Now showing items 1-20 of 29

  • 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 ...
  • Association of FCGR2A with the response to infliximab treatment of patients with rheumatoid arthritis 

    Montes, A.; Perez-Pampin, E.; Narváez, J.; Cañete, J. D.; Navarro-Sarabia, F.; Moreira, V.; Fernández-Nebro, A.; Del Carmen Ordóñez, M.; De La Serna, A. R.; Magallares, B.; Vasilopoulos, Y.; Sarafidou, T.; Caliz, R.; Ferrer, M. A.; Joven, B.; Carreira, P.; Gómez-Reino, J. J.; Gonzalez, A. (2014)
    OBJECTIVES: We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS: A total of 429 biologic-naive ...
  • Association of KLOTHO Gene Polymorphisms with Knee Osteoarthritis in Greek Population 

    Tsezou, A.; Furuichi, T.; Satra, M.; Makrythanasis, P.; Ikegawa, S.; Malizos, K. N. (2008)
    Based on the fact that klotho-deficient mice exhibit multiple aging phenotypes, including osteopenia and subchondral sclerosis of joints and on the recent observation that KLOTHO gene plays an important role in calcium/phosphate ...
  • Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: A case-control study 

    Qin, J.; Shi, D.; Dai, J.; Zhu, L.; Tsezou, A.; Jiang, Q. (2010)
    Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) ...
  • Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): The CUMAGAS-BMD information system 

    Zintzaras, E.; Doxani, C.; Ziogas, D. C.; Mprotsis, T.; Rodopoulou, P.; Karachalios, T. (2011)
    The focal adhesion, the actin cytoskeleton and cell-cycle are connected pathways and their genes are implicated in the pathogenesis of low BMD. Data from 211 studies that investigated the association between BMD and gene ...
  • Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis 

    Tzetis, M.; Kaliakatsos, M.; Fotoulaki, B.; Papatheodorou, A.; Doudounakis, S.; Tsezou, A.; Makrythanasis, P.; Kanavakis, E.; Nousia-arvanitakis, S. (2007)
    Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ...
  • Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach 

    Silveira, A. C.; Morrison, M. A.; Ji, F.; Xu, H.; Reinecke, J. B.; Adams, S. M.; Arneberg, T. M.; Janssian, M.; Lee, J. E.; Yuan, Y.; Schaumberg, D. A.; Kotoula, M. G.; Tsironi, E. E.; Tsiloulis, A. N.; Chatzoulis, D. Z.; Miller, J. W.; Kim, I. K.; Hageman, G. S.; Farrer, L. A.; Haider, N. B.; DeAngelis, M. M. (2010)
    To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). ...
  • Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis 

    Liu, J. Z.; Hov, J. R.; Folseraas, T.; Ellinghaus, E.; Rushbrook, S. M.; Doncheva, N. T.; Andreassen, O. A.; Weersma, R. K.; Weismüller, T. J.; Eksteen, B.; Invernizzi, P.; Hirschfield, G. M.; Gotthardt, D. N.; Pares, A.; Ellinghaus, D.; Shah, T.; Juran, B. D.; Milkiewicz, P.; Rust, C.; Schramm, C.; Muler, T.; Srivastava, B.; Dalekos, G.; Nöthen, M. M.; Herms, S.; Winkelmann, J.; Mitrovic, M.; Braun, F.; Ponsioen, C. Y.; Croucher, P. J. P.; Sterneck, M.; Teufel, A.; Andrew, L. Mason; Saarela, J.; Leppa, V.; Dorfman, R.; Alvaro, D.; Floreani, A.; Onengut-Gumuscu, S.; Rich, S. S.; Thompson, W. K.; Schork, A. J.; Næss, S.; Thomsen, I.; Mayr, G.; König, I. R.; Hveem, K.; Cleynen, I.; Gutierrez-Achury, J.; Ricaño-Ponce, I.; Van Heel, D.; Björnsson, E.; Sandford, R. N.; Durie, P. R.; Melum, E.; Vatn, M. H.; Silverberg, M. S.; Duerr, R. H.; Padyukov, L.; Brand, S.; Sans, M.; Annese, V.; Achkar, J. P.; Boberg, K. M.; Marschall, H. U.; Chazouillères, O.; Bowlus, C. L.; Wijmenga, C.; Schrumpf, E.; Vermeire, S.; Albrecht, M.; Rioux, J. D.; Alexander, G.; Bergquist, A.; Cho, J.; Schreiber, S.; Manns, M. P.; Färkkilä, M.; Dale, A. M.; Chapman, R. W.; Konstantinos, N. Lazaridis; Franke, A.; Anderson, C. A.; Karlsen, T. H. (2013)
    Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of ...
  • Effect of angiotensin-converting enzyme tag single nucleotide polymorphisms on the outcome of patients with traumatic brain injury 

