Todo DSpace

Listar por tema "gene locus"

Mostrando ítems 1-20 de 37

    • Assessment of TREM2 rs75932628 variant’s association with Parkinson’s disease in a Greek population and Meta-analysis of current data 

      Dardiotis E., Rikos D., Siokas V., Aloizou A.-M., Tsouris Z., Sakalakis E., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M. (2021)
      Background: Α number of genetic variants are considered to confer susceptibility to Parkinson’s disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting. ...

    • Association between 9p21–23 Locus and Frailty in a Community-Dwelling Greek Population: Results from the Hellenic Longitudinal Investigation of Ageing and Diet 

      Mourtzi N., Hatzimanolis A., Xiromerisiou G., Ntanasi E., Georgakis M.K., Ramirez A., Heilmann-Heimbach S., Grenier-Boley B., Lambert J.C., Yannakoulia M., Kosmidis M., Dardiotis E., Hadjigeorgiou G., Sakka P., Scarmeas N. (2022)
      Background: Frailty is a complex geriatric syndrome arising from a combination of genetic and environmental factors and is associated with adverse health outcomes and mortality. A recent study reported an association between ...

    • Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report 

      Orru S., Papoulidis I., Siomou E., Papadimitriou D.T., Sotiriou S., Nikolaidis P., Eleftheriades M., Papanikolaou E., Thomaidis L., Manolakos E. (2019)
      In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ...

    • Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus 

      Medina-Gomez C., Kemp J.P., Dimou N.L., Kreiner E., Chesi A., Zemel B.S., Bønnelykke K., Boer C.G., Ahluwalia T.S., Bisgaard H., Evangelou E., Heppe D.H.M., Bonewald L.F., Gorski J.P., Ghanbari M., Demissie S., Duque G., Maurano M.T., Kiel D.P., Hsu Y.-H., Van Der Eerden B.C.J., Ackert-Bicknell C., Reppe S., Gautvik K.M., Raastad T., Karasik D., Van De Peppel J., Jaddoe V.W.V., Uitterlinden A.G., Tobias J.H., Grant S.F.A., Bagos P.G., Evans D.M., Rivadeneira F. (2017)
      Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS ...

    • Cadherin and Wnt signaling pathways as key regulators in diabetic nephropathy 

      Tziastoudi M., Tsezou A., Stefanidis I. (2021)
      Aim A recent meta-analysis of genome-wide linkage studies (GWLS) has identified multiple genetic regions suggestive of linkage with DN harboring hundreds of genes. Moving this number of genetic loci forward into biological ...

    • 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 ...

    • 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). ...

    • Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations 

      Boer C.G., Hatzikotoulas K., Southam L., Stefánsdóttir L., Zhang Y., Coutinho de Almeida R., Wu T.T., Zheng J., Hartley A., Teder-Laving M., Skogholt A.H., Terao C., Zengini E., Alexiadis G., Barysenka A., Bjornsdottir G., Gabrielsen M.E., Gilly A., Ingvarsson T., Johnsen M.B., Jonsson H., Kloppenburg M., Luetge A., Lund S.H., Mägi R., Mangino M., Nelissen R.R.G.H.H., Shivakumar M., Steinberg J., Takuwa H., Thomas L.F., Tuerlings M., Loughlin J., Arden N., Birrell F., Carr A., Deloukas P., Doherty M., McCaskie A.W., Ollier W.E.R., Rai A., Ralston S.H., Spector T.D., Wallis G.A., Martinsen A.E., Willer C., Fors E.A., Mundal I., Hagen K., Nilsen K.B., Lie M.U., Børte S., Brumpton B., Nielsen J.B., Fritsche L.G., Zhou W., Heuch I., Storheim K., Tyrpenou E., Koukakis A., Chytas D., Evangelopoulos D.S., Efstathios C., Pneumaticos S., Nikolaou V.S., Malizos K., Anastasopoulou L., Abecasis G., Baras A., Cantor M., Coppola G., Deubler A., Economides A., Lotta L.A., Overton J.D., Reid J.G., Shuldiner A., Karalis K., Siminovitch K., Beechert C., Forsythe C., Fuller E.D., Gu Z., Lattari M., Lopez A., Schleicher T.D., Padilla M.S., Widom L., Wolf S.E., Pradhan M., Manoochehri K., Bai X., Balasubramanian S., Boutkov B., Eom G., Habegger L., Hawes A., Krasheninina O., Lanche R., Mansfield A.J., Maxwell E.K., Nafde M., O'Keeffe S., Orelus M., Panea R., Polanco T., Rasool A., Salerno W., Staples J.C., Li D., Sharma D., Banerjee I., Bovijn J., Locke A., Verweij N., Haas M., Hindy G., De T., Akbari P., Sosina O., Ferreira M.A.R., Jones M.B., Mighty J., LeBlanc M.G., Mitnaul L.J., Babis G.C., Cheung J.P.Y., Kang J.H., Kraft P., Lietman S.A., Samartzis D., Slagboom P.E., Stefansson K., Thorsteinsdottir U., Tobias J.H., Uitterlinden A.G., Winsvold B., Zwart J.-A., Davey Smith G., Sham P.C., Thorleifsson G., Gaunt T.R., Morris A.P., Valdes A.M., Tsezou A., Cheah K.S.E., Ikegawa S., Hveem K., Esko T., Wilkinson J.M., Meulenbelt I., Lee M.T.M., van Meurs J.B.J., Styrkársdóttir U., Zeggini E., arcOGEN Consortium, HUNT All-In Pain, ARGO Consortium, Regeneron Genetics Center (2021)
      Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ...

    • Emergence of a mupirocin-resistant, methicillin-susceptible Staphylococcus aureus clone associated with skin and soft tissue infections in Greece 

      Giormezis N., Doudoulakakis A., Tsilipounidaki K., Militsopoulou M., Kalogeras G., Stamouli V., Kolonitsiou F., Petinaki E., Lebessi E., Spiliopoulou I. (2021)
      Background: Staphylococcus aureus causes various infections, including skin and soft tissue infections (SSTIs). In this study, methicillin-susceptible S. aureus (MSSA) from SSTIs among patients in three tertiary-care ...

    • Emm Types and clusters and macrolide resistance of pediatric group A streptococcal isolates in Central Greece during 2011-2017 

      Grivea I.N., Syrogiannopoulos G.A., Michoula A.N., Gazeti G., Malli E., Tsilipounidaki K., Fouzas S., Anthracopoulos M.B., Petinaki E. (2020)
      Background The surveillance of emm types and macrolide susceptibility of group A streptococcus (GAS) in various areas and time periods enhances the understanding of the epidemiology of GAS infections and may guide treatment ...

    • 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 ...

    • Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study 

      Wang L., Heckman M.G., Aasly J.O., Annesi G., Bozi M., Chung S.J., Clarke C., Crosiers D., Eckstein G., Garraux G., Hadjigeorgiou G.M., Hattori N., Jeon B., Kim Y.J., Kubo M., Lesage S., Lin J.J., Lynch T., Lichtner P., Mellick G.D., Mok V., Morrison K.E., Quattrone A., Satake W., Silburn P.A., Stefanis L., Stockton J.D., Tan E.K., Toda T., Brice A., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Maraganore D.M., Gasser T., Krüger R., Farrer M.J., Ross O.A., Sharma M. (2017)
      A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 ...

    • Genetic contribution of MHC class II genes in susceptibility to west nile virus infection 

      Sarri C.A., Markantoni M., Stamatis C., Papa A., Tsakris A., Pervanidou D., Baka A., Politis C., Billinis C., Hadjichristodoulou C., Mamuris Z. (2016)
      WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe ...

    • 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, ...

    • 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 ...

    • 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 ...

    • Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis 

      Schormair B., Zhao C., Bell S., Tilch E., Salminen A.V., Pütz B., Dauvilliers Y., Stefani A., Högl B., Poewe W., Kemlink D., Sonka K., Bachmann C.G., Paulus W., Trenkwalder C., Oertel W.H., Hornyak M., Teder-Laving M., Metspalu A., Hadjigeorgiou G.M., Polo O., Fietze I., Ross O.A., Wszolek Z., Butterworth A.S., Soranzo N., Ouwehand W.H., Roberts D.J., Danesh J., Allen R.P., Earley C.J., Ondo W.G., Xiong L., Montplaisir J., Gan-Or Z., Perola M., Vodicka P., Dina C., Franke A., Tittmann L., Stewart A.F.R., Shah S.H., Gieger C., Peters A., Rouleau G.A., Berger K., Oexle K., Di Angelantonio E., Hinds D.A., Müller-Myhsok B., Winkelmann J., Balkau B., Ducimetière P., Eschwège E., Rancière F., Alhenc-Gelas F., Gallois Y., Girault A., Fumeron F., Marre M., Roussel R., Bonnet F., Bonnefond A., Cauchi S., Froguel P., Cogneau J., Born C., Caces E., Cailleau M., Lantieri O., Moreau J.G., Rakotozafy F., Tichet J., Vol S., Agee M., Alipanahi B., Auton A., Bell R.K., Bryc K., Elson S.L., Fontanillas P., Furlotte N.A., Hinds D.A., Hromatka B.S., Huber K.E., Kleinman A., Litterman N.K., McIntyre M.H., Mountain J.L., Northover C.A., Pitts S.J., Sathirapongsasuti J.F., Sazonova O.V., Shelton J.F., Shringarpure S., Tian C., Tung J.Y., Vacic V., Wilson C.H., 23andMe Research Team, DESIR study group, 23andMe Research Team, DESIR study group, DESIR study group, DESIR study group (2017)
      Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve ...

    • Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases 

      Hadzidimitriou, A.; Stamatopoulos, K.; Belessi, C.; Lalayianni, C.; Stavroyianni, N.; Smilevska, T.; Hatzi, K.; Laoutaris, N.; Anagnostopoulos, A.; Kollia, P.; Fassas, A. (2006)
      Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH ...

    • Insecticide resistance status of Myzus persicae in Greece: Long-term surveys and new diagnostics for resistance mechanisms 

      Voudouris C.C., Kati A.N., Sadikoglou E., Williamson M., Skouras P.J., Dimotsiou O., Georgiou S., Fenton B., Skavdis G., Margaritopoulos J.T. (2016)
      BACKGROUND: Myzus persicae nicotianae is an important pest in Greece, controlled mainly by neonicotinoids. Monitoring of the aphid populations for resistance mechanisms is essential for effective control. RESULTS: Two new ...