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Parcourir par sujet "Polymorphism, Single Nucleotide"

Voici les éléments 21-40 de 90

    • Does SCFD1 rs10139154 Polymorphism Decrease Alzheimer’s Disease Risk? 

      Stamati P., Siokas V., Aloizou A.-M., Karampinis E., Arseniou S., Rakitskii V.N., Tsatsakis A., Spandidos D.A., Gozes I., Mitsias P.D., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2019)
      Α number of genetic variants have been associated with Alzheimer’s disease (AD) susceptibility. Sec1 family domain-containing protein 1 (SCFD1) gene polymorphism rs10139154 has recently been implicated in the risk of ...

    • Does the CD33 rs3865444 Polymorphism Confer Susceptibility to Alzheimer’s Disease? 

      Siokas V., Aslanidou P., Aloizou A.-M., Peristeri E., Stamati P., Liampas I., Arseniou S., Drakoulis N., Aschner M., Tsatsakis A., Mitsias P.D., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)
      Alzheimer’s disease (AD) is a complex genetic disorder. To date, published data have reported conflicting results on the role of CD33 rs3865444 polymorphism in AD. The present study aimed at evaluating the effect of rs3865444 ...

    • Effect of integrin AV and B8 gene polymorphisms in patients with traumatic brain injury 

      Dardiotis E., Siokas V., Aloizou A.-M., Karampinis E., Brotis A.G., Grigoriadis S., Paterakis K., Dardioti M., Komnos A., Kapsalaki E., Fountas K., Hadjigeorgiou G.M. (2019)
      Background: Α few genetic variants are associated with the outcome after traumatic brain injury (TBI). Integrins are glycoprotein receptors that play an important role in the integrity of microvasculature of the brain. ...

    • Embryological results of couples undergoing ICSI-ET treatments with males carrying the single nucleotide polymorphism rs175080 of the MLH3 gene 

      Anifandis G., Markandona O., Dafopoulos K., Messini C., Tsezou A., Dimitraki M., Georgoulias P., Daponte A., Messinis I. (2017)
      Human MLH3 (hMLH3) gene has been suggested to play a role in the DNA mismatch repair mechanism, while it may also be associated with abnormal spermatogenesis and subsequently male infertility. The aim of the present study ...

    • Enhanced expression of miR-21 and miR-150 is a feature of anti-mitochondrial antibody-negative primary biliary cholangitis 

      Wasik U., Kempinska-Podhorodecka A., Bogdanos D.P., Milkiewicz P., Milkiewicz M. (2020)
      Background & Aims: Anti-mitochondrial-autoantibodies (AMA) remain a hallmark of Primary Biliary Cholangitis (PBC) however approximately 10% of patients test negative for these antibodies. They do not differ in terms of ...

    • ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population 

      Dardiotis E., Karampinis E., Siokas V., Aloizou A.-M., Rikos D., Ralli S., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M. (2019)
      Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect ...

    • Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept 

      Ferreiro-Iglesias A., Montes A., Perez-Pampin E., Cañete J.D., Raya E., Magro-Checa C., Vasilopoulos Y., Caliz R., Ferrer M.A., Joven B., Carreira P., Balsa A., Salcedo D.P., Blanco F.J., Moreno-Ramos M.J., Manrique-Arija S., Del Carmen Ordonez M., Alegre-Sancho J.J., Narvaez J., Navarro-Sarabia F., Moreira V., Valor L., Garcia-Portales R., Marquez A., Gomez-Reino J.J., Martin J., Gonzalez A. (2019)
      Research in rheumatoid arthritis (RA) is increasingly focused on the discovery of biomarkers that could enable personalized treatments. The genetic biomarkers associated with the response to TNF inhibitors (TNFi) are among ...

    • FCGR3A-V158F polymorphism is a disease-specific pharmacogenetic marker for the treatment of psoriasis with Fc-containing TNFα inhibitors 

      Mendrinou E., Patsatsi A., Zafiriou E., Papadopoulou D., Aggelou L., Sarri C., Mamuris Z., Kyriakou A., Sotiriadis D., Roussaki-Schulze A., Sarafidou T., Vasilopoulos Y. (2017)
      Psoriasis is a multifactorial skin disease affecting ∼2% of world's population, causing a dramatic decrease in patients' quality of life and a significant increase in health-care expenses. Biological agents such as the ...

    • Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis 

      Müller T., Alberts R., De Vries E.M.G., Goode E.C., Jiang X., Sampaziotis F., Rombouts K., Böttcher K., Folseraas T., Weismüller T.J., Mason A.L., Wang W., Alexander G., Alvaro D., Bergquist A., Björkström N.K., Beuers U., Björnsson E., Boberg K.M., Bowlus C.L., Bragazzi M.C., Carbone M., Chazouillères O., Cheung A., Dalekos G., Eaton J., Eksteen B., Ellinghaus D., Färkkilä M., Festen E.A.M., Floreani A., Franceschet I., Gotthardt D.N., Hirschfield G.M., Hoek B.V., Holm K., Hohenester S., Hov J.R., Imhann F., Invernizzi P., Juran B.D., Lenzen H., Lieb W., Liu J.Z., Marschall H.-U., Marzioni M., Melum E., Milkiewicz P., Pares A., Rupp C., Rust C., Sandford R.N., Schramm C., Schreiber S., Schrumpf E., Silverberg M.S., Srivastava B., Sterneck M., Teufel A., Vallier L., Verheij J., Vila A.V., De Vries B., Zachou K., Chapman R.W., Manns M.P., Pinzani M., Rushbrook S.M., Lazaridis K.N., Franke A., Anderson C.A., Karlsen T.H., Ponsioen C.Y., Weersma R.K. (2018)
      Objective Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic ...

    • Genetic determinants of C1 inhibitor deficiency angioedema age of onset 

      Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)
      Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...

    • Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: A case control study 

      Pavlidou E., Daponte A., Egea R., Dardiotis E., Hadjigeorgiou G.M., Barbadilla A., Agorastos T. (2016)
      Background: The aim of the study was to evaluate the association of two SNPs of EVER1/2 genes' region (rs2290907, rs16970849) and the FAS-670 polymorphism with the susceptibility to precancerous lesions and cervical cancer ...

    • Genetic risk factors for essential tremor: A review 

      Siokas V., Aloizou A.-M., Tsouris Z., Liampas I., Aslanidou P., Dastamani M., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)
      Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ...

    • Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci 

      Reppe S., Wang Y., Thompson W.K., McEvoy L.K., Schork A.J., Zuber V., LeBlanc M., Bettella F., Mills I.G., Desikan R.S., Djurovic S., Gautvik K.M., Dale A.M., Andreassen O.A., Estrada K., Styrkarsdottir U., Evangelou E., Hsu Y.-H., Duncan E.L., Ntzani E.E., Oei L., Albagha O.M.E., Amin N., Kemp J.P., Koller D.L., Li G., Liu C.-T., Minster R.L., Moayyeri A., Vandenput L., Willner D., Xiao S.-M., Yerges-Armstrong L.M., Zheng H.-F., Alonso N., Eriksson J., Kammerer C.M., Kaptoge S.K., Leo P.J., Thorleifsson G., Wilson S.G., Wilson J.F., Aalto V., Alen M., Aragaki A.K., Aspelund T., Center J.R., Dailiana Z., Duggan D.J., Garcia M., Garcia-Giralt N., Giroux S., Hallmans G., Hocking L.J., Husted L.B., Jameson K.A., Khusainova R., Kim G.S., Kooperberg C., Koromila T., Kruk M., Laaksonen M., Lacroix A.Z., Lee S.H., Leung P.C., Lewis J.R., Masi L., Mencej-Bedrac S., Nguyen T.V., Nogues X., Patel M.S., Prezelj J., Rose L.M., Scollen S., Siggeirsdottir K., Smith A.V., Svensson O., Trompet S., Trummer O., Van Schoor N.M., Woo J., Zhu K., Balcells S., Brandi M.L., Buckley B.M., Cheng S., Christiansen C., Cooper C., Dedoussis G., Ford I., Frost M., Goltzman D., González-Macías J., Kähönen M., Karlsson M., Khusnutdinova E., Koh J.-M., Kollia P., Langdahl B.L., Leslie W.D., Lips P., Ljunggren Ö., Lorenc R.S., Marc J., Mellström D., Obermayer-Pietsch B., Olmos J.M., Pettersson-Kymmer U., Reid D.M., Riancho J.A., Ridker P.M., Rousseau F., Slagboom P.E., Tang N.L.S., Urreizti R., Van Hul W., Viikari J., Zarrabeitia M.T., Aulchenko Y.S., Castano-Betancourt M., Grundberg E., Herrera L., Ingvarsson T., Johannsdottir H., Kwan T., Li R., Luben R., Medina-Gómez C., Palsson S.Th., Rotter J.I., Sigurdsson G., Van Meurs J.B.J., Verlaan D., Williams F.M.K., Wood A.R., Zhou Y., Pastinen T., Raychaudhuri S., Cauley J.A., Chasman D.I., Clark G.R., Cummings S.R., Danoy P., Dennison E.M., Eastell R., Eisman J.A., Gudnason V., Hofman A., Jackson R.D., Jones G., Jukema J.W., Khaw K.-T., Lehtimäki T., Liu Y., Lorentzon M., McCloskey E., Mitchell B.D., Nandakumar K., Nicholson G.C., Oostra B.A., Peacock M., Pols H.A.P., Prince R.L., Raitakari O., Reid I.R., Robbins J., Sambrook P.N., Sham P.C., Shuldiner A.R., Tylavsky F.A., Van Duijn C.M., Wareham N.J., Cupples L.A., Econs M.J., Evans D.M., Harris T.B., Kung A.W.C., Psaty B.M., Reeve J., Spector T.D., Streeten E.A., Zillikens M.C., Thorsteinsdottir U., Ohlsson C., Karasik D., Richards J.B., Brown M.A., Stefansson K., Uitterlinden A.G., Ralston S.H., Ioannidis J.P.A., Kiel D.P., Rivadeneira F., GEFOS Consortium (2015)
      Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, ...

