Gene Polymorphism

  • Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population
    Leilei Wen, Caihong Zhu, Zhengwei Zhu, Chao Yang, Xiaodong Zheng, Lu Liu, Xianbo Zuo, Yujun Sheng, Huayang Tang, Bo Liang, Yi Zhou, Pan Li, Jun Zhu, Yantao Ding, Gang Chen, Jinping Gao, Lili Tang, Yuyan Cheng, Jingying Sun, Tamilselvi Elango, Anjana Kafle, Ruixing Yu, Ke Xue, Yaohua Zhang, Feng Li, Zhanguo Li, Jianping Guo, Xuan Zhang, Chen Zhou, Yuanjia Tang, Nan Shen, Meng Wang, Xueqing Yu, Shengxiu Liu, Xing Fan, Min Gao, Fengli Xiao, Peiguang Wang, Zaixing Wang, Anping Zhang, Fusheng Zhou, Liangdan Sun, Sen Yang, Jinhua Xu, Xianyong Yin, Yong Cui, Xuejun Zhang
  • Recommendations for collaborative paediatric research including biobanking in Europe: a Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) initiative
    Jasmin B Kuemmerle-Deschner, Sandra Hansmann, Nico M Wulffraat, Sebastiaan J Vastert, Kristien Hens, Jordi Anton, Tadej Avcin, Alberto Martini, Isabelle Koné-Paut, Yosef Uziel, Angelo Ravelli, Carine Wouters, David Shaw, Seza Özen, Andreas Eikelberg, Berent J Prakken, Nicolino Ruperto, Gerd Horneff, Tamas Constantin, Michael W Beresford, Marijn Sikken, Helen E Foster, Iris Haug, Sabrina Schuller, Christine Jägle, Susanne M Benseler
  • Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density
    Nerea Alonso, Karol Estrada, Omar M E Albagha, Lizbeth Herrera, Sjur Reppe, Ole K Olstad, Kaare M Gautvik, Niamh M Ryan, Kathryn L Evans, Carrie M Nielson, Yi-Hsiang Hsu, Douglas P Kiel, George Markozannes, Evangelia E Ntzani, Evangelos Evangelou, Bjarke Feenstra, Xueping Liu, Mads Melbye, Laura Masi, Maria Luisa Brandi, Philip Riches, Anna Daroszewska, José Manuel Olmos, Carmen Valero, Jesús Castillo, José A Riancho, Lise B Husted, Bente L Langdahl, Matthew A Brown, Emma L Duncan, Stephen Kaptoge, Kay-Tee Khaw, Ricardo Usategui-Martín, Javier Del Pino-Montes, Rogelio González-Sarmiento, Joshua R Lewis, Richard L Prince, Patrizia D’Amelio, Natalia García-Giralt, Xavier Nogués, Simona Mencej-Bedrac, Janja Marc, Orit Wolstein, John A Eisman, Ling Oei, Carolina Medina-Gómez, Katharina E Schraut, Pau Navarro, James F Wilson, Gail Davies, John Starr, Ian Deary, Toshiko Tanaka, Luigi Ferrucci, Fernando Gianfrancesco, Luigi Gennari, Gavin Lucas, Roberto Elosua, André G Uitterlinden, Fernando Rivadeneira, Stuart H Ralston
  • MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank
    Xue Li, Xiangrui Meng, Athina Spiliopoulou, Maria Timofeeva, Wei-Qi Wei, Aliya Gifford, Xia Shen, Yazhou He, Tim Varley, Paul McKeigue, Ioanna Tzoulaki, Alan F Wright, Peter Joshi, Joshua C Denny, Harry Campbell, Evropi Theodoratou
  • DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus
    Juliana Imgenberg-Kreuz, Jonas Carlsson Almlöf, Dag Leonard, Andrei Alexsson, Gunnel Nordmark, Maija-Leena Eloranta, Solbritt Rantapää-Dahlqvist, Anders A Bengtsson, Andreas Jönsen, Leonid Padyukov, Iva Gunnarsson, Elisabet Svenungsson, Christopher Sjöwall, Lars Rönnblom, Ann-Christine Syvänen, Johanna K Sandling
  • Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis
    Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, Akari Suzuki, Eiryo Kawakami, Ryosuke Hiwa, Yukihide Momozawa, Manabu Fujimoto, Masatoshi Jinnin, Yoshiya Tanaka, Takashi Kanda, Robert G Cooper, Hector Chinoy, Simon Rothwell, Janine A Lamb, Jiří Vencovský, Heřman Mann, Koichiro Ohmura, Keiko Myouzen, Kazuyoshi Ishigaki, Ran Nakashima, Yuji Hosono, Hiroto Tsuboi, Hidenaga Kawasumi, Yukiko Iwasaki, Hiroshi Kajiyama, Tetsuya Horita, Mariko Ogawa-Momohara, Akito Takamura, Shinichiro Tsunoda, Jun Shimizu, Keishi Fujio, Hirofumi Amano, Akio Mimori, Atsushi Kawakami, Hisanori Umehara, Tsutomu Takeuchi, Hajime Sano, Yoshinao Muro, Tatsuya Atsumi, Toshihide Mimura, Yasushi Kawaguchi, Tsuneyo Mimori, Atsushi Takahashi, Michiaki Kubo, Hitoshi Kohsaka, Takayuki Sumida, Kazuhiko Yamamoto
  • Mitochondrial genetic variation and gout in Māori and Pacific people living in Aotearoa New Zealand
    Anna L Gosling, James Boocock, Nicola Dalbeth, Jennie Harré Hindmarsh, Lisa K Stamp, Eli A Stahl, Hyon K Choi, Elizabeth A Matisoo-Smith, Tony R Merriman
  • ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
    Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno
  • Multiomic disease signatures converge to cytotoxic CD8 T cells in primary Sjögren’s syndrome
    Shinya Tasaki, Katsuya Suzuki, Ayumi Nishikawa, Yoshiaki Kassai, Maiko Takiguchi, Rina Kurisu, Yuumi Okuzono, Takahiro Miyazaki, Masaru Takeshita, Keiko Yoshimoto, Hidekata Yasuoka, Kunihiro Yamaoka, Kazuhiro Ikeura, Kazuyuki Tsunoda, Rimpei Morita, Akihiko Yoshimura, Hiroyoshi Toyoshiba, Tsutomu Takeuchi
  • Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis
    Kalliope Panoutsopoulou, Shankar Thiagarajah, Eleni Zengini, Aaron G Day-Williams, Yolande FM Ramos, Jennifer MTA Meessen, Kasper Huetink, Rob GHH Nelissen, Lorraine Southam, N William Rayner, arcOGEN Consortium, Michael Doherty, Ingrid Meulenbelt, Eleftheria Zeggini, J Mark Wilkinson

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