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Department of Biological Sciences Peristera Paschou Lab
Studying genomic variation in health and disease

Publications

Selected Recent Publications

Population structure
  1. Bose A, Burch M, Chowdhury A, Paschou P, Drineas P (2023). Structure-informed clustering for population stratification in association studies. BMC Bioinformatics 24(1):411.
  2. Jain PR, Burch M, Martinez M, Mir P, Fichna JP, Zekanowski C, Rizzo R, Tümer Z, Barta C, Yannaki E, Stamatoyannopoulos J, Drineas P, Paschou P (2023). Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation. BMC Genom Data 20;24(1):70
  3. Yang ZG, Paschou P*, Drineas P (2022). Reconstructing SNP allele and genotype frequencies from GWAS summary statistics. Sci Rep;12(1):8242. 
  4. Bose A, Platt DE, Parida L, Drineas P, Paschou P* (2021). Integrating Linguistics, Social Structure, and Geography to Model Genetic Diversity within India. Mol Biol Evol 38(5):1809-1819.
  5. Raveane A, Aneli S, Montinaro F, Athanasiadis G, Barlera S, Birolo G, Boncoraglio G, Di Blasio AM, Di Gaetano C, Pagani L, Parolo S, Paschou P, et al. (2019). Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe. Sci Adv 4;5(9):eaaw3492. (FULL TEXT)
  6. Bose A, Kalantzis V, Kontopoulou E, Elkady M, Paschou P, Drineas P (2019). TeraPCA: a fast and scalable software package to study genetic variation in tera-scale genotypes. Bioinformatics in press (FULL TEXT)
  7. Stamatoyannopoulos G, Bose A, Teodosiadis A, Tsetsos F, Plantinga A, Psatha N, Zogas N, Yannaki E, Zalloua P, Kidd KK, Browning BL, Stamatoyannopoulos J, Paschou P, Drineas P (2017). Genetics of the peloponnesean populations and the theory of extinction of the medieval peloponnesean Greeks. Eur J Hum Genet 25(5):637-645 (FULL TEXT)
  8. Alexander J, Mantzaris D, Georgitsi M, Drineas P, Paschou P (2017). Variant Ranker: a web-tool to rank genomic data according to functional significance. BMC Bioinformatics. 18(1):341. 
  9. Paschou P, Drineas P, Yannaki E, Razou A, Kanaki K, Tsetsos F , Padmanabhuni SS, Michalodimitrakis M, Renda MC, Pavlovic S, Anagnostopoulos A, Stamatoyannopoulos JA, Kidd KK, Stamatoyannopoulos G. A maritime route of colonization of Europe. Proceedings of the National Academy of Sciences USA, 111:9211-9216. (FULL TEXT)
  10. Hughey JR, Paschou P, Drineas P, Mastropaolo D, Lotakis DM, Navas PA, Michalodimitrakis M, Stamatoyannopoulos JA, Stamatoyannopoulos G (2013). A European Population in the Minoan Bronze Age Crete. Nature Communications, 4: 1861. (FULL TEXT)
  11. Stathias V, Sotiris G, Karagiannidis I, Bourikas G, Martinis G, Papazoglou D, Tavridou A, Papanas N, Maltezos E, Theodoridis M, Vargemezis V, Manolopoulos VG, Speed WC, Kidd JR, Kidd KK, Drineas P, Paschou P (2012). Exploring genomic structure differences and similarities between the Greek and European HapMap populations; implications for association studies. Annals of Human Genetics, 76(6): 472-483. (PDF)
