• -572 G/C single nucleotide polymorphism of interleukin-6 and sepsis predisposition in chronic renal disease 

      Panayides A., Ioakeimidou A., Karamouzos V., Antonakos N., Koutelidakis I., Giannikopoulos G., Makaritsis K., Voloudakis N., Toutouzas K., Rovina N., Bristianou M., Damoraki G., Routsi C., Giamarellos-Bourboulis E.J. (2015)
      Single nucleotide polymorphisms (SNPs) of interleukin (IL)-6 are associated with the development of chronic renal disease (CRD). Their impact for sepsis in the field of CRD was investigated. One control cohort of 115 ...
    • The -938C>A polymorphism in MYD88 is associated with susceptibility to tuberculosis: A pilot study 

      Aggelou K., Siapati E.K., Gerogianni I., Daniil Z., Gourgoulianis K., Ntanos I., Simantirakis E., Zintzaras E., Mollaki V., Vassilopoulos G. (2016)
      Introduction. Tuberculosis (TB) is a major disease worldwide, caused by Mycobacterium tuberculosis (MTB) infection.The Toll- Like Receptor (TLR) pathway plays a crucial role in the recognition of MTB. Aim. The present study ...
    • Alpha-synuclein repeat variants and survival in parkinson's disease 

      Chung, S. J.; Biernacka, J. M.; Armasu, S. M.; Anderson, K.; Frigerio, R.; Aasly, J. O.; Annesi, G.; Bentivoglio, A. R.; Brighina, L.; Chartier-Harlin, M. C.; Goldwurm, S.; Hadjigeorgiou, G.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Krüger, R.; Lesage, S.; Markopoulou, K.; Mellick, G.; Morrison, K. E.; Puschmann, A.; Tan, E. K.; Crosiers, D.; Theuns, J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z. K.; Elbaz, A.; Maraganore, D. M.; Yahalom, G.; Orlev, Y.; Cohen, O. S.; Kozlova, E.; Friedman, E.; Inzelberg, R.; Hassin-Baer, S. (2014)
      Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ...
    • Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease 

      Sarri C.A., Papadopoulos G.E., Papa A., Tsakris A., Pervanidou D., Baka A., Politis C., Billinis C., Hadjichristodoulou C., Mamuris Z. (2018)
      The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which ...
    • Analysis of ADORA2A rs5760423 and CYP1A2 rs762551 Genetic Variants in Patients with Alzheimer’s Disease 

      Siokas V., Mouliou D.S., Liampas I., Aloizou A.-M., Folia V., Zoupa E., Papadimitriou A., Lavdas E., Bogdanos D.P., Dardiotis E. (2022)
      Various studies have been conducted, exploring the genetic susceptibility of Alzheimer’s disease (AD). Adenosine receptor subtype A2a (ADORA2A) and cytochrome P450 1A2 (CYP1A2) are implicated in pathways such as oxidative ...
    • Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta-Thalassemia: A Multivariate Meta-Analysis 

      Dimou N.L., Pantavou K.G., Bagos P.G. (2017)
      Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results ...
    • Apolipoprotein ϵ4 allele is associated with frailty syndrome: Results from the hellenic longitudinal investigation of ageing and diet study 

      Mourtzi N., Ntanasi E., Yannakoulia M., Kosmidis M., Anastasiou C., Dardiotis E., Hadjigeorgiou G., Sakka P., Scarmeas N. (2019)
      Apolipoprotein (APOE) ϵ4 allele has been associated with a number of age-related diseases but previous studies failed to identify any link with Frailty syndrome. The aim of the present study is to investigate the association ...
    • AQP4 tag SNPs in patients with intracerebral hemorrhage in Greek and Polish population 

      Dardiotis E., Siokas V., Marogianni C., Aloizou A.-M., Sokratous M., Paterakis K., Dardioti M., Grigoriadis S., Brotis A., Kapsalaki E., Fountas K., Jagiella J., Hadjigeorgiou G.M. (2019)
      Backround: A relatively small number of genetic variants are implicated to pathophysiology of intracerebral hemorrhage (ICH). Aquaporin-4 (AQP4) has been reported to be implicated in the pathophysiological processes of ICH ...
    • Arteriovenous Malformations: Congenital or Acquired Lesions? 