    Dardiotis, E.; Paterakis, K.; Siokas, V.; Tsivgoulis, G.; Dardioti, M.; Grigoriadis, S.; Simeonidou, C.; Komnos, A.; Kapsalaki, E.; Fountas, K.; Hadjigeorgiou, G. M. (2015)
    Background Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme ...
  • Gamma-aminobutyric acid A receptor, alpha-2 (GABRA2) variants as individual markers for alcoholism: a meta-analysis 

    Zintzaras, E. (2012)
    Objectives The available evidence from the genetic association studies (GAS) published to date on the association between variants in the GABRA2 gene and alcoholism has produced inconclusive results. To interpret these ...
  • The Generalized Odds Ratio as a Measure of Genetic Risk Effect in the Analysis and Meta-Analysis of Association Studies 

    Zintzaras, E. (2010)
    The significance of risk effects in genetic association studies is assessed using the odds ratio for various genetic models (dominant, recessive and co-dominant) by merging genotypes. These models are not independent and ...
  • A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22 

    Kerkhof, H. J. M.; Lories, R. J.; Meulenbelt, I.; Jonsdottir, I.; Valdes, A. M.; Arp, P.; Ingvarsson, T.; Jhamai, M.; Jonsson, H.; Stolk, L.; Thorleifsson, G.; Zhai, G.; Zhang, F.; Zhu, Y.; Van Der Breggen, R.; Carr, A.; Doherty, M.; Doherty, S.; Felson, D. T.; Gonzalez, A.; Halldorsson, B. V.; Hart, D. J.; Hauksson, V. B.; Hofman, A.; Ioannidis, J. P. A.; Kloppenburg, M.; Lane, N. E.; Loughlin, J.; Luyten, F. P.; Nevitt, M. C.; Parimi, N.; Pols, H. A. P.; Rivadeneira, F.; Slagboom, E. P.; Styrḱarsd́ottir, U.; Tsezou, A.; Van De Putte, T.; Zmuda, J.; Spector, T. D.; Stefansson, K.; Uitterlinden, A. G.; Van Meurs, J. B. J. (2010)
    Objective. To identify novel genes involved in osteoarthritis (OA), by means of a genome-wide association study. Methods. We tested 500,510 single-nucleotide polymorphisms (SNPs) in 1,341 Dutch Caucasian OA cases and 3,496 ...
  • Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology 

    Jun, G.; Nicolaou, M.; Morrison, M. A.; Buros, J.; Morgan, D. J.; Radeke, M. J.; Yonekawa, Y.; Tsironi, E. E.; Kotoula, M. G.; Zacharaki, F.; Mollema, N.; Yuan, Y.; Miller, J. W.; Haider, N. B.; Hageman, G. S.; Kim, I. K.; Schaumberg, D. A.; Farrer, L. A.; DeAngelis, M. M. (2011)
    ROBO1 is a strong candidate gene for age-related macular degeneration (AMD) based upon its location under a linkage peak on chromosome 3p12, its expression pattern, and its purported function in a pathway that includes ...
  • Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility 

    Jiang, Q.; Shi, D.; Nakajima, M.; Dai, J.; Wei, J.; Malizos, K. N.; Qin, J.; Miyamoto, Y.; Kamatani, N.; Liu, B.; Tsezou, A.; Nakamura, T.; Ikegawa, S. (2008)
    A genetic association of knee osteoarthritis (OA) and a C/T transition single nucleotide polymorphism (SNP) (rs912428) located in intron 1 of the LRCH1 gene has recently been reported in European Caucasians; however, the ...
  • Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations 

    Meulenbelt, I.; Chapman, K.; Dieguez-Gonzalez, R.; Shi, D.; Tsezou, A.; Dai, J.; Malizos, K. N.; Kloppenburg, M.; Carr, A.; Nakajima, M.; van der Breggen, R.; Lakenberg, N.; Gomez-Reino, J. J.; Jiang, Q.; Ikegawa, S.; Gonzalez, A.; Loughlin, J.; Slagboom, E. P. (2009)
    Recently, through a genome wide association study in Japanese knee osteoarthritis (OA) cases, a previously unknown gene, DVWA, was identified. The non-synonymous single nucleotide polymorphism (SNP) rs7639618 was subsequently ...
  • A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease 

    Krüger, R.; Sharma, M.; Riess, O.; Gasser, T.; Van Broeckhoven, C.; Theuns, J.; Aasly, J.; Annesi, G.; Bentivoglio, A. R.; Brice, A.; Djarmati, A.; Elbaz, A.; Farrer, M.; Ferrarese, C.; Gibson, J. M.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Klein, C.; Lambert, J. C.; Lesage, S.; Lin, J. J.; Lynch, T.; Mellick, G. D.; de Nigris, F.; Opala, G.; Prigione, A.; Quattrone, A.; Ross, O. A.; Satake, W.; Silburn, P. A.; Tan, E. K.; Toda, T.; Tomiyama, H.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Maraganore, D. M. (2011)
    High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility. Therefore, we performed a large-scale analysis of the association of common ...
  • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

    Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
    Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
  • Maternal atopy and childhood bronchial asthma [2] 

    Gourgoulianis, K. I.; Papagianni, M.; Molyvdas, P. A. (1998)
  • MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease 

    Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)
    Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...
  • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22 

    Evangelou, E.; Valdes, A. M.; Kerkhof, H. J. M.; Styrkarsdottir, U.; Zhu, Y.; Meulenbelt, I.; Lories, R. J.; Karassa, F. B.; Tylzanowski, P.; Bos, S. D.; Rayner, N. W.; Southam, L.; Zhai, G.; Elliott, K. S.; Hunt, S. E.; Blackburn, H.; Potter, S. C.; Day-Williams, A. G.; Beazley, C.; Akune, T.; Arden, N. K.; Carr, A.; Chapman, K.; Cupples, L. A.; Dai, J.; Deloukas, P.; Doherty, M.; Doherty, S.; Engstrom, G.; Gonzalez, A.; Halldorsson, B. V.; Hammond, C. L.; Hart, D. J.; Helgadottir, H.; Hofman, A.; Ikegawa, S.; Ingvarsson, T.; Jiang, Q.; Jonsson, H.; Kaprio, J.; Kawaguchi, H.; Kisand, K.; Kloppenburg, M.; Kujala, U. M.; Lohmander, L. S.; Loughlin, J.; Luyten, F. P.; Mabuchi, A.; McCaskie, A.; Nakajima, M.; Nilsson, P. M.; Nishida, N.; Ollier, W. E. R.; Panoutsopoulou, K.; Van De Putte, T.; Ralston, S. H.; Rivadeneira, F.; Saarela, J.; Schulte-Merker, S.; Shi, D.; Slagboom, P. E.; Sudo, A.; Tamm, A.; Thorleifsson, G.; Thorsteinsdottir, U.; Tsezou, A.; Wallis, G. A.; Wilkinson, J. M.; Yoshimura, N.; Zeggini, E.; Zhang, F.; Jonsdottir, I.; Uitterlinden, A. G.; Felson, D. T.; Van Meurs, J. B.; Stefansson, K.; Ioannidis, J. P. A.; Spector, T. D. (2011)
    Objectives: Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including ...