GDF5 c.-48T>C

Variant ID: 20-34025756-A-G

NM_000557.2(GDF5):c.-48T>C

This variant was identified in 81 publications

View GRCh38 version.




Publications:


Height-Related Polygenic Variants Are Associated with Metabolic Syndrome Risk and Interact with Energy Intake and a Rice-Main Diet to Influence Height in KoGES.

Nutrients
Park, Sunmin S
Publication Date: 2023-04-04

Variant appearance in text: rs143384
PubMed Link: 37049604
Variant Present in the following documents:
  • Main text
  • nutrients-15-01764.pdf
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs143384
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genome-Wide Association Study and Transcriptome of Japanese Patients with Developmental Dysplasia of the Hip Demonstrates an Association with the Ferroptosis Signaling Pathway.

International Journal Of Molecular Sciences
Mori, Yu Y; Ueno, Kazuko K; Chiba, Daisuke D; Hashimoto, Ko K; Kawai, Yosuke Y; Baba, Kazuyoshi K; Tanaka, Hidetatsu H; Aki, Takashi T; Ogasawara, Masanori M; Shibasaki, Naoto N; Tokunaga, Katsushi K; Aizawa, Toshimi T; Nagasaki, Masao M
Publication Date: 2023-03-06

Variant appearance in text: rs143384
PubMed Link: 36902448
Variant Present in the following documents:
  • Main text
  • ijms-24-05019.pdf
View BVdb publication page



Gene polymorphisms associated with heterogeneity and senescence characteristics of sarcopenia in chronic obstructive pulmonary disease.

Journal Of Cachexia, Sarcopenia And Muscle
Attaway, Amy H AH; Bellar, Annette A; Welch, Nicole N; Sekar, Jinendiran J; Kumar, Avinash A; Mishra, Saurabh S; Hatipoğlu, Umur U; McDonald, Merry-Lynn ML; Regan, Elizabeth A EA; Smith, Jonathan D JD; Washko, George G; Estépar, Raúl San José RSJ; Bazeley, Peter P; Zein, Joe J; Dasarathy, Srinivasan S
Publication Date: 2023-03-01

Variant appearance in text: rs143384
PubMed Link: 36856146
Variant Present in the following documents:
  • Main text
  • JCSM-14-1083.pdf
View BVdb publication page



A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.

Communications Biology
Sinkala, Musalula M; Elsheikh, Samar S M SSM; Mbiyavanga, Mamana M; Cullinan, Joshua J; Mulder, Nicola J NJ
Publication Date: 2023-01-14

Variant appearance in text: rs143384
PubMed Link: 36641522
Variant Present in the following documents:
  • Main text
  • 42003_2023_Article_4443.pdf
View BVdb publication page



Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: rs143384
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
View BVdb publication page



Genomic Predictors of Brisk Walking Are Associated with Elite Sprinter Status.

Genes
Guilherme, João Paulo L F JPLF; Semenova, Ekaterina A EA; Larin, Andrey K AK; Yusupov, Rinat A RA; Generozov, Edward V EV; Ahmetov, Ildus I II
Publication Date: 2022-09-23

Variant appearance in text: rs143384
PubMed Link: 36292594
Variant Present in the following documents:
  • Main text
  • genes-13-01710.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs143384
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs143384
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Your height affects your health: genetic determinants and health-related outcomes in Taiwan.

Bmc Medicine
Chiou, Jian-Shiun JS; Cheng, Chi-Fung CF; Liang, Wen-Miin WM; Chou, Chen-Hsing CH; Wang, Chung-Hsing CH; Lin, Wei-De WD; Chiu, Mu-Lin ML; Cheng, Wei-Chung WC; Lin, Cheng-Wen CW; Lin, Ting-Hsu TH; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Chang-Hai CH; Lin, Ying-Ju YJ; Tsai, Fuu-Jen FJ
Publication Date: 2022-07-13

Variant appearance in text: rs143384
PubMed Link: 35831902
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Causal Relationship Between Sleep and Obesity: Novel Insights and Therapeutic Target.

The Journal Of Clinical Endocrinology And Metabolism
Wang, Jun J; Wu, Ning N; Zhang, Lei L
Publication Date: 2022-09-28

Variant appearance in text: rs143384
PubMed Link: 35715884
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: rs143384
PubMed Link: 35110524
Variant Present in the following documents:
  • Main text
  • 41467_2022_28167_MOESM1_ESM.pdf
  • 41467_2022_Article_28167.pdf
  • 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Nature Communications
Bjornsdottir, Gyda G; Stefansdottir, Lilja L; Thorleifsson, Gudmar G; Sulem, Patrick P; Norland, Kristjan K; Ferkingstad, Egil E; Oddsson, Asmundur A; Zink, Florian F; Lund, Sigrun H SH; Nawaz, Muhammad S MS; Bragi Walters, G G; Skuladottir, Astros Th AT; Gudjonsson, Sigurjon A SA; Einarsson, Gudmundur G; Halldorsson, Gisli H GH; Bjarnadottir, Valgerdur V; Sveinbjornsson, Gardar G; Helgadottir, Anna A; Styrkarsdottir, Unnur U; Gudmundsson, Larus J LJ; Pedersen, Ole B OB; Hansen, Thomas Folkmann TF; Werge, Thomas T; Banasik, Karina K; Troelsen, Anders A; Skou, Soren T ST; Thørner, Lise Wegner LW; Erikstrup, Christian C; Nielsen, Kaspar Rene KR; Mikkelsen, Susan S; , ; , ; Jonsdottir, Ingileif I; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Blondal, Josep J; Vikingsson, Arnor A; Brunak, Soren S; Ostrowski, Sisse R SR; Ullum, Henrik H; Thorsteinsdottir, Unnur U; Stefansson, Hreinn H; Gudbjartsson, Daniel F DF; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K
Publication Date: 2022-02-02

Variant appearance in text: rs143384
PubMed Link: 35110524
Variant Present in the following documents:
  • Main text
  • 41467_2022_28167_MOESM1_ESM.pdf
  • 41467_2022_Article_28167.pdf
  • 41467_2022_28167_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



The Link between Type 2 Diabetes Mellitus and the Polymorphisms of Glutathione-Metabolizing Genes Suggests a New Hypothesis Explaining Disease Initiation and Progression.

Life (Basel, Switzerland)
Azarova, Iuliia I; Klyosova, Elena E; Polonikov, Alexey A
Publication Date: 2021-08-28

Variant appearance in text: rs143384
PubMed Link: 34575035
Variant Present in the following documents:
  • Main text
  • life-11-00886.pdf
View BVdb publication page



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

Cell
Boer, Cindy G CG; Hatzikotoulas, Konstantinos K; Southam, Lorraine L; Stefánsdóttir, Lilja L; Zhang, Yanfei Y; Coutinho de Almeida, Rodrigo R; Wu, Tian T TT; Zheng, Jie J; Hartley, April A; Teder-Laving, Maris M; Skogholt, Anne Heidi AH; Terao, Chikashi C; Zengini, Eleni E; Alexiadis, George G; Barysenka, Andrei A; Bjornsdottir, Gyda G; Gabrielsen, Maiken E ME; Gilly, Arthur A; Ingvarsson, Thorvaldur T; Johnsen, Marianne B MB; Jonsson, Helgi H; Kloppenburg, Margreet M; Luetge, Almut A; Lund, Sigrun H SH; Mägi, Reedik R; Mangino, Massimo M; Nelissen, Rob R G H H RRGHH; Shivakumar, Manu M; Steinberg, Julia J; Takuwa, Hiroshi H; Thomas, Laurent F LF; Tuerlings, Margo M; , ; , ; , ; , ; Babis, George C GC; Cheung, Jason Pui Yin JPY; Kang, Jae Hee JH; Kraft, Peter P; Lietman, Steven A SA; Samartzis, Dino D; Slagboom, P Eline PE; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Tobias, Jonathan H JH; Uitterlinden, André G AG; Winsvold, Bendik B; Zwart, John-Anker JA; Davey Smith, George G; Sham, Pak Chung PC; Thorleifsson, Gudmar G; Gaunt, Tom R TR; Morris, Andrew P AP; Valdes, Ana M AM; Tsezou, Aspasia A; Cheah, Kathryn S E KSE; Ikegawa, Shiro S; Hveem, Kristian K; Esko, Tõnu T; Wilkinson, J Mark JM; Meulenbelt, Ingrid I; Lee, Ming Ta Michael MTM; van Meurs, Joyce B J JBJ; Styrkársdóttir, Unnur U; Zeggini, Eleftheria E
Publication Date: 2021-09-02

Variant appearance in text: rs143384
PubMed Link: 34450027
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of common variants in GDF5 gene on the susceptibility to chronic postsurgical pain.

Journal Of Orthopaedic Surgery And Research
Yan, Shaoyao S; Nie, Huiyong H; Bu, Gang G; Yuan, Weili W; Wang, Suoliang S
Publication Date: 2021-07-01

Variant appearance in text: rs143384
PubMed Link: 34210342
Variant Present in the following documents:
  • Main text
  • 13018_2021_Article_2549.pdf
View BVdb publication page



Current Evidence about Developmental Dysplasia of the Hip in Pregnancy.

Medicina (Kaunas, Lithuania)
Simionescu, Anca Angela AA; Cirstoiu, Monica Mihaela MM; Cirstoiu, Catalin C; Stanescu, Ana Maria Alexandra AMA; Crețu, Bogdan B
Publication Date: 2021-06-26

Variant appearance in text: rs143384
PubMed Link: 34206824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Study of IL6, GDF5 and PAPPA2 in Association with Developmental Dysplasia of the Hip.

Genes
Harsanyi, Stefan S; Zamborsky, Radoslav R; Krajciova, Lubica L; Kokavec, Milan M; Danisovic, Lubos L
Publication Date: 2021-06-28

Variant appearance in text: rs143384
PubMed Link: 34203285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs143384
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs143384
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.

American Journal Of Human Genetics
Graff, Mariaelisa M; Justice, Anne E AE; Young, Kristin L KL; Marouli, Eirini E; Zhang, Xinruo X; Fine, Rebecca S RS; Lim, Elise E; Buchanan, Victoria V; Rand, Kristin K; Feitosa, Mary F MF; Wojczynski, Mary K MK; Yanek, Lisa R LR; Shao, Yaming Y; Rohde, Rebecca R; Adeyemo, Adebowale A AA; Aldrich, Melinda C MC; Allison, Matthew A MA; Ambrosone, Christine B CB; Ambs, Stefan S; Amos, Christopher C; Arnett, Donna K DK; Atwood, Larry L; Bandera, Elisa V EV; Bartz, Traci T; Becker, Diane M DM; Berndt, Sonja I SI; Bernstein, Leslie L; Bielak, Lawrence F LF; Blot, William J WJ; Bottinger, Erwin P EP; Bowden, Donald W DW; Bradfield, Jonathan P JP; Brody, Jennifer A JA; Broeckel, Ulrich U; Burke, Gregory G; Cade, Brian E BE; Cai, Qiuyin Q; Caporaso, Neil N; Carlson, Chris C; Carpten, John J; Casey, Graham G; Chanock, Stephen J SJ; Chen, Guanjie G; Chen, Minhui M; Chen, Yii-Der I YI; Chen, Wei-Min WM; Chesi, Alessandra A; Chiang, Charleston W K CWK; Chu, Lisa L; Coetzee, Gerry A GA; Conti, David V DV; Cooper, Richard S RS; Cushman, Mary M; Demerath, Ellen E; Deming, Sandra L SL; Dimitrov, Latchezar L; Ding, Jingzhong J; Diver, W Ryan WR; Duan, Qing Q; Evans, Michele K MK; Falusi, Adeyinka G AG; Faul, Jessica D JD; Fornage, Myriam M; Fox, Caroline C; Freedman, Barry I BI; Garcia, Melissa M; Gillanders, Elizabeth M EM; Goodman, Phyllis P; Gottesman, Omri O; Grant, Struan F A SFA; Guo, Xiuqing X; Hakonarson, Hakon H; Haritunians, Talin T; Harris, Tamara B TB; Harris, Curtis C CC; Henderson, Brian E BE; Hennis, Anselm A; Hernandez, Dena G DG; Hirschhorn, Joel N JN; McNeill, Lorna Haughton LH; Howard, Timothy D TD; Howard, Barbara B; Hsing, Ann W AW; Hsu, Yu-Han H YH; Hu, Jennifer J JJ; Huff, Chad D CD; Huo, Dezheng D; Ingles, Sue A SA; Irvin, Marguerite R MR; John, Esther M EM; Johnson, Karen C KC; Jordan, Joanne M JM; Kabagambe, Edmond K EK; Kang, Sun J SJ; Kardia, Sharon L SL; Keating, Brendan J BJ; Kittles, Rick A RA; Klein, Eric A EA; Kolb, Suzanne S; Kolonel, Laurence N LN; Kooperberg, Charles C; Kuller, Lewis L; Kutlar, Abdullah A; Lange, Leslie L; Langefeld, Carl D CD; Le Marchand, Loic L; Leonard, Hampton H; Lettre, Guillaume G; Levin, Albert M AM; Li, Yun Y; Li, Jin J; Liu, Yongmei Y; Liu, Youfang Y; Liu, Simin S; Lohman, Kurt K; Lotay, Vaneet V; Lu, Yingchang Y; Maixner, William W; Manson, JoAnn E JE; McKnight, Barbara B; Meng, Yan Y; Monda, Keri L KL; Monroe, Kris K; Moore, Jason H JH; Mosley, Thomas H TH; Mudgal, Poorva P; Murphy, Adam B AB; Nadukuru, Rajiv R; Nalls, Mike A MA; Nathanson, Katherine L KL; Nayak, Uma U; N'Diaye, Amidou A; Nemesure, Barbara B; Neslund-Dudas, Christine C; Neuhouser, Marian L ML; Nyante, Sarah S; Ochs-Balcom, Heather H; Ogundiran, Temidayo O TO; Ogunniyi, Adesola A; Ojengbede, Oladosu O; Okut, Hayrettin H; Olopade, Olufunmilayo I OI; Olshan, Andrew A; Padhukasahasram, Badri B; Palmer, Julie J; Palmer, Cameron D CD; Palmer, Nicholette D ND; Papanicolaou, George G; Patel, Sanjay R SR; Pettaway, Curtis A CA; Peyser, Patricia A PA; Press, Michael F MF; Rao, D C DC; Rasmussen-Torvik, Laura J LJ; Redline, Susan S; Reiner, Alex P AP; Rhie, Suhn K SK; Rodriguez-Gil, Jorge L JL; Rotimi, Charles N CN; Rotter, Jerome I JI; Ruiz-Narvaez, Edward A EA; Rybicki, Benjamin A BA; Salako, Babatunde B; Sale, Michele M MM; Sanderson, Maureen M; Schadt, Eric E; Schreiner, Pamela J PJ; Schurmann, Claudia C; Schwartz, Ann G AG; Shriner, Daniel A DA; Signorello, Lisa B LB; Singleton, Andrew B AB; Siscovick, David S DS; Smith, Jennifer A JA; Smith, Shad S; Speliotes, Elizabeth E; Spitz, Margaret M; Stanford, Janet L JL; Stevens, Victoria L VL; Stram, Alex A; Strom, Sara S SS; Sucheston, Lara L; Sun, Yan V YV; Tajuddin, Salman M SM; Taylor, Herman H; Taylor, Kira K; Tayo, Bamidele O BO; Thun, Michael J MJ; Tucker, Margaret A MA; Vaidya, Dhananjay D; Van Den Berg, David J DJ; Vedantam, Sailaja S; Vitolins, Mara M; Wang, Zhaoming Z; Ware, Erin B EB; Wassertheil-Smoller, Sylvia S; Weir, David R DR; Wiencke, John K JK; Williams, Scott M SM; Williams, L Keoki LK; Wilson, James G JG; Witte, John S JS; Wrensch, Margaret M; Wu, Xifeng X; Yao, Jie J; Zakai, Neil N; Zanetti, Krista K; Zemel, Babette S BS; Zhao, Wei W; Zhao, Jing Hua JH; Zheng, Wei W; Zhi, Degui D; Zhou, Jie J; Zhu, Xiaofeng X; Ziegler, Regina G RG; Zmuda, Joe J; Zonderman, Alan B AB; Psaty, Bruce M BM; Borecki, Ingrid B IB; Cupples, L Adrienne LA; Liu, Ching-Ti CT; Haiman, Christopher A CA; Loos, Ruth R; Ng, Maggie C Y MCY; North, Kari E KE
Publication Date: 2021-04-01

Variant appearance in text: rs143384
PubMed Link: 33713608
Variant Present in the following documents:
  • Main text
View BVdb publication page



The limits of normal approximation for adult height.

European Journal Of Human Genetics : Ejhg
Slavskii, Sergei A SA; Kuznetsov, Ivan A IA; Shashkova, Tatiana I TI; Bazykin, Georgii A GA; Axenovich, Tatiana I TI; Kondrashov, Fyodor A FA; Aulchenko, Yurii S YS
Publication Date: 2021-07

Variant appearance in text: rs143384
PubMed Link: 33664501
Variant Present in the following documents:
  • Main text
  • 41431_2021_Article_836.pdf
View BVdb publication page



Growth differentiation factor 5 in cartilage and osteoarthritis: A possible therapeutic candidate.

Cell Proliferation
Sun, Kai K; Guo, Jiachao J; Yao, Xudong X; Guo, Zhou Z; Guo, Fengjing F
Publication Date: 2021-03

Variant appearance in text: rs143384
PubMed Link: 33522652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.

Nature Communications
Jones, Garan G; Trajanoska, Katerina K; Santanasto, Adam J AJ; Stringa, Najada N; Kuo, Chia-Ling CL; Atkins, Janice L JL; Lewis, Joshua R JR; Duong, ThuyVy T; Hong, Shengjun S; Biggs, Mary L ML; Luan, Jian'an J; Sarnowski, Chloe C; Lunetta, Kathryn L KL; Tanaka, Toshiko T; Wojczynski, Mary K MK; Cvejkus, Ryan R; Nethander, Maria M; Ghasemi, Sahar S; Yang, Jingyun J; Zillikens, M Carola MC; Walter, Stefan S; Sicinski, Kamil K; Kague, Erika E; Ackert-Bicknell, Cheryl L CL; Arking, Dan E DE; Windham, B Gwen BG; Boerwinkle, Eric E; Grove, Megan L ML; Graff, Misa M; Spira, Dominik D; Demuth, Ilja I; van der Velde, Nathalie N; de Groot, Lisette C P G M LCPGM; Psaty, Bruce M BM; Odden, Michelle C MC; Fohner, Alison E AE; Langenberg, Claudia C; Wareham, Nicholas J NJ; Bandinelli, Stefania S; van Schoor, Natasja M NM; Huisman, Martijn M; Tan, Qihua Q; Zmuda, Joseph J; Mellström, Dan D; Karlsson, Magnus M; Bennett, David A DA; Buchman, Aron S AS; De Jager, Philip L PL; Uitterlinden, Andre G AG; Völker, Uwe U; Kocher, Thomas T; Teumer, Alexander A; Rodriguéz-Mañas, Leocadio L; García, Francisco J FJ; Carnicero, José A JA; Herd, Pamela P; Bertram, Lars L; Ohlsson, Claes C; Murabito, Joanne M JM; Melzer, David D; Kuchel, George A GA; Ferrucci, Luigi L; Karasik, David D; Rivadeneira, Fernando F; Kiel, Douglas P DP; Pilling, Luke C LC
Publication Date: 2021-01-28

Variant appearance in text: rs143384
PubMed Link: 33510174
Variant Present in the following documents:
  • Main text
  • 41467_2021_20918_MOESM2_ESM.pdf
  • 41467_2021_20918_MOESM1_ESM.pdf
  • 41467_2021_Article_20918.pdf
View BVdb publication page



Identification of novel SNPs associated with coronary artery disease and birth weight using a pleiotropic cFDR method.

Aging
Wu, Xinrui X; Lin, Xu X; Li, Qi Q; Wang, Zun Z; Zhang, Na N; Tian, Mengyuan M; Wang, Xiaolei X; Deng, Hongwen H; Tan, Hongzhuan H
Publication Date: 2020-12-19

Variant appearance in text: rs143384
PubMed Link: 33411684
Variant Present in the following documents:
  • Main text
  • aging-13-202322.pdf
View BVdb publication page



Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Lorusso, Lorenzo L; Manganotti, Paolo P; Caruso, Paola P; Mazzon, Giulia G; Cecchin, Stefano S; Marceddu, Giuseppe G; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs143384
PubMed Link: 33170156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival.

Communications Biology
Timmins, Iain R IR; Zaccardi, Francesco F; Nelson, Christopher P CP; Franks, Paul W PW; Yates, Thomas T; Dudbridge, Frank F
Publication Date: 2020-10-30

Variant appearance in text: rs143384
PubMed Link: 33128006
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1357.pdf
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2021-03

Variant appearance in text: rs143384
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.

Annals Of The Rheumatic Diseases
Boer, Cindy Germaine CG; Yau, Michelle S MS; Rice, Sarah J SJ; Coutinho de Almeida, Rodrigo R; Cheung, Kathleen K; Styrkarsdottir, Unnur U; Southam, Lorraine L; Broer, Linda L; Wilkinson, Jeremy Mark JM; Uitterlinden, André G AG; Zeggini, Eleftheria E; Felson, David D; Loughlin, John J; Young, Mariel M; Capellini, Terence Dante TD; Meulenbelt, Ingrid I; van Meurs, Joyce Bj JB
Publication Date: 2020-10-14

Variant appearance in text: rs143384
PubMed Link: 33055079
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits.

Scientific Reports
Salnikova, Lyubov E LE; Khadzhieva, Maryam B MB; Kolobkov, Dmitry S DS; Gracheva, Alesya S AS; Kuzovlev, Artem N AN; Abilev, Serikbay K SK
Publication Date: 2020-09-07

Variant appearance in text: rs143384
PubMed Link: 32895400
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_71018.pdf
View BVdb publication page



D2 dopamine receptor gene (DRD2) Taq1A (rs1800497) affects bone density.

Scientific Reports
Chiang, Ting-I TI; Lane, Hsien-Yuan HY; Lin, Chieh-Hsin CH
Publication Date: 2020-08-06

Variant appearance in text: rs143384
PubMed Link: 32764574
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_70262.pdf
View BVdb publication page



Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions.

Communications Biology
Tsepilov, Yakov A YA; Freidin, Maxim B MB; Shadrina, Alexandra S AS; Sharapov, Sodbo Z SZ; Elgaeva, Elizaveta E EE; Zundert, Jan van JV; Karssen, Lennart С LС; Suri, Pradeep P; Williams, Frances M K FMK; Aulchenko, Yurii S YS
Publication Date: 2020-06-25

Variant appearance in text: rs143384
PubMed Link: 32587327
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1051.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs143384
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.

Human Molecular Genetics
Lin, Meng M; Caberto, Christian C; Wan, Peggy P; Li, Yuqing Y; Lum-Jones, Annette A; Tiirikainen, Maarit M; Pooler, Loreall L; Nakamura, Brooke B; Sheng, Xin X; Porcel, Jacqueline J; Lim, Unhee U; Setiawan, Veronica Wendy VW; Le Marchand, Loïc L; Wilkens, Lynne R LR; Haiman, Christopher A CA; Cheng, Iona I; Chiang, Charleston W K CWK
Publication Date: 2020-08-03

Variant appearance in text: rs143384
PubMed Link: 32491157
Variant Present in the following documents:
  • Main text
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: rs143384
PubMed Link: 32393986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.

Medicina (Kaunas, Lithuania)
Harsanyi, Stefan S; Zamborsky, Radoslav R; Krajciova, Lubica L; Kokavec, Milan M; Danisovic, Lubos L
Publication Date: 2020-03-31

Variant appearance in text: rs143384
PubMed Link: 32244273
Variant Present in the following documents:
  • Main text
  • medicina-56-00153.pdf
View BVdb publication page



Genetic Association Between Growth Differentiation Factor 5 Single Nucleotide Polymorphism and Primary Knee Osteoarthritis in a Group of Egyptian Patients: A Pilot Study.

Mediterranean Journal Of Rheumatology
Mohasseb, Dia Mohamed Fahmy DMF; Saba, Emmanuel Kamal Aziz EKA; Saad, Neveen Lewis Mikhael NLM; Sarofeem, Amira Dimas Hanna ADH
Publication Date: 2019-06

Variant appearance in text: rs143384
PubMed Link: 32185351
Variant Present in the following documents:
  • Main text
  • MJR-30-2-114.pdf
View BVdb publication page



Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence.

Efort Open Reviews
Gkiatas, Ioannis I; Boptsi, Anastasia A; Tserga, Dimitra D; Gelalis, Ioannis I; Kosmas, Dimitrios D; Pakos, Emilios E
Publication Date: 2019-10

Variant appearance in text: rs143384
PubMed Link: 31754465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Allen, Richard J RJ; Guillen-Guio, Beatriz B; Oldham, Justin M JM; Ma, Shwu-Fan SF; Dressen, Amy A; Paynton, Megan L ML; Kraven, Luke M LM; Obeidat, Ma'en M; Li, Xuan X; Ng, Michael M; Braybrooke, Rebecca R; Molina-Molina, Maria M; Hobbs, Brian D BD; Putman, Rachel K RK; Sakornsakolpat, Phuwanat P; Booth, Helen L HL; Fahy, William A WA; Hart, Simon P SP; Hill, Mike R MR; Hirani, Nik N; Hubbard, Richard B RB; McAnulty, Robin J RJ; Millar, Ann B AB; Navaratnam, Vidyia V; Oballa, Eunice E; Parfrey, Helen H; Saini, Gauri G; Whyte, Moira K B MKB; Zhang, Yingze Y; Kaminski, Naftali N; Adegunsoye, Ayodeji A; Strek, Mary E ME; Neighbors, Margaret M; Sheng, Xuting R XR; Gudmundsson, Gunnar G; Gudnason, Vilmundur V; Hatabu, Hiroto H; Lederer, David J DJ; Manichaikul, Ani A; Newell, John D JD; O'Connor, George T GT; Ortega, Victor E VE; Xu, Hanfei H; Fingerlin, Tasha E TE; Bossé, Yohan Y; Hao, Ke K; Joubert, Philippe P; Nickle, David C DC; Sin, Don D DD; Timens, Wim W; Furniss, Dominic D; Morris, Andrew P AP; Zondervan, Krina T KT; Hall, Ian P IP; Sayers, Ian I; Tobin, Martin D MD; Maher, Toby M TM; Cho, Michael H MH; Hunninghake, Gary M GM; Schwartz, David A DA; Yaspan, Brian L BL; Molyneaux, Philip L PL; Flores, Carlos C; Noth, Imre I; Jenkins, R Gisli RG; Wain, Louise V LV
Publication Date: 2020-03-01

Variant appearance in text: rs143384
PubMed Link: 31710517
Variant Present in the following documents:
  • rccm.201905-1017OC_allen_data_supplement.pdf
View BVdb publication page



3D-bioprinting a genetically inspired cartilage scaffold with GDF5-conjugated BMSC-laden hydrogel and polymer for cartilage repair.

Theranostics
Sun, Ye Y; You, Yongqing Y; Jiang, Wenbo W; Zhai, Zanjin Z; Dai, Kerong K
Publication Date: 2019

Variant appearance in text: rs143384
PubMed Link: 31660079
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs143384
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.

Communications Biology
Meng, Weihua W; Adams, Mark J MJ; Palmer, Colin N A CNA; , ; Shi, Jingchunzi J; Auton, Adam A; Ryan, Kathleen A KA; Jordan, Joanne M JM; Mitchell, Braxton D BD; Jackson, Rebecca D RD; Yau, Michelle S MS; McIntosh, Andrew M AM; Smith, Blair H BH
Publication Date: 2019

Variant appearance in text: rs143384
PubMed Link: 31482140
Variant Present in the following documents:
  • Main text
  • 42003_2019_Article_568.pdf
View BVdb publication page



GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.

Nature Communications
Styrkarsdottir, Unnur U; Stefansson, Olafur A OA; Gunnarsdottir, Kristbjorg K; Thorleifsson, Gudmar G; Lund, Sigrun H SH; Stefansdottir, Lilja L; Juliusson, Kristinn K; Agustsdottir, Arna B AB; Zink, Florian F; Halldorsson, Gisli H GH; Ivarsdottir, Erna V EV; Benonisdottir, Stefania S; Jonsson, Hakon H; Gylfason, Arnaldur A; Norland, Kristjan K; Trajanoska, Katerina K; Boer, Cindy G CG; Southam, Lorraine L; Leung, Jason C S JCS; Tang, Nelson L S NLS; Kwok, Timothy C Y TCY; Lee, Jenny S W JSW; Ho, Suzanne C SC; Byrjalsen, Inger I; Center, Jacqueline R JR; Lee, Seung Hun SH; Koh, Jung-Min JM; Lohmander, L Stefan LS; Ho-Pham, Lan T LT; Nguyen, Tuan V TV; Eisman, John A JA; Woo, Jean J; Leung, Ping-C PC; Loughlin, John J; Zeggini, Eleftheria E; Christiansen, Claus C; Rivadeneira, Fernando F; van Meurs, Joyce J; Uitterlinden, Andre G AG; Mogensen, Brynjolfur B; Jonsson, Helgi H; Ingvarsson, Thorvaldur T; Sigurdsson, Gunnar G; Benediktsson, Rafn R; Sulem, Patrick P; Jonsdottir, Ingileif I; Masson, Gisli G; Holm, Hilma H; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2019-05-03

Variant appearance in text: rs143384
PubMed Link: 31053729
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_9860.pdf
  • 41467_2019_9860_MOESM1_ESM.pdf
  • 41467_2019_9860_MOESM14_ESM.pdf
  • 41467_2019_9860_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic regulation of linear growth.

Annals Of Pediatric Endocrinology & Metabolism
Yue, Shanna S; Whalen, Philip P; Jee, Youn Hee YH
Publication Date: 2019-03

Variant appearance in text: rs143384
PubMed Link: 30943674
Variant Present in the following documents:
  • Main text
View BVdb publication page



New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Nature Genetics
Shrine, Nick N; Guyatt, Anna L AL; Erzurumluoglu, A Mesut AM; Jackson, Victoria E VE; Hobbs, Brian D BD; Melbourne, Carl A CA; Batini, Chiara C; Fawcett, Katherine A KA; Song, Kijoung K; Sakornsakolpat, Phuwanat P; Li, Xingnan X; Boxall, Ruth R; Reeve, Nicola F NF; Obeidat, Ma'en M; Zhao, Jing Hua JH; Wielscher, Matthias M; Weiss, Stefan S; Kentistou, Katherine A KA; Cook, James P JP; Sun, Benjamin B BB; Zhou, Jian J; Hui, Jennie J; Karrasch, Stefan S; Imboden, Medea M; Harris, Sarah E SE; Marten, Jonathan J; Enroth, Stefan S; Kerr, Shona M SM; Surakka, Ida I; Vitart, Veronique V; Lehtimäki, Terho T; Allen, Richard J RJ; Bakke, Per S PS; Beaty, Terri H TH; Bleecker, Eugene R ER; Bossé, Yohan Y; Brandsma, Corry-Anke CA; Chen, Zhengming Z; Crapo, James D JD; Danesh, John J; DeMeo, Dawn L DL; Dudbridge, Frank F; Ewert, Ralf R; Gieger, Christian C; Gulsvik, Amund A; Hansell, Anna L AL; Hao, Ke K; Hoffman, Joshua D JD; Hokanson, John E JE; Homuth, Georg G; Joshi, Peter K PK; Joubert, Philippe P; Langenberg, Claudia C; Li, Xuan X; Li, Liming L; Lin, Kuang K; Lind, Lars L; Locantore, Nicholas N; Luan, Jian'an J; Mahajan, Anubha A; Maranville, Joseph C JC; Murray, Alison A; Nickle, David C DC; Packer, Richard R; Parker, Margaret M MM; Paynton, Megan L ML; Porteous, David J DJ; Prokopenko, Dmitry D; Qiao, Dandi D; Rawal, Rajesh R; Runz, Heiko H; Sayers, Ian I; Sin, Don D DD; Smith, Blair H BH; Soler Artigas, María M; Sparrow, David D; Tal-Singer, Ruth R; Timmers, Paul R H J PRHJ; Van den Berge, Maarten M; Whittaker, John C JC; Woodruff, Prescott G PG; Yerges-Armstrong, Laura M LM; Troyanskaya, Olga G OG; Raitakari, Olli T OT; Kähönen, Mika M; Polašek, Ozren O; Gyllensten, Ulf U; Rudan, Igor I; Deary, Ian J IJ; Probst-Hensch, Nicole M NM; Schulz, Holger H; James, Alan L AL; Wilson, James F JF; Stubbe, Beate B; Zeggini, Eleftheria E; Jarvelin, Marjo-Riitta MR; Wareham, Nick N; Silverman, Edwin K EK; Hayward, Caroline C; Morris, Andrew P AP; Butterworth, Adam S AS; Scott, Robert A RA; Walters, Robin G RG; Meyers, Deborah A DA; Cho, Michael H MH; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV; ,
Publication Date: 2019-03

Variant appearance in text: rs143384
PubMed Link: 30804560
Variant Present in the following documents:
  • Main text
View BVdb publication page