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Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis.
Jawed, Rohil; Zhang, Mingming; Wang, Chan; Yang, Shu-Han; Jiang, Peng; Wu, Qiuyuan; Li, Li; Chen, Weichang; Gershwin, M Eric; Tian, Ye; Seldin, Michael F; Ma, Xiong; Liu, Xiangdong; Lian, Zhe-Xiong; Shi, Xingjuan.
Afiliación
  • Jawed R; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
  • Zhang M; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
  • Wang C; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
  • Yang SH; Department of General Surgery, Guangzhou Digestive Disease Center, Guangzhou First Peoples Hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong, 510006, China.
  • Jiang P; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
  • Wu Q; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China.
  • Li L; Department of Laboratory Medicine, School of Medicine, Zhongda Hospital, Southeast University, Nanjing, Jiangsu, 210009, China.
  • Chen W; Department of Rheumatology, Department of Gastroenterology, The First Affiliated Hospital of Soochow University, Jiangsu, Suzhou, 215006, China.
  • Gershwin ME; Division of Rheumatology, Allergy, and Clinical Immunology, Rowe Program in Genetics, University of California-Davis, Davis, CA, 95616, USA.
  • Tian Y; Department of Radiology, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
  • Seldin MF; Department of Biochemistry and Molecular Medicine, University of California At Davis School of Medicine, Davis, CA, USA.
  • Ma X; Department of Gastroenterology and Hepatology, Shanghai Institute of Digestive Diseases, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, China.
  • Liu X; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China. xiangdongliu@seu.edu.cn.
  • Lian ZX; Department of General Surgery, Guangzhou Digestive Disease Center, Guangzhou First Peoples Hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong, 510006, China. zxlian@scut.edu.cn.
  • Shi X; Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Southeast University, Nanjing, Jiangsu, 210096, China. xingjuanshi@seu.edu.cn.
Immunogenetics ; 72(9-10): 467-474, 2020 12.
Article en En | MEDLINE | ID: mdl-33284381
Susceptibility to primary biliary cholangitis (PBC) is in part genetically determined. In our previous PBC genome-wide association study (GWAS) in 1118 Han Chinese PBC and 4036 controls, we noted that multiple SNPs in the runt-related transcription factor 3 (RUNX3) regions showed a nominally significant association. The tag SNP rs7529070 was genotyped using a TaqMan assay in a separately collected 1435 PBC and 3205 controls. A meta-analysis with a combined 2553 PBC and 7241 controls showed that rs7529070 is still nominally associated with PBC (p = 1.7 × 10-4, odds ratio (OR) = 1.18, 95% confidence interval (CI) = 1.08-1.28). Further analysis indicated that the risk allele of rs7529070 (G allele) is in complete linkage disequilibrium (LD) (r2 = 1) with the G allele of rs4648889, which is known to be associated with increased RUNX3 expression. Bioinformatic analysis with existing expression data showed that the expression of RUNX3 is significantly increased in PBC patients (p = 0.001) and the expression level is correlated with disease severity. Consistently, we also found significantly increased RUNX3 expression (p < 0.01) in the livers of dnTGFßRII mice (a PBC mouse model). This study suggests that the RUNX3 locus may associate with PBC in Han Chinese.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Subunidad alfa 3 del Factor de Unión al Sitio Principal / Cirrosis Hepática Biliar Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Humans Idioma: En Revista: Immunogenetics Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Subunidad alfa 3 del Factor de Unión al Sitio Principal / Cirrosis Hepática Biliar Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Humans Idioma: En Revista: Immunogenetics Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos