Jaspers, T, Fukami, K, Nakamura, Y, Brown, RH, Van Damme, P, Liston, A, Robberecht, W, Al-Chalabi, A, Van Den Bosch, L. Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice. Neurobiol Dis, 60, 11-7, 2013.
  13. Simpson, CL, Cropp, CD, Wahlfors, T, George, A, Jones, MS, Harper, U, Ponciano-Jackson, D, Tammela, T, Schleutker, J, Bailey-Wilson, JE. Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis. Eur J Hum Genet, 21 (4), 437-43, 2013.
  14. Wojciechowski, R, Yee, SS, Simpson, CL, Bailey-Wilson, JE, Stambolian, D. Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study. Ophthalmology, 120 (2), 298-305, 2013.
  15. Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Hayward C, Wright AF, Oostra BA, Hosseini SM, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE.. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.. Hum Mol Genet, 13 (22), 2754-64, 2013.
  16. Cheng C-Y, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJM, Barathi VA, Hysi PG, Bailey-Wilson JE, St. Pourcain B, van Duijn CM, de Jong PTVM, Igo Jr RP, Chew EY, Simpson CL, Wojciechowski R, Meitinger T, Oexle K, Pirastu M, Portas L, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo Y-Y, Hammond CJ, Stambolian D, Mackey DA, Klaver CCW, Wong T-Y, Saw S-M, Baird PN.. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error.. Am J Hum Genet, 2 (93), 264-277, 2013.
  17. Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Consortium for Refractive Error and Myopia (CREAM), Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ.. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.. Nat Genet, 3 (45), 314-8, 2013.
  18. Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Helfand BT, Kan D, Catalona WJ, McIntosh L, Ostrander EA, Hebbring S, Schaid DJ, Whittemore AS, Oakley-Girvan I, Hsieh CL, Powell I, Bailey-Wilson JE, Cropp CD, Simpson C, Carpten JD, Hopper JL, English DR, Foulkes WD, Maehle L, Moller P, Badzioch MD, Edwards S, Guy M, Eeles R, Easton D, Isaacs WB. Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG.. Prostate, 4 (72), 410-26, 2012.
  19. Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Duggal P, , Fan Q, Zhou X, Young TL, Tai ES, , Vithana E, Nakata I, Pourcain BS, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Klein BE, Meitinger T, Spector TD, Oostra BA, de Jong PT, Williams C, Zeller T, Castagne R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Hohn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC.. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.. Hum Genet, 9 (131), 1467-1480, 2012.
  20. Hysi PG*, Simpson CL*, Fok YK, Gerrelli D, Webster AR, Bhattacharya SS, Hammond CJ, Sham PC, Rahi JS.. Common Polymorphisms in the SERPINI2 Gene Are Associated with Refractive Error in the 1958 British Birth Cohort.. Invest Ophthalmol Vis Sci., 1 (53), 440-7, 2012.
  21. Bailey-Wilson, JE, Brennan, JS, Bull, SB, Culverhouse, R, Kim, Y, Jiang, Y, Jung, J, Li, Q, Lamina, C, Liu, Y, Mägi, R, Niu, YS, Simpson, CL, Wang, L, Yilmaz, YE, Zhang, H, Zhang, Z. Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data. Genet Epidemiol, 35 Suppl 1, S92-100, 2011.
  22. Kim, Y, Li, Q, Cropp, CD, Sung, H, Cai, J, Simpson, CL, Perry, B, Dasgupta, A, Malley, JD, Wilson, AF, Bailey-Wilson, JE. Performance of random forests and logic regression methods using mini-exome sequence data. BMC Proc, 5 Suppl 9, S104, 2011.
  23. Sung, H, Kim, Y, Cai, J, Cropp, CD, Simpson, CL, Li, Q, Perry, BC, Sorant, AJ, Bailey-Wilson, JE, Wilson, AF. Comparison of results from tests of association in unrelated individuals with uncollapsed and collapsed sequence variants using tiled regression. BMC Proc, 5 Suppl 9, S15, 2011.
  24. Simpson, CL, Justice, CM, Krishnan, M, Wojciechowski, R, Sung, H, Cai, J, Green, T, Lewis, D, Behneman, D, Wilson, AF, Bailey-Wilson, JE. Old lessons learned anew: family-based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini-exome sequence data. BMC Proc, 5 Suppl 9, S83, 2011.
  25. Cropp CD*, Simpson CL*, Wahlfors T, Ha N, George A, Jones MS, Harper U, Ponciano-Jackson D, Green TA, Tammela TL, Joan‐Bailey‐Wilson, Schleutker J.. Genome-wide linkage scan for prostate cancer susceptibility in Finland: Evidence for a novel locus on 2q37.2 and confirmation of signal on 17q21-q22.. Int J Cancer, 10 (129), 2400-7, 2011.
  26. Simpson CL, Wojciechowski R, Ibay G, Stambolian D, Bailey-Wilson JE.. Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.. Mol Vis (17), 1641-51, 2011.
  27. Simpson, CL, Lemmens, R, Miskiewicz, K, Broom, WJ, Hansen, VK, van Vught, PW, Landers, JE, Sapp, P, Van Den Bosch, L, Knight, J, Neale, BM, Turner, MR, Veldink, JH, Ophoff, RA, Tripathi, VB, Beleza, A, Shah, MN, Proitsi, P, Van Hoecke, A, Carmeliet, P, Horvitz, HR, Leigh, PN, Shaw, CE, van den Berg, LH, Sham, PC, Powell, JF, Verstreken, P, Brown, RH, Robberecht, W, Al-Chalabi, A. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet, 18 (3), 472-81, 2009.
  28. Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr.. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.. Proc Natl Acad Sci U S A, 22 (106), 9004-9, 2009.
  29. Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE, Al-Chalabi A, Pall HS, Goodall EF, Morrison KE, Orrell RW, Beck M, Jablonka S, Sendtner M, Brockington A, Ince PG, Hartley J, Nixon H, Shaw PJ, Schiavo G, Wood NW, Goldstein DB, Fisher EM.. Large-scale pathways-based association study in amyotrophic lateral sclerosis.. Brain, Pt9 (130), 2292-2301, 2007.
  30. Simpson CL, Hysi P, Bhattacharya SS, Hammond CJ, Webster A, Peckham CS, Sham PC, Rahi JS.. The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.. Invest Ophthalmol Vis Sci, 10 (48), 4421-5, 2007.
  31. Simpson CL, Al-Chalabi A.. Amyotrophic lateral sclerosis as a complex genetic disease.. Biochim Biophys Acta, 11-12 (1762), 973-985, 2006.
  32. Engle LJ, Simpson CL, Landers JE.. Using high-throughput SNP technologies to study cancer.. Oncogene, 11 (25), 1594-1601, 2006.
  33. Simpson CL, Knight J, Butcher LM, Hansen VK, Meaburn E, Schalkwyk LC, Craig IW, Powell JF, Sham PC, Al-Chalabi A.. A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays.. Nucleic Acids Research, 3 (33), e25, 2005.
  34. Simpson CL, Hansen VK, Sham PC, Collins A, Powell JF, Al-Chalabi A.. MaGIC: A program to generate targeted marker sets for genome-wide association studies.. Biotechniques, 6 (37), 996-999, 2004.
  35. Al-Chalabi A, Hansen VK, Simpson CL, Xi J, Hosler BA, Powell JF, McKenna-Yasek D, Shaw CE, Leigh PN, Brown RH Jr.. Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.. Neurogenetics, 4 (4), 221-222, 2003.
  36. Krantz, ID, Tonkin, E, Smith, M, Devoto, M, Bottani, A, Simpson, C, Hofreiter, M, Abraham, V, Jukofsky, L, Conti, BP, Strachan, T, Jackson, L. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome. Am J Med Genet, 101 (2), 120-9, 2001.
  37. Smith, M, Herrell, S, Lusher, M, Lako, L, Simpson, C, Wiestner, A, Skoda, R, Ireland, M, Strachan, T. Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Hum Genet, 105 (1-2), 104-11, 1999.