TY  - JOUR
A1  - Taal, H. Rob
A1  - St Pourcain, Beate
A1  - Thiering, Elisabeth
A1  - Das, Shikta
A1  - Mook-Kanamori, Dennis O.
A1  - Warrington, Nicole M.
A1  - Kaakinen, Marika
A1  - Kreiner-Moller, Eskil
A1  - Bradfield, Jonathan P.
A1  - Freathy, Rachel M.
A1  - Geller, Frank
A1  - Guxens, Monica
A1  - Cousminer, Diana L.
A1  - Kerkhof, Marjan
A1  - Timpson, Nicholas J.
A1  - Ikram, M. Arfan
A1  - Beilin, Lawrence J.
A1  - Bonnelykke, Klaus
A1  - Buxton, Jessica L.
A1  - Charoen, Pimphen
A1  - Chawes, Bo Lund Krogsgaard
A1  - Eriksson, Johan
A1  - Evans, David M.
A1  - Hofman, Albert
A1  - Kemp, John P.
A1  - Kim, Cecilia E.
A1  - Klopp, Norman
A1  - Lahti, Jari
A1  - Lye, Stephen J.
A1  - McMahon, George
A1  - Mentch, Frank D.
A1  - Mueller-Nurasyid, Martina
A1  - O'Reilly, Paul F.
A1  - Prokopenko, Inga
A1  - Rivadeneira, Fernando
A1  - Steegers, Eric A. P.
A1  - Sunyer, Jordi
A1  - Tiesler, Carla
A1  - Yaghootkar, Hanieh
A1  - Breteler, Monique M. B.
A1  - Debette, Stephanie
A1  - Fornage, Myriam
A1  - Gudnason, Vilmundur
A1  - Launer, Lenore J.
A1  - van der Lugt, Aad
A1  - Mosley, Thomas H.
A1  - Seshadri, Sudha
A1  - Smith, Albert V.
A1  - Vernooij, Meike W.
A1  - Blakemore, Alexandra I. F.
A1  - Chiavacci, Rosetta M.
A1  - Feenstra, Bjarke
A1  - Fernandez-Banet, Julio
A1  - Grant, Struan F. A.
A1  - Hartikainen, Anna-Liisa
A1  - van der Heijden, Albert J.
A1  - Iniguez, Carmen
A1  - Lathrop, Mark
A1  - McArdle, Wendy L.
A1  - Molgaard, Anne
A1  - Newnham, John P.
A1  - Palmer, Lyle J.
A1  - Palotie, Aarno
A1  - Pouta, Annneli
A1  - Ring, Susan M.
A1  - Sovio, Ulla
A1  - Standl, Marie
A1  - Uitterlinden, Andre G.
A1  - Wichmann, H-Erich
A1  - Vissing, Nadja Hawwa
A1  - DeCarli, Charles
A1  - van Duijn, Cornelia M.
A1  - McCarthy, Mark I.
A1  - Koppelman, Gerard H.
A1  - Estivill, Xavier
A1  - Hattersley, Andrew T.
A1  - Melbye, Mads
A1  - Bisgaard, Hans
A1  - Pennell, Craig E.
A1  - Widen, Elisabeth
A1  - Hakonarson, Hakon
A1  - Smith, George Davey
A1  - Heinrich, Joachim
A1  - Jarvelin, Marjo-Riitta
A1  - Jaddoe, Vincent W. V.
A1  - Adair, Linda S.
A1  - Ang, Wei
A1  - Atalay, Mustafa
A1  - van Beijsterveldt, Toos
A1  - Bergen, Nienke
A1  - Benke, Kelly
A1  - Berry, Diane J.
A1  - Bradfield, Jonathan P.
A1  - Charoen, Pimphen
A1  - Coin, Lachlan
A1  - Cousminer, Diana L.
A1  - Das, Shikta
A1  - Davis, Oliver S. P.
A1  - Elliott, Paul
A1  - Evans, David M.
A1  - Feenstra, Bjarke
A1  - Flexeder, Claudia
A1  - Frayling, Tim
A1  - Freathy, Rachel M.
A1  - Gaillard, Romy
A1  - Geller, Frank
A1  - Groen-Blokhuis, Maria
A1  - Goh, Liang-Kee
A1  - Guxens, Monica
A1  - Haworth, Claire M. A.
A1  - Hadley, Dexter
A1  - Hebebrand, Johannes
A1  - Hinney, Anke
A1  - Hirschhorn, Joel N.
A1  - Holloway, John W.
A1  - Holst, Claus
A1  - Hottenga, Jouke Jan
A1  - Horikoshi, Momoko
A1  - Huikari, Ville
A1  - Hypponen, Elina
A1  - Iniguez, Carmen
A1  - Kaakinen, Marika
A1  - Kilpelainen, Tuomas O.
A1  - Kirin, Mirna
A1  - Kowgier, Matthew
A1  - Lakka, Hanna-Maaria
A1  - Lange, Leslie A.
A1  - Lawlor, Debbie A.
A1  - Lehtimaki, Terho
A1  - Lewin, Alex
A1  - Lindgren, Cecilia
A1  - Lindi, Virpi
A1  - Maggi, Reedik
A1  - Marsh, Julie
A1  - Middeldorp, Christel
A1  - Millwood, Iona
A1  - Mook-Kanamori, Dennis O.
A1  - Murray, Jeffrey C.
A1  - Nivard, Michel
A1  - Nohr, Ellen Aagaard
A1  - Ntalla, Ioanna
A1  - Oken, Emily
A1  - O'Reilly, Paul F.
A1  - Palmer, Lyle J.
A1  - Panoutsopoulou, Kalliope
A1  - Pararajasingham, Jennifer
A1  - Prokopenko, Inga
A1  - Rodriguez, Alina
A1  - Salem, Rany M.
A1  - Sebert, Sylvain
A1  - Siitonen, Niina
A1  - Sovio, Ulla
A1  - St Pourcain, Beate
A1  - Strachan, David P.
A1  - Sunyer, Jordi
A1  - Taal, H. Rob
A1  - Teo, Yik-Ying
A1  - Thiering, Elisabeth
A1  - Tiesler, Carla
A1  - Uitterlinden, Andre G.
A1  - Valcarcel, Beatriz
A1  - Warrington, Nicole M.
A1  - White, Scott
A1  - Willemsen, Gonneke
A1  - Yaghootkar, Hanieh
A1  - Zeggini, Eleftheria
A1  - Boomsma, Dorret I.
A1  - Cooper, Cyrus
A1  - Estivill, Xavier
A1  - Gillman, Matthew
A1  - Grant, Struan F. A.
A1  - Hakonarson, Hakon
A1  - Hattersley, Andrew T.
A1  - Heinrich, Joachim
A1  - Hocher, Berthold
A1  - Jaddoe, Vincent W. V.
A1  - Jarvelin, Marjo-Riitta
A1  - Lakka, Timo A.
A1  - McCarthy, Mark I.
A1  - Melbye, Mads
A1  - Mohlke, Karen L.
A1  - Dedoussis, George V.
A1  - Ong, Ken K.
A1  - Pearson, Ewan R.
A1  - Pennell, Craig E.
A1  - Price, Thomas S.
A1  - Power, Chris
A1  - Raitakari, Olli T.
A1  - Saw, Seang-Mei
A1  - Scherag, Andre
A1  - Simell, Olli
A1  - Sorensen, Thorkild I. A.
A1  - Timpson, Nicholas J.
A1  - Widen, Elisabeth
A1  - Wilson, James F.
A1  - Ang, Wei
A1  - van Beijsterveldt, Toos
A1  - Bergen, Nienke
A1  - Benke, Kelly
A1  - Berry, Diane J.
A1  - Bradfield, Jonathan P.
A1  - Charoen, Pimphen
A1  - Coin, Lachlan
A1  - Cousminer, Diana L.
A1  - Das, Shikta
A1  - Elliott, Paul
A1  - Evans, David M.
A1  - Frayling, Tim
A1  - Freathy, Rachel M.
A1  - Gaillard, Romy
A1  - Groen-Blokhuis, Maria
A1  - Guxens, Monica
A1  - Hadley, Dexter
A1  - Hottenga, Jouke Jan
A1  - Huikari, Ville
A1  - Hypponen, Elina
A1  - Kaakinen, Marika
A1  - Kowgier, Matthew
A1  - Lawlor, Debbie A.
A1  - Lewin, Alex
A1  - Lindgren, Cecilia
A1  - Marsh, Julie
A1  - Middeldorp, Christel
A1  - Millwood, Iona
A1  - Mook-Kanamori, Dennis O.
A1  - Nivard, Michel
A1  - O'Reilly, Paul F.
A1  - Palmer, Lyle J.
A1  - Prokopenko, Inga
A1  - Rodriguez, Alina
A1  - Sebert, Sylvain
A1  - Sovio, Ulla
A1  - St Pourcain, Beate
A1  - Standl, Marie
A1  - Strachan, David P.
A1  - Sunyer, Jordi
A1  - Taal, H. Rob
A1  - Thiering, Elisabeth
A1  - Tiesler, Carla
A1  - Uitterlinden, Andre G.
A1  - Valcarcel, Beatriz
A1  - Warrington, Nicole M.
A1  - White, Scott
A1  - Willemsen, Gonneke
A1  - Yaghootkar, Hanieh
A1  - Boomsma, Dorret I.
A1  - Estivill, Xavier
A1  - Grant, Struan F. A.
A1  - Hakonarson, Hakon
A1  - Hattersley, Andrew T.
A1  - Heinrich, Joachim
A1  - Jaddoe, Vincent W. V.
A1  - Jarvelin, Marjo-Riitta
A1  - McCarthy, Mark I.
A1  - Pennell, Craig E.
A1  - Power, Chris
A1  - Timpson, Nicholas J.
A1  - Widen, Elisabeth
A1  - Ikram, M. Arfan
A1  - Fornage, Myriam
A1  - Smith, Albert V.
A1  - Seshadri, Sudha
A1  - Schmidt, Reinhold
A1  - Debette, Stephanie
A1  - Vrooman, Henri A.
A1  - Sigurdsson, Sigurdur
A1  - Ropele, Stefan
A1  - Coker, Laura H.
A1  - Longstreth, W. T.
A1  - Niessen, Wiro J.
A1  - DeStefano, Anita L.
A1  - Beiser, Alexa
A1  - Zijdenbos, Alex P.
A1  - Struchalin, Maksim
A1  - Jack, Clifford R.
A1  - Nalls, Mike A.
A1  - Au, Rhoda
A1  - Hofman, Albert
A1  - Gudnason, Haukur
A1  - van der Lugt, Aad
A1  - Harris, Tamara B.
A1  - Meeks, William M.
A1  - Vernooij, Meike W.
A1  - van Buchem, Mark A.
A1  - Catellier, Diane
A1  - Gudnason, Vilmundur
A1  - Windham, B. Gwen
A1  - Wolf, Philip A.
A1  - van Duijn, Cornelia M.
A1  - Mosley, Thomas H.
A1  - Schmidt, Helena
A1  - Launer, Lenore J.
A1  - Breteler, Monique M. B.
A1  - DeCarli, Charles
T1  - Common variants at 12q15 and 12q24 are associated with infant head circumference
JF  - Nature genetics
N2  - To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
Y1  - 2012
U6  - https://doi.org/10.1038/ng.2238
SN  - 1061-4036
VL  - 44
IS  - 5
SP  - 532
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Ikram, M. Arfan
A1  - Fornage, Myriam
A1  - Smith, Albert V.
A1  - Seshadri, Sudha
A1  - Schmidt, Reinhold
A1  - Debette, Stephanie
A1  - Vrooman, Henri A.
A1  - Sigurdsson, Sigurdur
A1  - Ropele, Stefan
A1  - Taal, H. Rob
A1  - Mook-Kanamori, Dennis O.
A1  - Coker, Laura H.
A1  - Longstreth, W. T.
A1  - Niessen, Wiro J.
A1  - DeStefano, Anita L.
A1  - Beiser, Alexa
A1  - Zijdenbos, Alex P.
A1  - Struchalin, Maksim
A1  - Jack, Clifford R.
A1  - Rivadeneira, Fernando
A1  - Uitterlinden, Andre G.
A1  - Knopman, David S.
A1  - Hartikainen, Anna-Liisa
A1  - Pennell, Craig E.
A1  - Thiering, Elisabeth
A1  - Steegers, Eric A. P.
A1  - Hakonarson, Hakon
A1  - Heinrich, Joachim
A1  - Palmer, Lyle J.
A1  - Jarvelin, Marjo-Riitta
A1  - McCarthy, Mark I.
A1  - Grant, Struan F. A.
A1  - St Pourcain, Beate
A1  - Timpson, Nicholas J.
A1  - Smith, George Davey
A1  - Sovio, Ulla
A1  - Nalls, Mike A.
A1  - Au, Rhoda
A1  - Hofman, Albert
A1  - Gudnason, Haukur
A1  - van der Lugt, Aad
A1  - Harris, Tamara B.
A1  - Meeks, William M.
A1  - Vernooij, Meike W.
A1  - van Buchem, Mark A.
A1  - Catellier, Diane
A1  - Jaddoe, Vincent W. V.
A1  - Gudnason, Vilmundur
A1  - Windham, B. Gwen
A1  - Wolf, Philip A.
A1  - van Duijn, Cornelia M.
A1  - Mosley, Thomas H.
A1  - Schmidt, Helena
A1  - Launer, Lenore J.
A1  - Breteler, Monique M. B.
A1  - DeCarli, Charles
A1  - Adair, Linda S.
A1  - Ang, Wei
A1  - Atalay, Mustafa
A1  - vanBeijsterveldt, Toos
A1  - Bergen, Nienke
A1  - Benke, Kelly
A1  - Berry, Diane J.
A1  - Coin, Lachlan
A1  - Davis, Oliver S. P.
A1  - Elliott, Paul
A1  - Flexeder, Claudia
A1  - Frayling, Tim
A1  - Gaillard, Romy
A1  - Groen-Blokhuis, Maria
A1  - Goh, Liang-Kee
A1  - Haworth, Claire M. A.
A1  - Hadley, Dexter
A1  - Hebebrand, Johannes
A1  - Hinney, Anke
A1  - Hirschhorn, Joel N.
A1  - Holloway, John W.
A1  - Holst, Claus
A1  - Hottenga, Jouke Jan
A1  - Horikoshi, Momoko
A1  - Huikari, Ville
A1  - Hypponen, Elina
A1  - Kilpelainen, Tuomas O.
A1  - Kirin, Mirna
A1  - Kowgier, Matthew
A1  - Lakka, Hanna-Maaria
A1  - Lange, Leslie A.
A1  - Lawlor, Debbie A.
A1  - Lehtimaki, Terho
A1  - Lewin, Alex
A1  - Lindgren, Cecilia
A1  - Lindi, Virpi
A1  - Maggi, Reedik
A1  - Marsh, Julie
A1  - Middeldorp, Christel
A1  - Millwood, Iona
A1  - Murray, Jeffrey C.
A1  - Nivard, Michel
A1  - Nohr, Ellen Aagaard
A1  - Ntalla, Ioanna
A1  - Oken, Emily
A1  - Panoutsopoulou, Kalliope
A1  - Pararajasingham, Jennifer
A1  - Rodriguez, Alina
A1  - Salem, Rany M.
A1  - Sebert, Sylvain
A1  - Siitonen, Niina
A1  - Strachan, David P.
A1  - Teo, Yik-Ying
A1  - Valcarcel, Beatriz
A1  - Willemsen, Gonneke
A1  - Zeggini, Eleftheria
A1  - Boomsma, Dorret I.
A1  - Cooper, Cyrus
A1  - Gillman, Matthew
A1  - Hocher, Berthold
A1  - Lakka, Timo A.
A1  - Mohlke, Karen L.
A1  - Dedoussis, George V.
A1  - Ong, Ken K.
A1  - Pearson, Ewan R.
A1  - Price, Thomas S.
A1  - Power, Chris
A1  - Raitakari, Olli T.
A1  - Saw, Seang-Mei
A1  - Scherag, Andre
A1  - Simell, Olli
A1  - Sorensen, Thorkild I. A.
A1  - Wilson, James F.
T1  - Common variants at 6q22 and 17q21 are associated with intracranial volume
JF  - Nature genetics
N2  - During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
Y1  - 2012
U6  - https://doi.org/10.1038/ng.2245
SN  - 1061-4036
VL  - 44
IS  - 5
SP  - 539
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - JOUR
A1  - Wuttke, Matthias
A1  - Li, Yong
A1  - Li, Man
A1  - Sieber, Karsten B.
A1  - Feitosa, Mary F.
A1  - Gorski, Mathias
A1  - Tin, Adrienne
A1  - Wang, Lihua
A1  - Chu, Audrey Y.
A1  - Hoppmann, Anselm
A1  - Kirsten, Holger
A1  - Giri, Ayush
A1  - Chai, Jin-Fang
A1  - Sveinbjornsson, Gardar
A1  - Tayo, Bamidele O.
A1  - Nutile, Teresa
A1  - Fuchsberger, Christian
A1  - Marten, Jonathan
A1  - Cocca, Massimiliano
A1  - Ghasemi, Sahar
A1  - Xu, Yizhe
A1  - Horn, Katrin
A1  - Noce, Damia
A1  - Van der Most, Peter J.
A1  - Sedaghat, Sanaz
A1  - Yu, Zhi
A1  - Akiyama, Masato
A1  - Afaq, Saima
A1  - Ahluwalia, Tarunveer Singh
A1  - Almgren, Peter
A1  - Amin, Najaf
A1  - Arnlov, Johan
A1  - Bakker, Stephan J. L.
A1  - Bansal, Nisha
A1  - Baptista, Daniela
A1  - Bergmann, Sven
A1  - Biggs, Mary L.
A1  - Biino, Ginevra
A1  - Boehnke, Michael
A1  - Boerwinkle, Eric
A1  - Boissel, Mathilde
A1  - Böttinger, Erwin
A1  - Boutin, Thibaud S.
A1  - Brenner, Hermann
A1  - Brumat, Marco
A1  - Burkhardt, Ralph
A1  - Butterworth, Adam S.
A1  - Campana, Eric
A1  - Campbell, Archie
A1  - Campbell, Harry
A1  - Canouil, Mickael
A1  - Carroll, Robert J.
A1  - Catamo, Eulalia
A1  - Chambers, John C.
A1  - Chee, Miao-Ling
A1  - Chee, Miao-Li
A1  - Chen, Xu
A1  - Cheng, Ching-Yu
A1  - Cheng, Yurong
A1  - Christensen, Kaare
A1  - Cifkova, Renata
A1  - Ciullo, Marina
A1  - Concas, Maria Pina
A1  - Cook, James P.
A1  - Coresh, Josef
A1  - Corre, Tanguy
A1  - Sala, Cinzia Felicita
A1  - Cusi, Daniele
A1  - Danesh, John
A1  - Daw, E. Warwick
A1  - De Borst, Martin H.
A1  - De Grandi, Alessandro
A1  - De Mutsert, Renee
A1  - De Vries, Aiko P. J.
A1  - Degenhardt, Frauke
A1  - Delgado, Graciela
A1  - Demirkan, Ayse
A1  - Di Angelantonio, Emanuele
A1  - Dittrich, Katalin
A1  - Divers, Jasmin
A1  - Dorajoo, Rajkumar
A1  - Eckardt, Kai-Uwe
A1  - Ehret, Georg
A1  - Elliott, Paul
A1  - Endlich, Karlhans
A1  - Evans, Michele K.
A1  - Felix, Janine F.
A1  - Foo, Valencia Hui Xian
A1  - Franco, Oscar H.
A1  - Franke, Andre
A1  - Freedman, Barry I.
A1  - Freitag-Wolf, Sandra
A1  - Friedlander, Yechiel
A1  - Froguel, Philippe
A1  - Gansevoort, Ron T.
A1  - Gao, He
A1  - Gasparini, Paolo
A1  - Gaziano, J. Michael
A1  - Giedraitis, Vilmantas
A1  - Gieger, Christian
A1  - Girotto, Giorgia
A1  - Giulianini, Franco
A1  - Gogele, Martin
A1  - Gordon, Scott D.
A1  - Gudbjartsson, Daniel F.
A1  - Gudnason, Vilmundur
A1  - Haller, Toomas
A1  - Hamet, Pavel
A1  - Harris, Tamara B.
A1  - Hartman, Catharina A.
A1  - Hayward, Caroline
A1  - Hellwege, Jacklyn N.
A1  - Heng, Chew-Kiat
A1  - Hicks, Andrew A.
A1  - Hofer, Edith
A1  - Huang, Wei
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Indridason, Olafur S.
A1  - Ingelsson, Erik
A1  - Ising, Marcus
A1  - Jaddoe, Vincent W. V.
A1  - Jakobsdottir, Johanna
A1  - Jonas, Jost B.
A1  - Joshi, Peter K.
A1  - Josyula, Navya Shilpa
A1  - Jung, Bettina
A1  - Kahonen, Mika
A1  - Kamatani, Yoichiro
A1  - Kammerer, Candace M.
A1  - Kanai, Masahiro
A1  - Kastarinen, Mika
A1  - Kerr, Shona M.
A1  - Khor, Chiea-Chuen
A1  - Kiess, Wieland
A1  - Kleber, Marcus E.
A1  - Koenig, Wolfgang
A1  - Kooner, Jaspal S.
A1  - Korner, Antje
A1  - Kovacs, Peter
A1  - Kraja, Aldi T.
A1  - Krajcoviechova, Alena
A1  - Kramer, Holly
A1  - Kramer, Bernhard K.
A1  - Kronenberg, Florian
A1  - Kubo, Michiaki
A1  - Kuhnel, Brigitte
A1  - Kuokkanen, Mikko
A1  - Kuusisto, Johanna
A1  - La Bianca, Martina
A1  - Laakso, Markku
A1  - Lange, Leslie A.
A1  - Langefeld, Carl D.
A1  - Lee, Jeannette Jen-Mai
A1  - Lehne, Benjamin
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Lim, Su-Chi
A1  - Lind, Lars
A1  - Lindgren, Cecilia M.
A1  - Liu, Jun
A1  - Liu, Jianjun
A1  - Loeffler, Markus
A1  - Loos, Ruth J. F.
A1  - Lucae, Susanne
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Magi, Reedik
A1  - Magnusson, Patrik K. E.
A1  - Mahajan, Anubha
A1  - Martin, Nicholas G.
A1  - Martins, Jade
A1  - Marz, Winfried
A1  - Mascalzoni, Deborah
A1  - Matsuda, Koichi
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Metspalu, Andres
A1  - Mikaelsdottir, Evgenia K.
A1  - Milaneschi, Yuri
A1  - Miliku, Kozeta
A1  - Mishra, Pashupati P.
A1  - Program, V. A. Million Veteran
A1  - Mohlke, Karen L.
A1  - Mononen, Nina
A1  - Montgomery, Grant W.
A1  - Mook-Kanamori, Dennis O.
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nalls, Mike A.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - Noordam, Raymond
A1  - Olafsson, Isleifur
A1  - Oldehinkel, Albertine J.
A1  - Orho-Melander, Marju
A1  - Ouwehand, Willem H.
A1  - Padmanabhan, Sandosh
A1  - Palmer, Nicholette D.
A1  - Palsson, Runolfur
A1  - Penninx, Brenda W. J. H.
A1  - Perls, Thomas
A1  - Perola, Markus
A1  - Pirastu, Mario
A1  - Pirastu, Nicola
A1  - Pistis, Giorgio
A1  - Podgornaia, Anna I.
A1  - Polasek, Ozren
A1  - Ponte, Belen
A1  - Porteous, David J.
A1  - Poulain, Tanja
A1  - Pramstaller, Peter P.
A1  - Preuss, Michael H.
A1  - Prins, Bram P.
A1  - Province, Michael A.
A1  - Rabelink, Ton J.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Reilly, Dermot F.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Ridker, Paul M.
A1  - Rivadeneira, Fernando
A1  - Rizzi, Federica
A1  - Roberts, David J.
A1  - Robino, Antonietta
A1  - Rossing, Peter
A1  - Rudan, Igor
A1  - Rueedi, Rico
A1  - Ruggiero, Daniela
A1  - Ryan, Kathleen A.
A1  - Saba, Yasaman
A1  - Sabanayagam, Charumathi
A1  - Salomaa, Veikko
A1  - Salvi, Erika
A1  - Saum, Kai-Uwe
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Ben Schottker, 
A1  - Schulz, Christina-Alexandra
A1  - Schupf, Nicole
A1  - Shaffer, Christian M.
A1  - Shi, Yuan
A1  - Smith, Albert V.
A1  - Smith, Blair H.
A1  - Soranzo, Nicole
A1  - Spracklen, Cassandra N.
A1  - Strauch, Konstantin
A1  - Stringham, Heather M.
A1  - Stumvoll, Michael
A1  - Svensson, Per O.
A1  - Szymczak, Silke
A1  - Tai, E-Shyong
A1  - Tajuddin, Salman M.
A1  - Tan, Nicholas Y. Q.
A1  - Taylor, Kent D.
A1  - Teren, Andrej
A1  - Tham, Yih-Chung
A1  - Thiery, Joachim
A1  - Thio, Chris H. L.
A1  - Thomsen, Hauke
A1  - Thorleifsson, Gudmar
A1  - Toniolo, Daniela
A1  - Tonjes, Anke
A1  - Tremblay, Johanne
A1  - Tzoulaki, Ioanna
A1  - Uitterlinden, Andre G.
A1  - Vaccargiu, Simona
A1  - Van Dam, Rob M.
A1  - Van der Harst, Pim
A1  - Van Duijn, Cornelia M.
A1  - Edward, Digna R. Velez
A1  - Verweij, Niek
A1  - Vogelezang, Suzanne
A1  - Volker, Uwe
A1  - Vollenweider, Peter
A1  - Waeber, Gerard
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Wang, Ya Xing
A1  - Wang, Chaolong
A1  - Waterworth, Dawn M.
A1  - Bin Wei, Wen
A1  - White, Harvey
A1  - Whitfield, John B.
A1  - Wild, Sarah H.
A1  - Wilson, James F.
A1  - Wojczynski, Mary K.
A1  - Wong, Charlene
A1  - Wong, Tien-Yin
A1  - Xu, Liang
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Weihua
A1  - Zonderman, Alan B.
A1  - Rotter, Jerome I.
A1  - Bochud, Murielle
A1  - Psaty, Bruce M.
A1  - Vitart, Veronique
A1  - Wilson, James G.
A1  - Dehghan, Abbas
A1  - Parsa, Afshin
A1  - Chasman, Daniel I.
A1  - Ho, Kevin
A1  - Morris, Andrew P.
A1  - Devuyst, Olivier
A1  - Akilesh, Shreeram
A1  - Pendergrass, Sarah A.
A1  - Sim, Xueling
A1  - Boger, Carsten A.
A1  - Okada, Yukinori
A1  - Edwards, Todd L.
A1  - Snieder, Harold
A1  - Stefansson, Kari
A1  - Hung, Adriana M.
A1  - Heid, Iris M.
A1  - Scholz, Markus
A1  - Teumer, Alexander
A1  - Kottgen, Anna
A1  - Pattaro, Cristian
T1  - A catalog of genetic loci associated with kidney function from analyses of a million individuals
JF  - Nature genetics
N2  - Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Y1  - 2019
U6  - https://doi.org/10.1038/s41588-019-0407-x
SN  - 1061-4036
SN  - 1546-1718
VL  - 51
IS  - 6
SP  - 957
EP  - +
PB  - Nature Publ. Group
CY  - New York
ER  - 
TY  - GEN
A1  - Gorski, Mathias
A1  - Jung, Bettina
A1  - Li, Yong
A1  - Matias-Garcia, Pamela R.
A1  - Wuttke, Matthias
A1  - Coassin, Stefan
A1  - Thio, Chris H. L.
A1  - Kleber, Marcus E.
A1  - Winkler, Thomas W.
A1  - Wanner, Veronika
A1  - Chai, Jin-Fang
A1  - Chu, Audrey Y.
A1  - Cocca, Massimiliano
A1  - Feitosa, Mary F.
A1  - Ghasemi, Sahar
A1  - Hoppmann, Anselm
A1  - Horn, Katrin
A1  - Li, Man
A1  - Nutile, Teresa
A1  - Scholz, Markus
A1  - Sieber, Karsten B.
A1  - Teumer, Alexander
A1  - Tin, Adrienne
A1  - Wang, Judy
A1  - Tayo, Bamidele O.
A1  - Ahluwalia, Tarunveer S.
A1  - Almgren, Peter
A1  - Bakker, Stephan J. L.
A1  - Banas, Bernhard
A1  - Bansal, Nisha
A1  - Biggs, Mary L.
A1  - Boerwinkle, Eric
A1  - Böttinger, Erwin
A1  - Brenner, Hermann
A1  - Carroll, Robert J.
A1  - Chalmers, John
A1  - Chee, Miao-Li
A1  - Chee, Miao-Ling
A1  - Cheng, Ching-Yu
A1  - Coresh, Josef
A1  - de Borst, Martin H.
A1  - Degenhardt, Frauke
A1  - Eckardt, Kai-Uwe
A1  - Endlich, Karlhans
A1  - Franke, Andre
A1  - Freitag-Wolf, Sandra
A1  - Gampawar, Piyush
A1  - Gansevoort, Ron T.
A1  - Ghanbari, Mohsen
A1  - Gieger, Christian
A1  - Hamet, Pavel
A1  - Ho, Kevin
A1  - Hofer, Edith
A1  - Holleczek, Bernd
A1  - Foo, Valencia Hui Xian
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Josyula, Navya Shilpa
A1  - Kahonen, Mika
A1  - Khor, Chiea-Chuen
A1  - Koenig, Wolfgang
A1  - Kramer, Holly
A1  - Kraemer, Bernhard K.
A1  - Kuehnel, Brigitte
A1  - Lange, Leslie A.
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Loos, Ruth J. F.
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Milaneschi, Yuri
A1  - Mishra, Pashupati P.
A1  - Mononen, Nina
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - O'Donoghue, Michelle L.
A1  - Orho-Melander, Marju
A1  - Pendergrass, Sarah A.
A1  - Penninx, Brenda W. J. H.
A1  - Preuss, Michael H.
A1  - Psaty, Bruce M.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Rosenkranz, Alexander R.
A1  - Rossing, Peter
A1  - Rotter, Jerome
A1  - Sabanayagam, Charumathi
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Schoettker, Ben
A1  - Schulz, Christina-Alexandra
A1  - Sedaghat, Sanaz
A1  - Shaffer, Christian M.
A1  - Strauch, Konstantin
A1  - Szymczak, Silke
A1  - Taylor, Kent D.
A1  - Tremblay, Johanne
A1  - Chaker, Layal
A1  - van der Harst, Pim
A1  - van der Most, Peter J.
A1  - Verweij, Niek
A1  - Voelker, Uwe
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Waterworth, Dawn M.
A1  - White, Harvey D.
A1  - Wilson, James G.
A1  - Wong, Tien-Yin
A1  - Woodward, Mark
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Yan
A1  - Snieder, Harold
A1  - Wanner, Christoph
A1  - Boger, Carsten A.
A1  - Kottgen, Anna
A1  - Kronenberg, Florian
A1  - Pattaro, Cristian
A1  - Heid, Iris M.
T1  - Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
T2  - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät
N2  - Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
T3  - Zweitveröffentlichungen der Universität Potsdam : Reihe der Digital Engineering Fakultät - 19 
KW  - acute kidney injury
KW  - end-stage kidney disease
KW  - genome-wide association
KW  - study
KW  - rapid eGFRcrea decline
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:kobv:517-opus4-565379
IS  - 19
ER  - 
TY  - JOUR
A1  - Gorski, Mathias
A1  - Jung, Bettina
A1  - Li, Yong
A1  - Matias-Garcia, Pamela R.
A1  - Wuttke, Matthias
A1  - Coassin, Stefan
A1  - Thio, Chris H. L.
A1  - Kleber, Marcus E.
A1  - Winkler, Thomas W.
A1  - Wanner, Veronika
A1  - Chai, Jin-Fang
A1  - Chu, Audrey Y.
A1  - Cocca, Massimiliano
A1  - Feitosa, Mary F.
A1  - Ghasemi, Sahar
A1  - Hoppmann, Anselm
A1  - Horn, Katrin
A1  - Li, Man
A1  - Nutile, Teresa
A1  - Scholz, Markus
A1  - Sieber, Karsten B.
A1  - Teumer, Alexander
A1  - Tin, Adrienne
A1  - Wang, Judy
A1  - Tayo, Bamidele O.
A1  - Ahluwalia, Tarunveer S.
A1  - Almgren, Peter
A1  - Bakker, Stephan J. L.
A1  - Banas, Bernhard
A1  - Bansal, Nisha
A1  - Biggs, Mary L.
A1  - Boerwinkle, Eric
A1  - Böttinger, Erwin
A1  - Brenner, Hermann
A1  - Carroll, Robert J.
A1  - Chalmers, John
A1  - Chee, Miao-Li
A1  - Chee, Miao-Ling
A1  - Cheng, Ching-Yu
A1  - Coresh, Josef
A1  - de Borst, Martin H.
A1  - Degenhardt, Frauke
A1  - Eckardt, Kai-Uwe
A1  - Endlich, Karlhans
A1  - Franke, Andre
A1  - Freitag-Wolf, Sandra
A1  - Gampawar, Piyush
A1  - Gansevoort, Ron T.
A1  - Ghanbari, Mohsen
A1  - Gieger, Christian
A1  - Hamet, Pavel
A1  - Ho, Kevin
A1  - Hofer, Edith
A1  - Holleczek, Bernd
A1  - Foo, Valencia Hui Xian
A1  - Hutri-Kahonen, Nina
A1  - Hwang, Shih-Jen
A1  - Ikram, M. Arfan
A1  - Josyula, Navya Shilpa
A1  - Kahonen, Mika
A1  - Khor, Chiea-Chuen
A1  - Koenig, Wolfgang
A1  - Kramer, Holly
A1  - Kraemer, Bernhard K.
A1  - Kuehnel, Brigitte
A1  - Lange, Leslie A.
A1  - Lehtimaki, Terho
A1  - Lieb, Wolfgang
A1  - Loos, Ruth J. F.
A1  - Lukas, Mary Ann
A1  - Lyytikainen, Leo-Pekka
A1  - Meisinger, Christa
A1  - Meitinger, Thomas
A1  - Melander, Olle
A1  - Milaneschi, Yuri
A1  - Mishra, Pashupati P.
A1  - Mononen, Nina
A1  - Mychaleckyj, Josyf C.
A1  - Nadkarni, Girish N.
A1  - Nauck, Matthias
A1  - Nikus, Kjell
A1  - Ning, Boting
A1  - Nolte, Ilja M.
A1  - O'Donoghue, Michelle L.
A1  - Orho-Melander, Marju
A1  - Pendergrass, Sarah A.
A1  - Penninx, Brenda W. J. H.
A1  - Preuss, Michael H.
A1  - Psaty, Bruce M.
A1  - Raffield, Laura M.
A1  - Raitakari, Olli T.
A1  - Rettig, Rainer
A1  - Rheinberger, Myriam
A1  - Rice, Kenneth M.
A1  - Rosenkranz, Alexander R.
A1  - Rossing, Peter
A1  - Rotter, Jerome
A1  - Sabanayagam, Charumathi
A1  - Schmidt, Helena
A1  - Schmidt, Reinhold
A1  - Schoettker, Ben
A1  - Schulz, Christina-Alexandra
A1  - Sedaghat, Sanaz
A1  - Shaffer, Christian M.
A1  - Strauch, Konstantin
A1  - Szymczak, Silke
A1  - Taylor, Kent D.
A1  - Tremblay, Johanne
A1  - Chaker, Layal
A1  - van der Harst, Pim
A1  - van der Most, Peter J.
A1  - Verweij, Niek
A1  - Voelker, Uwe
A1  - Waldenberger, Melanie
A1  - Wallentin, Lars
A1  - Waterworth, Dawn M.
A1  - White, Harvey D.
A1  - Wilson, James G.
A1  - Wong, Tien-Yin
A1  - Woodward, Mark
A1  - Yang, Qiong
A1  - Yasuda, Masayuki
A1  - Yerges-Armstrong, Laura M.
A1  - Zhang, Yan
A1  - Snieder, Harold
A1  - Wanner, Christoph
A1  - Boger, Carsten A.
A1  - Kottgen, Anna
A1  - Kronenberg, Florian
A1  - Pattaro, Cristian
A1  - Heid, Iris M.
T1  - Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline
JF  - Kidney international : official journal of the International Society of Nephrology
N2  - Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.
KW  - acute kidney injury
KW  - end-stage kidney disease
KW  - genome-wide association
KW  - study
KW  - rapid eGFRcrea decline
Y1  - 2020
U6  - https://doi.org/10.1016/j.kint.2020.09.030
SN  - 0085-2538
SN  - 1523-1755
VL  - 99
IS  - 4
SP  - 926
EP  - 939
PB  - Elsevier
CY  - New York
ER  - 
TY  - JOUR
A1  - Wilke, Franziska Daniela Helena
A1  - Schmidt, Alexander
A1  - Ziemann, Martin Andreas
T1  - Subduction, peak and multi-stage exhumation metamorphism: Traces from one coesite-bearing eclogite, Tso Moran, western Himalaya
JF  - Lithos : an international journal of mineralogy, petrology, and geochemistry
N2  - Ultrahigh-pressure (UHP), coesite-bearing edogites in the Himalaya have been documented from the Kaghan Valley in Pakistan and the Tso Morani area in northwest India. These complexes are part of the northern edge of the Indian plate that has been subducted to, and metamorphosed at, mantle depths of more than 100 km before being exhumed. Both UHP complexes are located today directly adjacent to the Indus-Tsangpo suture zone and are not separated by non-metamorphosed sequences of Tethyan sediments from the Asian margin. Herein, we present new data for one fresh coesite-bearing eclogite from the Tso Moran massif. Therein, garnets are zoned reflecting their growth during prograde and peak metamorphism and showing a thin retrograde overgrowth. Inclusions can be directly correlated to the compositional zoning and are seen as either relicts of the protolith mineral paragenesis and as "snap shots" of the mineral paragenesis during subduction and under peak conditions. Rare earth element concentrations (REE) were obtained for garnet, mineral inclusions in garnet and matrix minerals. The REE pattern in garnet reflects a sequential change in matrix minerals and their proportions due to net transfer reactions during subduction and peak metamorphism. Using conventional geothermobarometry, a peak pressure of ca. 44-48 kbar at 560-760 degrees C followed by an S-shaped exhumation curve has been deduced. Gibbs free energy minimization modelling was used to supplement our analytical findings. (C) 2015 Elsevier B.V. All rights reserved.
KW  - Tso Morari
KW  - Coesite-bearing eclogite
KW  - Ultra-high pressure (UHP)
KW  - Rare earth element (REE) distribution
KW  - Laser ICP-MS
Y1  - 2015
U6  - https://doi.org/10.1016/j.lithos2015.06.007
SN  - 0024-4937
SN  - 1872-6143
VL  - 231
SP  - 77
EP  - 91
PB  - Elsevier
CY  - Amsterdam
ER  -