      Tasiou A., Tzerefos C., Alleyne C.H., Jr., Boccardi E., Karlsson B., Kitchen N., Spetzler R.F., Tolias C.M., Fountas K.N. (2020)
      Objective: Arteriovenous malformations (AVMs) were believed to be congenital. However, an increasing number of de novo AVM cases have questioned this doctrine. Methods: A consensus meeting of international experts attempted ...
    • Association of anti-CCP positivity and carriage of TNFRII susceptibility variant with anti-TNF-α response in rheumatoid arthritis 

      Vasilopoulos, Y.; Bagiatis, V.; Stamatopoulou, D.; Zisopoulos, D.; Alexiou, I.; Sarafidou, T.; Settas, L.; Sakkas, L.; Mamuris, Z. (2011)
      Objective: To investigate the possible influence of tumour necrosis factoralpha (TNF), TNF receptor I (TNFRI) and TNF receptor II (TNFRII) gene polymorphisms on anti-TNF treatment responsiveness, stratified by autoantibody ...
    • Association of IL-10 gene promoter polymorphisms with food allergy susceptibility and serum IL-10 level in a pediatric Caucasian population 

      Nedelkopoulou N., Taparkou A., Raftopoulou S., Gidaris D., Xinias I., Mavroudi A., Dhawan A., Farmaki E. (2021)
      Background: Interleukin 10 has been shown to play a critical role in the regulation of the immune responses in allergic diseases. Aim: To investigate if genetic polymorphisms in the promoter region of the IL-10 gene are ...
    • Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia 

      Satra M., Samara M., Alatsathianos G., Vamvakopoulou D., Baka A., Tsalazidou-Founta T.-M., Sidiropoulos A., Vamvakopoulos K.-O., Garas A., Daponte A., Vamvakopoulos N., Sotiriou S. (2022)
      Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine ...
    • Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece 

      Vamvakopoulou D.N., Satra M., Fegga A., Kourti M., Sidiropoulos A., Daponte A., Gounaris A., Syrogianopoulos G., Vamvakopoulos N.C., Sotiriou S. (2019)
      Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ...
    • Association of p16 (CDKN2A) polymorphisms with the development of HPV16-related precancerous lesions and cervical cancer in the Greek population 

      Tsakogiannis D., Moschonas G.D., Bella E., Kyriakopoulou Z., Amoutzias G.D., Dimitriou T.G., Kottaridi C., Markoulatos P. (2018)
      The tumor suppressor protein p16 plays a fundamental role in cell cycle regulation and exerts a protective effect against tumor growth. Two different polymorphisms at positions 540 and 580 at the 3′UTR of exon 3 of p16 ...
    • Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study) 

      Divanoglou N., Komninou D., Stea E.A., Argiriou A., Papatzikas G., Tsakalof A., Pazaitou-Panayiotou K., Georgakis M.K., Petridou E. (2021)
      Background/Aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of ...
    • A BAFF Receptor His159Tyr Mutation in Sjögren’s Syndrome-Related Lymphoproliferation 

      Papageorgiou A., Mavragani C.P., Nezos A., Zintzaras E., Quartuccio L., De Vita S., Koutsilieris M., Tzioufas A.G., Moutsopoulos H.M., Voulgarelis M. (2015)
      Objective. To study the prevalence, clinical associations, and functional implications of the His159Tyr mutation of the BAFF receptor (BAFF-R) in patients with Sjögren’s syndrome (SS). Methods. The BAFF-R His159Tyr mutation ...
    • BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm 

      Siokas V., Kardaras D., Aloizou A.-M., Asproudis I., Boboridis K.G., Papageorgiou E., Hadjigeorgiou G.M., Tsironi E.E., Dardiotis E. (2019)
      A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ...
    • BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects 

      Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)
      Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...
    • CD33 rs3865444 as a risk factor for Parkinson's disease 

      Siokas V., Arseniou S., Aloizou A.-M., Tsouris Z., Liampas I., Sgantzos M., Liakos P., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)
      Background: Alzheimer's (AD) and Parkinson's diseases (PD) share a few elements of their clinical, pathological and genetic backgrounds. The CD33 rs3865444 has emerged as a strong genetic locus associated with AD through ...
    • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores 

      de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I.E., Pedersen N.L., Stringa N., Zettergren A., Hernández I., Montrreal L., Antúnez C., Antonell A., Tankard R.M., Bis J.C., Sims R., Bellenguez C., Quintela I., González-Perez A., Calero M., Franco-Macías E., Macías J., Blesa R., Cervera-Carles L., Menéndez-González M., Frank-García A., Royo J.L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., García-Madrona S., García-González P., Alarcón-Martín E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A.C., Lemstra A.W., Benaque A., Pérez-Cordón A., Benussi A., Rábano A., Padovani A., Squassina A., de Mendonça A., Arias Pastor A., Kok A.A.L., Meggy A., Pastor A.B., Espinosa A., Corma-Gómez A., Martín Montes A., Sanabria Á., DeStefano A.L., Schneider A., Haapasalo A., Kinhult Ståhlbom A., Tybjærg-Hansen A., Hartmann A.M., Spottke A., Corbatón-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B.G., Kunkle B.W., Charbonnier C., Abdelnour C., Masullo C., Martínez Rodríguez C., Muñoz-Fernandez C., Dufouil C., Graff C., Ferreira C.B., Chillotti C., Reynolds C.A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C.L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grünblatt E., Dardiotis E., Düzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Küçükali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbæk G., Ortega G., Chêne G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I.K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J.-S., Lehtisalo J., Wiltfang J., Thomassen J.Q., Kornhuber J., Haines J.L., Vogelgsang J., Pineda J.A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fließbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L.A., Wang L.-S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M.A., Deniz-Naranjo M.C., Tsolaki M., Rosende-Roca M., Löwenmark M., Hulsman M., Spallazzi M., Pericak-Vance M.A., Esiri M., Bernal Sánchez-Arjona M., Dalmasso M.C., Martínez-Larrad M.T., Arcaro M., Nöthen M.M., Fernández-Fuertes M., Dichgans M., Ingelsson M., Herrmann M.J., Scherer M., Vyhnalek M., Kosmidis M.H., Yannakoulia M., Schmid M., Ewers M., Heneka M.T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N.M., Seidu N.M., Banaj N., Armstrong N.J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O.A., Quenez O., Lerch O., Bossù P., Caffarra P., Dionigi Rossi P., Sakka P., Hoffmann P., Holmans P.A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R.N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hägg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y.A.L., Smith A.D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martínez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C.P., Laske C., Anastasiou C., Palacio D.L., Politis D.G., Janowitz D., Craig D., Mann D.M., Neary D., Jürgen D., Daian D., Belezhanska D., Kohler E., Castaño E.M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E.R.L.C., Piras F., Roveta F., Piras F., Prestia F.A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kölsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindström J., Laczo J., Johnston J., Deleuze J.-F., Harris J., Schott J.M., Priller J., Bacha J.I., Snowden J., Lisso J., Mihova K.Y., Traykov L., Morelli L., Brusco L.I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M.J., Kosmidis M.H., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N.C., Salvadori N., Hooper N.M., Galeano P., Solis P., Bastiani P., Mecocci P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., López-García S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T.M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Abdelnour C., Aguilera N., Alarcon E., Alegret M., Benaque A., Boada M., Buendia M., Cañabate P., Carracedo A., Corbatón-Anchuelo A., Diego S., Espinosa A., Gailhajenet A., Gil S., Guitart M., Hernández I., Ibarria M., Lafuente A., Macias J., Maroñas O., Martín E., Martínez M.T., Marquié M., Mauleón A., Montrreal L., Moreno-Grau S., Moreno M., Orellana A., Ortega G., Pancho A., Pelejá E., Pérez-Cordon A., Preckler S., Quintela I., Real L.M., Rosende-Roca M., Ruiz A., Sáez M.E., Sanabria A., Serrano-Rios M., Sotolongo-Grau O., Tárraga L., Valero S., Vargas L., Adarmes-Gómez A.D., Alarcón-Martín E., Alonso M.D., Álvarez I., Álvarez V., Amer-Ferrer G., Antequera M., Antúnez C., Baquero M., Bernal M., Blesa R., Boada M., Buiza-Rueda D., Bullido M.J., Burguera J.A., Calero M., Carrillo F., Carrión-Claro M., Casajeros M.J., Clarimón J., Cruz-Gamero J.M., de Pancorbo M.M., del Ser T., Diez-Fairen M., Escuela R., Garrote-Espina L., Fortea J., Franco-Macías E., Frank-García A., García-Alberca J.M., Garcia Madrona S., Garcia-Ribas G., Gómez-Garre P., Hernández I., Hevilla S., Jesús S., Labrador Espinosa M.A., Lage C., Legaz A., Lleó A., Lopez de Munain A., López-García S., Macias-García D., Manzanares S., Marín M., Marín-Muñoz J., Marín T., Marquié M., Martín Montes A., Martínez B., Martínez C., Martínez V., Martínez-Lage Álvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J.L., Pastor P., Pérez-Tur J., Periñán-Tocino T., Pineda-Sanchez R., Piñol-Ripoll G., Rábano A., Real de Asúa D., Rodrigo S., Rodríguez-Rodríguez E., Royo J.L., Ruiz A., Sanchez del Valle Díaz R., Sánchez-Juan P., Sastre I., Valero S., Vicente M.P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E.W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Jansen I.E., Rongve A., Kehoe P.G., Garcia-Ribas G., Sánchez-Juan P., Pastor P., Lopez de Munain A., García-Alberca J.M., Bullido M.J., Álvarez V., Real L.M., Scheltens P., Holstege H., Marquié M., Sáez M.E., Amouyel P., Schellenberg G.D., Williams J., Seshadri S., van Duijn C.M., Mather K.A., Sánchez-Valle R., Serrano-Ríos M., Orellana A., Tárraga L., Blennow K., Huisman M., Andreassen O.A., Posthuma D., Clarimón J., Boada M., van der Flier W.M., Ramirez A., Lambert J.-C., van der Lee S.J., Ruiz A., EADB contributors, The GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia (2021)
      Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...