    • Genetic variants in complement pathway and ARMS2/HTRA1 genes and risk of age-related macular degeneration in a homogeneous population from central Greece 

      Tsiloulis A.N., Zacharaki F., Kotoula M.G., Chatzoulis D.Z., Morrison M.A., Mayne K., Dardiotis E., Stefanidis I.L., Almpanidou P., DeAngelis M.M., Tsironi E.E. (2016)
      [No abstract available]

    • Genetic variation in Wnt/β-catenin and ER signalling pathways in female and male elite dancers and its associations with low bone mineral density: a cross-section and longitudinal study 

      Amorim T., Durães C., Machado J.C., Metsios G.S., Wyon M., Maia J., Flouris A.D., Marques F., Nogueira L., Adubeiro N., Koutedakis Y. (2018)
      Summary: The association of genetic polymorphisms with low bone mineral density in elite athletes have not been considered previously. The present study found that bone mass phenotypes in elite and pre-elite dancers are ...

    • Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture 

      Chia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Center (2021)
      The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this ...

    • Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 

      Grover S., Sreelatha A.A.K., Pihlstrom L., Domenighetti C., Schulte C., Sugier P.-E., Radivojkov-Blagojevic M., Lichtner P., Mohamed O., Portugal B., Landoulsi Z., May P., Bobbili D., Edsall C., Bartusch F., Hanussek M., Krüger J., Hernandez D.G., Blauwendraat C., Mellick G.D., Zimprich A., Pirker W., Tan M., Rogaeva E., Lang A., Koks S., Taba P., Lesage S., Brice A., Corvol J.-C., Chartier-Harlin M.-C., Mutez E., Brockmann K., Deutschländer A.B., Hadjigeorgiou G.M., Dardiotis E., Stefanis L., Simitsi A.M., Valente E.M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Burbulla L.F., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S.J., Kim Y.J., Pavelka L., Van De Warrenburg B.P.C., Bloem B.R., Singleton A.B., Aasly J., Toft M., Guedes L.C., Ferreira J.J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N.L., Ran C., Belin A.C., Puschmann A., Hellberg C., Clarke C.E., Morrison K.E., Krainc D., Farrer M.J., Kruger R., Elbaz A., Gasser T., Sharma M. (2022)
      Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication ...

    • 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 ...

    • Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population 

      Kyrgiafini M.-A., Markantoni M., Sarafidou T., Chatziparasidou A., Christoforidis N., Mamuris Z. (2020)
      Background: Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they ...

    • Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays 

      Michailidou S., Tsangaris G., Fthenakis G.C., Tzora A., Skoufos I., Karkabounas S.C., Banos G., Argiriou A., Arsenos G. (2018)
      In the present study, genome-wide genotyping was applied to characterize the genetic diversity and population structure of three autochthonous Greek breeds: Boutsko, Karagouniko and Chios. Dairy sheep are among the most ...