• 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 ...
    • 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 ...
    • 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 ...
    • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants 

      Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., ELee K., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Von Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C.A., Mohand-Sa'd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Jr., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Van Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Den Hollander A.I., Fauser S., WYates J.R., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M. (2016)
      Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, ...
    • Phenotypic characterization and quality traits of Greek garlic (Allium sativum L.) germplasm cultivated at two different locations 

      Polyzos N., Papasotiropoulos V., Lamari F.N., Petropoulos S.A., Bebeli P.J. (2019)
      In the present study, we examined the phenotypic diversity of Greek garlic (Allium sativum L.) genotypes using morphological descriptors derived from IPGRI and UPOV. Thirty-four garlic genotypes were cultivated at two ...