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Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis.
Dong, Zheng; Zhou, Jingru; Xu, Xia; Jiang, Shuai; Li, Yuan; Zhao, Dongbao; Yang, Chengde; Ma, Yanyun; Wang, Yi; He, Hongjun; Ji, Hengdong; Zhang, Juan; Yuan, Ziyu; Yang, Yajun; Wang, Xiaofeng; Pang, Yafei; Jin, Li; Zou, Hejian; Wang, Jiucun.
Afiliación
  • Dong Z; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Zhou J; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Xu X; Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
  • Jiang S; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Li Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Zhao D; Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
  • Yang C; Division of Rheumatology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Ma Y; Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
  • Wang Y; Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
  • He H; Division of Rheumatology, Taixing People's Hospital, Jiangsu Province, China.
  • Ji H; Division of Rheumatology, Taizhou People's Hospital, Jiangsu Province, China.
  • Zhang J; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
  • Yuan Z; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
  • Yang Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Wang X; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
  • Pang Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
  • Jin L; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu Province, China.
  • Zou H; Division of Rheumatology and Immunology, Changhai Hospital, Shanghai, China.
  • Wang J; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University Jiangwan Campus, Shanghai, China.
Sci Rep ; 8(1): 3848, 2018 03 01.
Article en En | MEDLINE | ID: mdl-29497127
The aims of this study were to identify candidate pathways associated with serum urate and to explore the genetic effect of those pathways on the risk of gout. Pathway analysis of the loci identified in genome-wide association studies (GWASs) showed that the ion transmembrane transporter activity pathway (GO: 0015075) and the secondary active transmembrane transporter activity pathway (GO: 0015291) were both associated with serum urate concentrations, with PFDR values of 0.004 and 0.007, respectively. In a Chinese population of 4,332 individuals, the two pathways were also found to be associated with serum urate (PFDR = 1.88E-05 and 3.44E-04, separately). In addition, these two pathways were further associated with the pathogenesis of gout (PFDR = 1.08E-08 and 2.66E-03, respectively) in the Chinese population and a novel gout-associated gene, SLC17A2, was identified (OR = 0.83, PFDR = 0.017). The mRNA expression of candidate genes also showed significant differences among different groups at pathway level. The present study identified two transmembrane transporter activity pathways (GO: 0015075 and GO: 0015291) were associations with serum urate concentrations and the risk of gout. SLC17A2 was identified as a novel gene that influenced the risk of gout.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Úrico / Gota Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácido Úrico / Gota Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Sci Rep Año: 2018 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido