UQCC1 c.574-4593A>G

Variant ID: 20-33907161-T-C

NM_018244.4(UQCC1):c.574-4593A>G

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants.

Hgg Advances
Young, Kristin L KL; Fisher, Virginia V; Deng, Xuan X; Brody, Jennifer A JA; Graff, Misa M; Lim, Elise E; Lin, Bridget M BM; Xu, Hanfei H; Amin, Najaf N; An, Ping P; Aslibekyan, Stella S; Fohner, Alison E AE; Hidalgo, Bertha B; Lenzini, Petra P; Kraaij, Robert R; Medina-Gomez, Carolina C; Prokić, Ivana I; Rivadeneira, Fernando F; Sitlani, Colleen C; Tao, Ran R; van Rooij, Jeroen J; Zhang, Di D; Broome, Jai G JG; Buth, Erin J EJ; Heavner, Benjamin D BD; Jain, Deepti D; Smith, Albert V AV; Barnes, Kathleen K; Boorgula, Meher Preethi MP; Chavan, Sameer S; Darbar, Dawood D; De Andrade, Mariza M; Guo, Xiuqing X; Haessler, Jeffrey J; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kardia, Sharon L R SLR; Kooperberg, Charles C; Kim, Wonji W; Mathias, Rasika A RA; McDonald, Merry-Lynn ML; Mitchell, Braxton D BD; Peyser, Patricia A PA; Regan, Elizabeth A EA; Redline, Susan S; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Smith, Jennifer A JA; Weiss, Scott S; Wiggins, Kerri L KL; Yanek, Lisa R LR; Arnett, Donna D; Heard-Costa, Nancy L NL; Leal, Suzanne S; Lin, Danyu D; McKnight, Barbara B; Province, Michael M; van Duijn, Cornelia M CM; North, Kari E KE; Cupples, L Adrienne LA; Liu, Ching-Ti CT
Publication Date: 2023-01-12

Variant appearance in text: rs6060369
PubMed Link: 36568030
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs6060369
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage
Young, D A DA; Barter, M J MJ; Soul, J J
Publication Date: 2022-02

Variant appearance in text: rs6060369
PubMed Link: 34774787
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Osteoarthritis year in review: genetics, genomics, epigenetics.

Osteoarthritis And Cartilage
Young, D A DA; Barter, M J MJ; Soul, J J
Publication Date: 2021-11-11

Variant appearance in text: rs6060369
PubMed Link: 34774787
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Novel nomogram for predicting the progression of osteoarthritis based on 3D-MRI bone shape: data from the FNIH OA biomarkers consortium.

Bmc Musculoskeletal Disorders
Sun, Yingwei Y; Deng, Chunbo C; Zhang, Zhan Z; Ma, Xun X; Zhou, Fenghua F; Liu, Xueyong X
Publication Date: 2021-09-12

Variant appearance in text: rs6060369
PubMed Link: 34511103
Variant Present in the following documents:
  • Main text
  • 12891_2021_Article_4620.pdf
View BVdb publication page



The Genetic Contribution to Drug Response in Spondyloarthritis: A Systematic Literature Review.

Frontiers In Genetics
Ortolan, Augusta A; Cozzi, Giacomo G; Lorenzin, Mariagrazia M; Galozzi, Paola P; Doria, Andrea A; Ramonda, Roberta R
Publication Date: 2021

Variant appearance in text: rs6060369
PubMed Link: 34354741
Variant Present in the following documents:
  • Main text
  • fgene-12-703911.pdf
View BVdb publication page



Joint disease-specificity at the regulatory base-pair level.

Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06

Variant appearance in text: rs6060369
PubMed Link: 34230488
Variant Present in the following documents:
  • Main text
  • 41467_2021_24345_MOESM2_ESM.pdf
  • 41467_2021_24345_MOESM1_ESM.pdf
  • 41467_2021_Article_24345.pdf
View BVdb publication page



Joint disease-specificity at the regulatory base-pair level.

Nature Communications
Muthuirulan, Pushpanathan P; Zhao, Dewei D; Young, Mariel M; Richard, Daniel D; Liu, Zun Z; Emami, Alireza A; Portilla, Gabriela G; Hosseinzadeh, Shayan S; Cao, Jiaxue J; Maridas, David D; Sedlak, Mary M; Menghini, Danilo D; Cheng, Liangliang L; Li, Lu L; Ding, Xinjia X; Ding, Yan Y; Rosen, Vicki V; Kiapour, Ata M AM; Capellini, Terence D TD
Publication Date: 2021-07-06

Variant appearance in text: rs6060369
PubMed Link: 34230488
Variant Present in the following documents:
  • Main text
  • 41467_2021_24345_MOESM2_ESM.pdf
  • 41467_2021_24345_MOESM1_ESM.pdf
  • 41467_2021_Article_24345.pdf
View BVdb publication page



Osteoarthritis: Novel Molecular Mechanisms Increase Our Understanding of the Disease Pathology.

Journal Of Clinical Medicine
Grässel, Susanne S; Zaucke, Frank F; Madry, Henning H
Publication Date: 2021-04-30

Variant appearance in text: rs6060369
PubMed Link: 33946429
Variant Present in the following documents:
  • Main text
View BVdb publication page



MARS: leveraging allelic heterogeneity to increase power of association testing.

Genome Biology
Hormozdiari, Farhad F; Jung, Junghyun J; Eskin, Eleazar E; J Joo, Jong Wha JW
Publication Date: 2021-04-30

Variant appearance in text: rs6060369
PubMed Link: 33931127
Variant Present in the following documents:
  • Main text
View BVdb publication page



Knee Osteoarthritis: A Review of Pathogenesis and State-Of-The-Art Non-Operative Therapeutic Considerations.

Genes
Primorac, Dragan D; Molnar, Vilim V; Rod, Eduard E; Jeleč, Željko Ž; Čukelj, Fabijan F; Matišić, Vid V; Vrdoljak, Trpimir T; Hudetz, Damir D; Hajsok, Hana H; Borić, Igor I
Publication Date: 2020-07-26

Variant appearance in text: rs6060369
PubMed Link: 32722615
Variant Present in the following documents:
  • Main text
  • genes-11-00854.pdf
View BVdb publication page



The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis.

Calcified Tissue International
Wilkinson, J Mark JM; Zeggini, Eleftheria E
Publication Date: 2021-09

Variant appearance in text: rs6060369
PubMed Link: 32393986
Variant Present in the following documents:
  • Main text
  • 223_2020_Article_702.pdf
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Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk.

Cell
Richard, Daniel D; Liu, Zun Z; Cao, Jiaxue J; Kiapour, Ata M AM; Willen, Jessica J; Yarlagadda, Siddharth S; Jagoda, Evelyn E; Kolachalama, Vijaya B VB; Sieker, Jakob T JT; Chang, Gary H GH; Muthuirulan, Pushpanathan P; Young, Mariel M; Masson, Anand A; Konrad, Johannes J; Hosseinzadeh, Shayan S; Maridas, David E DE; Rosen, Vicki V; Krawetz, Roman R; Roach, Neil N; Capellini, Terence D TD
Publication Date: 2020-04-16

Variant appearance in text: rs6060369
PubMed Link: 32220312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex Phenotypes: Mechanisms Underlying Variation in Human Stature.

Current Osteoporosis Reports
Muthuirulan, Pushpanathan P; Capellini, Terence D TD
Publication Date: 2019-10

Variant appearance in text: rs6060369
PubMed Link: 31441021
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Genome Research
Zhang, Tongwu T; Choi, Jiyeon J; Kovacs, Michael A MA; Shi, Jianxin J; Xu, Mai M; , ; , ; Goldstein, Alisa M AM; Trower, Adam J AJ; Bishop, D Timothy DT; Iles, Mark M MM; Duffy, David L DL; MacGregor, Stuart S; Amundadottir, Laufey T LT; Law, Matthew H MH; Loftus, Stacie K SK; Pavan, William J WJ; Brown, Kevin M KM
Publication Date: 2018-11

Variant appearance in text: rs6060369
PubMed Link: 30333196
Variant Present in the following documents:
  • 1621.pdf
View BVdb publication page



Trans-eQTLs identified in whole blood have limited influence on complex disease biology.

European Journal Of Human Genetics : Ejhg
Yap, Chloe X CX; Lloyd-Jones, Luke L; Holloway, Alexander A; Smartt, Peter P; Wray, Naomi R NR; Gratten, Jacob J; Powell, Joseph E JE
Publication Date: 2018-09

Variant appearance in text: rs6060369
PubMed Link: 29891877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs6060369
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Novel Genetic Variants Associated with Lumbar Spondylosis in Koreans : A Genome-Wide Association Study.

Journal Of Korean Neurosurgical Society
Kim, Hyun Ah HA; Heo, Seong Gu SG; Park, Ji Wan JW; Jung, Young Ok YO
Publication Date: 2018-01

Variant appearance in text: rs6060369
PubMed Link: 29354237
Variant Present in the following documents:
  • Main text
  • jkns-61-1-66.pdf
View BVdb publication page



Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.

Nature Genetics
Capellini, Terence D TD; Chen, Hao H; Cao, Jiaxue J; Doxey, Andrew C AC; Kiapour, Ata M AM; Schoor, Michael M; Kingsley, David M DM
Publication Date: 2017-08

Variant appearance in text: rs6060369
PubMed Link: 28671685
Variant Present in the following documents:
  • Main text
  • nihms-884460.pdf
  • NIHMS884460-supplement-2.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs6060369
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-9.pdf
View BVdb publication page



New genetic loci link adipose and insulin biology to body fat distribution.

Nature
Shungin, Dmitry D; Winkler, Thomas W TW; Croteau-Chonka, Damien C DC; Ferreira, Teresa T; Locke, Adam E AE; Mägi, Reedik R; Strawbridge, Rona J RJ; Pers, Tune H TH; Fischer, Krista K; Justice, Anne E AE; Workalemahu, Tsegaselassie T; Wu, Joseph M W JMW; Buchkovich, Martin L ML; Heard-Costa, Nancy L NL; Roman, Tamara S TS; Drong, Alexander W AW; Song, Ci C; Gustafsson, Stefan S; Day, Felix R FR; Esko, Tonu T; Fall, Tove T; Kutalik, Zoltán Z; Luan, Jian'an J; Randall, Joshua C JC; Scherag, André A; Vedantam, Sailaja S; Wood, Andrew R AR; Chen, Jin J; Fehrmann, Rudolf R; Karjalainen, Juha J; Kahali, Bratati B; Liu, Ching-Ti CT; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Ehret, Georg B GB; Feitosa, Mary F MF; Goel, Anuj A; Jackson, Anne U AU; Johnson, Toby T; Kleber, Marcus E ME; Kristiansson, Kati K; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Stančáková, Alena A; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Van Vliet-Ostaptchouk, Jana V JV; Yengo, Loïc L; Zhang, Weihua W; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Bandinelli, Stefania S; Barrett, Amy A; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blüher, Matthias M; Böhringer, Stefan S; Bonnet, Fabrice F; Böttcher, Yvonne Y; Bruinenberg, Marcel M; Carba, Delia B DB; Caspersen, Ida H IH; Clarke, Robert R; Daw, E Warwick EW; Deelen, Joris J; Deelman, Ewa E; Delgado, Graciela G; Doney, Alex Sf AS; Eklund, Niina N; Erdos, Michael R MR; Estrada, Karol K; Eury, Elodie E; Friedrich, Nele N; Garcia, Melissa E ME; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grewal, Jagvir J; Groves, Christopher J CJ; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heikkilä, Kauko K; Herzig, Karl-Heinz KH; Helmer, Quinta Q; Hillege, Hans L HL; Holmen, Oddgeir O; Hunt, Steven C SC; Isaacs, Aaron A; Ittermann, Till T; James, Alan L AL; Johansson, Ingegerd I; Juliusdottir, Thorhildur T; Kalafati, Ioanna-Panagiota IP; Kinnunen, Leena L; Koenig, Wolfgang W; Kooner, Ishminder K IK; Kratzer, Wolfgang W; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lobbens, Stéphane S; Lorentzon, Mattias M; Mach, François F; Magnusson, Patrik Ke PK; Mahajan, Anubha A; McArdle, Wendy L WL; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Mills, Rebecca R; Moayyeri, Alireza A; Monda, Keri L KL; Mooijaart, Simon P SP; Mühleisen, Thomas W TW; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Nagaraja, Ramaiah R; Nalls, Michael A MA; Narisu, Narisu N; Glorioso, Nicola N; Nolte, Ilja M IM; Olden, Matthias M; Rayner, Nigel W NW; Renstrom, Frida F; Ried, Janina S JS; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Sennblad, Bengt B; Seufferlein, Thomas T; Sitlani, Colleen M CM; Smith, Albert Vernon AV; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tomaschitz, Andreas A; Troffa, Chiara C; van Oort, Floor Va FV; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Wennauer, Roman R; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Zhang, Qunyuan Q; Zhao, Jing Hua JH; Brennan, Eoin P EP; Choi, Murim M; Eriksson, Per P; Folkersen, Lasse L; Franco-Cereceda, Anders A; Gharavi, Ali G AG; Hedman, Åsa K ÅK; Hivert, Marie-France MF; Huang, Jinyan J; Kanoni, Stavroula S; Karpe, Fredrik F; Keildson, Sarah S; Kiryluk, Krzysztof K; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McKnight, Amy J AJ; McPherson, Ruth R; Metspalu, Andres A; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Olsson, Christian C; Perry, John Rb JR; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Schadt, Eric E EE; Scott, Robert A RA; Stolk, Lisette L; Vallejo, Edgar E EE; Westra, Harm-Jan HJ; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Amouyel, Philippe P; Arveiler, Dominique D; Bakker, Stephan Jl SJ; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Brown, Morris J MJ; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chines, Peter S PS; Claudi-Boehm, Simone S; Collins, Francis S FS; Crawford, Dana C DC; Danesh, John J; de Faire, Ulf U; de Geus, Eco Jc EJ; Dörr, Marcus M; Erbel, Raimund R; Eriksson, Johan G JG; Farrall, Martin M; Ferrannini, Ele E; Ferrières, Jean J; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gieger, Christian C; Gudnason, Vilmundur V; Haiman, Christopher A CA; Harris, Tamara B TB; Hattersley, Andrew T AT; Heliövaara, Markku M; Hicks, Andrew A AA; Hingorani, Aroon D AD; Hoffmann, Wolfgang W; Hofman, Albert A; Homuth, Georg G; Humphries, Steve E SE; Hyppönen, Elina E; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Johansen, Berit B; Jousilahti, Pekka P; Jula, Antti M AM; Kaprio, Jaakko J; Kee, Frank F; Keinanen-Kiukaanniemi, Sirkka M SM; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Lakka, Timo A TA; Langenberg, Claudia C; Le Marchand, Loic L; Lehtimäki, Terho T; Lyssenko, Valeriya V; Männistö, Satu S; Marette, André A; Matise, Tara C TC; McKenzie, Colin A CA; McKnight, Barbara B; Musk, Arthur W AW; Möhlenkamp, Stefan S; Morris, Andrew D AD; Nelis, Mari M; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Palmer, Lyle J LJ; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Ridker, Paul M PM; Ritchie, Marylyn D MD; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Saramies, Jouko J; Sarzynski, Mark A MA; Schwarz, Peter Eh PE; Shuldiner, Alan R AR; Staessen, Jan A JA; Steinthorsdottir, Valgerdur V; Stolk, Ronald P RP; Strauch, Konstantin K; Tönjes, Anke A; Tremblay, Angelo A; Tremoli, Elena E; Vohl, Marie-Claude MC; Völker, Uwe U; Vollenweider, Peter P; Wilson, James F JF; Witteman, Jacqueline C JC; Adair, Linda S LS; Bochud, Murielle M; Boehm, Bernhard O BO; Bornstein, Stefan R SR; Bouchard, Claude C; Cauchi, Stéphane S; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Cooper, Richard S RS; Dedoussis, George G; Ferrucci, Luigi L; Froguel, Philippe P; Grabe, Hans-Jörgen HJ; Hamsten, Anders A; Hui, Jennie J; Hveem, Kristian K; Jöckel, Karl-Heinz KH; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; März, Winfried W; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin Na CN; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sinisalo, Juha J; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Veronesi, Giovanni G; Walker, Mark M; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Berndt, Sonja I SI; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Franke, Lude L; Frayling, Timothy M TM; Groop, Leif C LC; Hunter, David J DJ; Kaplan, Robert C RC; O'Connell, Jeffrey R JR; Qi, Lu L; Schlessinger, David D; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Willer, Cristen J CJ; Visscher, Peter M PM; Yang, Jian J; Hirschhorn, Joel N JN; Zillikens, M Carola MC; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Fox, Caroline S CS; Barroso, Inês I; Franks, Paul W PW; Ingelsson, Erik E; Heid, Iris M IM; Loos, Ruth Jf RJ; Cupples, L Adrienne LA; Morris, Andrew P AP; Lindgren, Cecilia M CM; Mohlke, Karen L KL
Publication Date: 2015-02-12

Variant appearance in text: rs6060369
PubMed Link: 25673412
Variant Present in the following documents:
  • Main text
  • emss-61357.pdf
View BVdb publication page



Genome-wide association study identified UQCC locus for spine bone size in humans.

Bone
Deng, Fei-Yan FY; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Liu, Yong-Jun YJ; Liu, Yao-Zhong YZ; Shen, Hui H; Tian, Qing Q; Li, Jian J; Deng, Hong-Wen HW
Publication Date: 2013-03

Variant appearance in text: rs6060369
PubMed Link: 23207799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extent of height variability explained by known height-associated genetic variants in an isolated population of the Adriatic coast of Croatia.

Plos One
Zhang, Ge G; Karns, Rebekah R; Sun, Guangyun G; Indugula, Subba Rao SR; Cheng, Hong H; Havas-Augustin, Dubravka D; Novokmet, Natalija N; Rudan, Dusko D; Durakovic, Zijad Z; Missoni, Sasa S; Chakraborty, Ranajit R; Rudan, Pavao P; Deka, Ranjan R
Publication Date: 2011

Variant appearance in text: rs6060369
PubMed Link: 22216288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

Human Molecular Genetics
Carty, Cara L CL; Johnson, Nicholas A NA; Hutter, Carolyn M CM; Reiner, Alexander P AP; Peters, Ulrike U; Tang, Hua H; Kooperberg, Charles C
Publication Date: 2012-02-01

Variant appearance in text: rs6060369
PubMed Link: 22021425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Choice of population structure informative principal components for adjustment in a case-control study.

Bmc Genetics
Peloso, Gina M GM; Lunetta, Kathryn L KL
Publication Date: 2011-07-19

Variant appearance in text: rs6060369
PubMed Link: 21771328
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.

Plos Genetics
Innocenti, Federico F; Cooper, Gregory M GM; Stanaway, Ian B IB; Gamazon, Eric R ER; Smith, Joshua D JD; Mirkov, Snezana S; Ramirez, Jacqueline J; Liu, Wanqing W; Lin, Yvonne S YS; Moloney, Cliona C; Aldred, Shelly Force SF; Trinklein, Nathan D ND; Schuetz, Erin E; Nickerson, Deborah A DA; Thummel, Ken E KE; Rieder, Mark J MJ; Rettie, Allan E AE; Ratain, Mark J MJ; Cox, Nancy J NJ; Brown, Christopher D CD
Publication Date: 2011-05

Variant appearance in text: rs6060369
PubMed Link: 21637794
Variant Present in the following documents:
  • Main text
  • pgen.1002078.pdf
View BVdb publication page



Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.

Obesity (Silver Spring, Md.)
Croteau-Chonka, Damien C DC; Marvelle, Amanda F AF; Lange, Ethan M EM; Lee, Nanette R NR; Adair, Linda S LS; Lange, Leslie A LA; Mohlke, Karen L KL
Publication Date: 2011-05

Variant appearance in text: rs6060369
PubMed Link: 20966902
Variant Present in the following documents:
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Genome-wide association study of height and body mass index in Australian twin families.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Liu, Jimmy Z JZ; Medland, Sarah E SE; Wright, Margaret J MJ; Henders, Anjali K AK; Heath, Andrew C AC; Madden, Pamela A F PA; Duncan, Alexis A; Montgomery, Grant W GW; Martin, Nicholas G NG; McRae, Allan F AF
Publication Date: 2010-04

Variant appearance in text: rs6060369
PubMed Link: 20397748
Variant Present in the following documents:
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Assessing the impact of global versus local ancestry in association studies.

Bmc Proceedings
Kang, Sun Jung SJ; Larkin, Emma K EK; Song, Yeunjoo Y; Barnholtz-Sloan, Jill J; Baechle, Dan D; Feng, Tao T; Zhu, Xiaofeng X
Publication Date: 2009-12-15

Variant appearance in text: rs6060369
PubMed Link: 20017971
Variant Present in the following documents:
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Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.

Human Molecular Genetics
Tönjes, Anke A; Koriath, Moritz M; Schleinitz, Dorit D; Dietrich, Kerstin K; Böttcher, Yvonne Y; Rayner, Nigel W NW; Almgren, Peter P; Enigk, Beate B; Richter, Olaf O; Rohm, Silvio S; Fischer-Rosinsky, Antje A; Pfeiffer, Andreas A; Hoffmann, Katrin K; Krohn, Knut K; Aust, Gabriela G; Spranger, Joachim J; Groop, Leif L; Blüher, Matthias M; Kovacs, Peter P; Stumvoll, Michael M
Publication Date: 2009-12-01

Variant appearance in text: rs6060369
PubMed Link: 19729412
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Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Plos Genetics
Lowe, Jennifer K JK; Maller, Julian B JB; Pe'er, Itsik I; Neale, Benjamin M BM; Salit, Jacqueline J; Kenny, Eimear E EE; Shea, Jessica L JL; Burkhardt, Ralph R; Smith, J Gustav JG; Ji, Weizhen W; Noel, Martha M; Foo, Jia Nee JN; Blundell, Maude L ML; Skilling, Vita V; Garcia, Laura L; Sullivan, Marcia L ML; Lee, Heather E HE; Labek, Anna A; Ferdowsian, Hope H; Auerbach, Steven B SB; Lifton, Richard P RP; Newton-Cheh, Christopher C; Breslow, Jan L JL; Stoffel, Markus M; Daly, Mark J MJ; Altshuler, David M DM; Friedman, Jeffrey M JM
Publication Date: 2009-02

Variant appearance in text: rs6060369
PubMed Link: 19197348
Variant Present in the following documents:
  • Main text
  • pgen.1000365.pdf
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Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.

Human Genetics
Lei, Shu-Feng SF; Yang, Tie-Lin TL; Tan, Li-Jun LJ; Chen, Xiang-Ding XD; Guo, Yan Y; Guo, Yan-Fang YF; Zhang, Liang L; Liu, Xiao-Gang XG; Yan, Han H; Pan, Feng F; Zhang, Zhi-Xin ZX; Peng, Yu-Mei YM; Zhou, Qi Q; He, Li-Na LN; Zhu, Xue-Zhen XZ; Cheng, Jing J; Liu, Yao-Zhong YZ; Papasian, Christopher J CJ; Deng, Hong-Wen HW
Publication Date: 2009-02

Variant appearance in text: rs6060369
PubMed Link: 19030899
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Identification of ten loci associated with height highlights new biological pathways in human growth.

Nature Genetics
Lettre, Guillaume G; Jackson, Anne U AU; Gieger, Christian C; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Sanna, Serena S; Eyheramendy, Susana S; Voight, Benjamin F BF; Butler, Johannah L JL; Guiducci, Candace C; Illig, Thomas T; Hackett, Rachel R; Heid, Iris M IM; Jacobs, Kevin B KB; Lyssenko, Valeriya V; Uda, Manuela M; , ; , ; , ; , ; , ; , ; Boehnke, Michael M; Chanock, Stephen J SJ; Groop, Leif C LC; Hu, Frank B FB; Isomaa, Bo B; Kraft, Peter P; Peltonen, Leena L; Salomaa, Veikko V; Schlessinger, David D; Hunter, David J DJ; Hayes, Richard B RB; Abecasis, Gonçalo R GR; Wichmann, H-Erich HE; Mohlke, Karen L KL; Hirschhorn, Joel N JN
Publication Date: 2008-05

Variant appearance in text: rs6060369
PubMed Link: 18391950
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Common variants in the GDF5-UQCC region are associated with variation in human height.

Nature Genetics
Sanna, Serena S; Jackson, Anne U AU; Nagaraja, Ramaiah R; Willer, Cristen J CJ; Chen, Wei-Min WM; Bonnycastle, Lori L LL; Shen, Haiqing H; Timpson, Nicholas N; Lettre, Guillaume G; Usala, Gianluca G; Chines, Peter S PS; Stringham, Heather M HM; Scott, Laura J LJ; Dei, Mariano M; Lai, Sandra S; Albai, Giuseppe G; Crisponi, Laura L; Naitza, Silvia S; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ben-Shlomo, Yoav Y; Ebrahim, Shah S; Lawlor, Debbie A DA; Bergman, Richard N RN; Watanabe, Richard M RM; Uda, Manuela M; Tuomilehto, Jaakko J; Coresh, Josef J; Hirschhorn, Joel N JN; Shuldiner, Alan R AR; Schlessinger, David D; Collins, Francis S FS; Davey Smith, George G; Boerwinkle, Eric E; Cao, Antonio A; Boehnke, Michael M; Abecasis, Gonçalo R GR; Mohlke, Karen L KL
Publication Date: 2008-02

Variant appearance in text: rs6060369
PubMed Link: 18193045
Variant Present in the following documents:
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