  12. Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK. A global view of the OCA2-HERC2 region and pigmentation. Hum Genetics, in press. (PDF)
  13. Javed A, Drineas P, Mahoney MW, Paschou P. Efficient genomewide selection of PCA-correlated tSNPs for genotype imputation. Annals of Human Genetics, 75, 707-722. (PDF)
  14. Lewis J, Abas Z, Dadousis C, Lykidis D, Paschou P, Drineas P (2011). Tracing Cattle Breeds With PCA-based Ancestry Informative SNPs. PLoS ONE 6(4):e18007. (PDF)
  15. Paschou P, Lewis J, Javed A, Drineas P (2010). Ancestry informative markers for fine-scale individual assignment to worldwide populations.  Journal of Medical Genetics 47, 835-847. (PDF)
  16. Drineas P, Lewis J, Paschou P. Inferring Geographic Coordinates of Origin for Europeans using Small Panels of Ancestry Informative Markers. PLoS ONE 5(8):e11892. (PDF)
  17. Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Mehdi SQ, Kajuna SL, Barta C, Kungulilo S, Karoma NJ, Lu RB, Zhukova OV, Kim JJ, Comas D, Siniscalco M, New M, Li P, Li H, Manolopoulos VG, Speed WC, Rajeevan H, Pakstis AJ, Kidd JR, Kidd KK (2010). The distribution and most recent common ancestor of the 17q21 inversion in humans. Am J Hum Genet 86, 161-171. (PDF)
  18. Paschou P, Drineas P, Lewis J, Nievergelt CM, Nickerson DA, Smith JD, Ridker PM, Chasman DI, Krauss RM, Ziv E (2008). Tracing sub-structure in the European American population with PCA-informative markers. PLoS Genetics 4:e1000114. (PDF)
  19. Paschou P, Ziv E, Burchard EG, ChoudryS, Rodriguez-Cintron W, Mahoney MW,   Drineas P (2007). PCA-correlated SNPs for structure identification in worldwide human populations. PLoS Genetics 3, e160. (PDF)
  20. Paschou P, Mahoney M, Pakstis A, Kidd JR, Kidd KK, Drineas P (2007). Inter- and intrapopulation genotype reconstruction from tagging SNPs. Genome Research 17, 96-107. (PDF)
Tourette Syndrome and psychiatric genetics
  1. Tsetsos F, Topaloudi A, Jain P, Yang Z,… Paschou P* (2023). Genome-wide Association Study points to novel locus for Gilles de la Tourette Syndrome. Biological Psychiatry in press. 
  2. Jain P, Miller-Fleming T, Topaloudi A …. Paschou P* (2023).  Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome. Transl Psychiatry13, 69. 
  3. Paschou P*, Jin Yg Müller-Vahl K, et al (2022). Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration. Front Psychiatry; 13:958688. 
  4. Yang Z, Wu H, Lee PH, Tsetsos F, Davis LK, Yu D, Lee SH, Dalsgaard S, Haavik J, Barta C, Zayats T, Eapen V, Wray NR, Devlin B, Daly M, Neale B, Børglum AD, Crowley JJ, Scharf J, Mathews CA, Faraone SV, Franke B, Mattheisen M, Smoller JW, Paschou P* (2021). Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum. Biol Psychiatry 90(5):317-327.
  5. Mufford M, Cheung J, Jahanshad N, van der Merwe C, Ding L, Groenewold N, Koen N, Chimusa ER, Dalvie S, Ramesar R, Knowles JA, Lochner C, Hibar DP, Paschou P, et al (2019). Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry. Transl Psychiatry 9(1):120. (FULL TEXT)
  6. Yu D*, Sul JH*, Tsetsos F*g,..., Paschou P#, Coppola G#, Mathews CA#, Scharf JM# (2019). Interrogating the genetic determinants of Tourette syndrome and other tic disorders through genome-wide association studies. American Journal of Psychiatry 176(3):217-227. * equal conribution first authors, #equal contribution senior corresponding authors (FULL TEXT)
  7. Wang S, Mandell JD, Kumar Yp, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Zg, Padmanabhuni SSP....P Paschou*, Willsey JA*, State MA* (2018). De Novo Sequence and Copy Number Variants are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports 24(13):3441-3454  *equal contribution senior corresponding authors (FULL TEXT)
  8. Paschou P*, Müller-Vahl K (2017). Editorial: The Neurobiology and Genetics of Gilles de la Tourette Syndrome: New Avenues through Large-Scale Collaborative Projects. Front Psychiatry. 8:197 (FULL TEXT)
  9. Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, King RA, Dion Y, Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Müller-Vahl KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M, Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P, Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA, Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P*, Mathews CA*, Scharf JM*, Coppola G*; Tourette Syndrome Association International Consortium for Genetics (TSAICG); Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI) (2017). Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron Jun 21;94(6):1101-1111. (FULL TEXT)
  10. Robertson MM, Eapen V, Singer HS, Martino D, Scharf JM, Paschou P, Roessner V, Woods DW, Hariz M, Mathews CA, Črnčec R, Leckman JF (2017). Gilles de la Tourette syndrome. Nat Rev Dis Primers Feb 2;3:16097. (FULL TEXT)
  11. Padmanabhuni SS, Houssari R, Esserlind AL, Olesen J, Werge TM, Hansen TF, Bertelsen B, Tsetsos F, Paschou P, Tümer Z (2016). Investigation of SNP rs2060546 Immediately Upstream to NTN4 in a Danish Gilles de la Tourette Syndrome Cohort. Front Neurosci. Nov 22;10:531. (FULL TEXT)
  12. Alexander J, Potamianou H, Xing J, Deng L, Karagiannidis I, Tsetsos F, Drineas P, Tarnok Z, Rizzo R, Wolanczyk T, Farkas L, Nagy P, Szymanska U, Androutsos C, Tsironi V, Koumoula A, Barta C; TSGeneSEE, Sandor P, Barr CL, Tischfield J, Paschou P, Heiman GA, Georgitsi M (2016). Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology. Front Neurosci. Sep 21;10:428. (FULL TEXT)
  13. Forde NJ, Kanaan AS, Widomska J, Padmanabhuni SS, Nespoli E, Alexander J, Rodriguez Arranz JI, Fan S, Houssari R, Nawaz MS, Rizzo F, Pagliaroli L, Zilhäo NR, Aranyi T, Barta C, Boeckers TM, Boomsma DI, Buisman WR, Buitelaar JK, Cath D, Dietrich A, Driessen N, Drineas P, Dunlap M, Gerasch S, Glennon J, Hengerer B, van den Heuvel OA, Jespersgaard C, Möller HE, Müller-Vahl KR, Openneer TJ, Poelmans G, Pouwels PJ, Scharf JM, Stefansson H, Tümer Z, Veltman DJ, van der Werf YD, Hoekstra PJ, Ludolph A, Paschou P* (2016). TS-EUROTRAIN: A European-Wide Investigation and Training Network on the Etiology and Pathophysiology of Gilles de la Tourette Syndrome. Front Neurosci. Aug 23;10:384. (FULL TEXT)
  14. Georgitsi M, Willsey AJ, Mathews CA, State M*, Scharf JM*, Paschou P* (2016). The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. Front Neurosci. Aug 3;10:351. (FULL TEXT)
  15. Tsetsos F, Padmanabhuni SS, Alexander J, Karagiannidis I, Tsifintaris M, Topaloudi A, Mantzaris D, Georgitsi M, Drineas P, Paschou P* (2016). Meta-Analysis of Tourette Syndrome and Attention Deficit Hyperactivity Disorder Provides Support for a Shared Genetic Basis. Front Neurosci. Jul 22;10:340. (FULL TEXT)
  16. Karagiannidis I, Tsetsos F, Padmanabhuni SS, Alexander J, Georgitsi M, Paschou P* (2016). The Genetics of Gilles de la Tourette Syndrome: a Common Aetiological Basis with Comorbid Disorders? Current Behavioral Neuroscience Reports 3: 218-231.
  17. Zilhão NR, Padmanabhuni SS, Pagliaroli L, Barta C; BIOS Consortium, Smit DJ, Cath D, Nivard MG, Baselmans BM, van Dongen J, Paschou P*, Boomsma DI* (2015). Epigenome-Wide Association Study of Tic Disorders.Twin Res Hum Genet 18(6):699-709. (FULL TEXT)
  18. Bertelsen B, Stefánsson H, Riff Jensen L, Melchior L, Mol Debes N, Groth C, Skov L, Werge T, Karagiannidis I, Tarnok Z, Barta C, Nagy P, Farkas L, Brøndum-Nielsen K, Rizzo R, Gulisano M, Rujescu D, Kiemeney LA, Tosato S, Nawaz MS, Ingason A, Unnsteinsdottir U, Steinberg S, Ludvigsson P, Stefansson K, Kuss AW, Paschou P, Cath D, Hoekstra PJ, Müller-Vahl K, Stuhrmann M, Silahtaroglu A, Pfundt R, Tümer Z (2015). Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. Biol Psychiatry 79(5):383-391. (FULL TEXT)
  19. Paschou P*, Yu, D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I et al. Genetic association signal near NTN4 in Tourette Syndrome (2014). Annals of Neurology, 76:310-315. (FULL TEXT)
  20. Tümer Z, Bertelsen B, Melchior L, Jensen L, Groth C, Glenthøj B, Rizzo R, Mol Debes N, Skov L, Brøndum-Nielsen K, Paschou P, Silahtaroglu A (2014). Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome. European Journal of Human Genetics, in press 
  21. Karagiannidis I, Dehning S, Sandor P, Tarnok Z, Rizzo R, Wolanczyk T, Madruga-Garrido M, Hebebrand J, Nöthen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Anastasiou Z, Stathias V, Androutsos C, Tsironi V, Koumoula A, Barta C, Zill P, Mir P, Müller N, Barr C, Paschou P (2013). Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families. J Med Genet 50(11):760-764. (PDF)
  22. Paschou P (2013). The genetic basis of Gilles de la Tourette Syndrome. Neurosci Biobehav Rev,  37(6):1026-39. (PDF)
  23. Rickards HE, Paschou P, Rizzo R, Stern JS (2013). A brief history oft he European Society for the Study of Tourette Syndrome. Behav Neurol, 27(1):3-5.
  24. Paschou P, Stylianopoulou E, Karagiannidis I, Rizzo R, Tarnok Z, Wolanczyk T, Hebebrand J, Noethen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Lykidis D, Androutsos C, Tsironi V, Koumoula A, Barta C, Klidonas S, Ypsilantis P, Simopoulos C, TSGeneSEE, Skavdis G, Grigoriou M. Evaluation of LIM homeopbox genes LHX6 and LHX8 as candidates for Tourette Syndrome. Genes Brain and Behavior in press (PDF).
  25. Karagiannidis I, Rizzo R, Tarnok Z, Wolanczyk T, Hebebrand J, Noethen MM, Lehmkuhl G, Farkas L, Nagy P, Barta C, Szymanska U, Panteloglou G, Miranda DM, Feng Y, Sandor P, Barr C, Paschou P. The most common worldwide haplotype across SLITRK1 is associated with Tourette Syndrome in a large sample of families. Molecular Psychiatry in press (PDF)
  26. Müller-Vahl KR, Cath DC, Cavanna AE, Dehning S, Porta M, Robertson MM, Visser-Vandewalle V; ESSTS Guidelines Group (2011). European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: deep brain stimulation. Eur Child Adolesc Psychiatry 20(4):209-217. (PubMed)
  27. Verdellen C, van de Griendt J, Hartmann A, Murphy T; ESSTS Guidelines Group (2011). European clinical guidelines for Tourette syndrome and other tic disorders. Part III: behavioural and psychosocial interventions. Eur Child Adolesc Psychiatry. 20(4):197-207.  (PubMed)
  28. Roessner V, Plessen KJ, Rothenberger A, Ludolph AG, Rizzo R, Skov L, Strand G, Stern JS, Termine C, Hoekstra PJ; ESSTS Guidelines Group (2011). European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment. Eur Child Adolesc Psychiatry 20(4):173-196. (PDF)
  29. Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, Czernecki V, Robertson MM, Martino D, Munchau A, Rizzo R; ESSTS Guidelines Group (2011). European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment. Eur Child Adolesc Psychiatry 20(4):155-171. (PDF)
  30. Paschou P, Feng Y, Pakstis AJ, Speed WC, DeMille MM, Kidd JR, Jaghori B, Kurlan R, Pauls DL, Sandor P, Barr CL, Kidd KK (2004). Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region. Am J Hum Genet 75,545-560. (PDF)
  31. Palmatier MA, Pakstis AJ, Speed W, Paschou P, Goldman D, Odunsi A, Okonofua F, Kajuna S, Karoma N, Kungulilo S, Grigorenko E, Zhukova OV, Bonne-Tamir B, Lu RB, Parnas J, Kidd JR, DeMille MM, Kidd KK (2004). COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Mol Psychiatry 9, 859-870. (PDF)
Neurodegenerative Disorders
  1. Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A (2017). 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. Mol Psychiatry. 22(8):1119-1125. (FULL TEXT)
  2. Alexander J, Kalev O, Mehrabian S, Traykov L, Raycheva M, Kanakis D, Drineas P, Lutz MI, Ströbel T, Penz T, Schuster M, Bock C, Ferrer I, Paschou P*, Kovacs GG* (2016). Familial early-onset dementia with complex neuropathologic phenotype and genomic background. Neurobiol Aging 42:199-204 (FULL TEXT)
Diabetes
  1. Roumeliotis A, Roumeliotis S, Tsetsos F, Georgitsi M, Georgianos PI, Stamou A, Vasilakou A, Kotsa K, Tsekmekidou X, Paschou P, Panagoutsos S, Liakopoulos V (2021). Oxidative Stress Genes in Diabetes Mellitus Type 2: Association with Diabetic Kidney Disease. Oxid Med Cell Longev:2531062
  2. Tsetsos F, Roumeliotis A, Tsekmekidou X, Alexouda S, Roumeliotis S, Theodoridis M, Thodis E, Panagoutsos S, Papanas N, Papazoglou D, Kotsa K, Yovos JG, Maltezos E, Passadakis P, Paschou P, Georgitsi M (2020). Genetic variation in CARD8, a gene coding for an NLRP3 inflammasome-associated protein, alters the genetic risk for diabetic nephropathy in the context of type 2 diabetes mellitus. Diab Vasc Dis Res17(6):1479164120970892. 
  3. Roumeliotis AK, Roumeliotis SK, Panagoutsos SA, Tsetsos F, Georgitsi M, Manolopoulos V, Paschou P, Passadakis PS (2017). Association of ALOX12 gene polymorphism with all-cause and cardiovascular mortality in diabetic nephropathy. Int Urol Nephrol in press. 
  4. Paschou P, Kukuvitis A, Yavropoulou M, Dritsoula A, Giapoutzidis V, Anastasiou O, Kazakos K. Yovos JG (2010). Genetic variation in the visfatin (PBEF1/NAMPT) gene and type 2 diabetes in the Greek population. Cytokine, 51, 25-27. (PDF)
  5. Hermann R, Bartsocas CS, Soltesz G, Vazeou A, Paschou P, Bozas E, Malamitsi-Puchner A, Simell O, Knip M, Ilonen J (2004). Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence. Diabetes Metab Res Rev 20,322-329. (PDF)
  6. Paschou P, Malamitsi A, Bozas E, Havarani B, Dokopoulou M, Bartsocas CS (2004). HLA alleles and Type 1 Diabetes in low disease incidence populations of Southern Europe; a comparison of Greeks and Albanians. Journal of Pediatric Endocrinology and Metabolism 17, 173-182. (PDF)
  7. Ilonen J, Sjoroos M, Knip M, Veijola R, Simell O, Akerblom HK, Paschou P, Bozas E, Havarani B, Malamitsi-Puchner A, Thymelli J, Vazeou A, Bartsocas CS (2002). Estimation of genetic risk for type 1 diabetes. Am J Med Genet 115, 30-36. (PDF)
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