Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population： A Case- Control Study

• Published in: Chinese medical journal Vol. 128; no. 22; pp. 3008 - 3014
• Main Authors: Yang, Liu, Zhang, Hong, Jiang, Yan-Fang, Jin, Qing-Long, Zhang, Peng, Li, Xu, Gao, Pu-Jun, Niu, Jun-Qi
• Format: Journal Article
• Language: English
• Published: China Medknow Publications Pvt Ltd 20.11.2015; Medknow Publications and Media Pvt. Ltd; Lippincott Williams & Wilkins Ovid Technologies; National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing,Jiangsu 210002, China%Phase Ⅰ Clinical Trials Unit, First Hospital, Jilin University, Changchun, Jilin 130021, China%Department of Hepatology, First Hospital, Jilin University, Changchun, Jilin 130021, China; Department of Hepatology, First Hospital, Jilin University, Changchun, Jilin 130021, China; Medknow Publications & Media Pvt Ltd; Wolters Kluwer
• Subjects: Adult; Aged; Analysis; Asian Continental Ancestry Group; Bile; Biliary cirrhosis; Cancer; Case-Control Studies; Cytokines; Estrogen Receptor alpha - genetics; Estrogen Receptor beta - genetics; Estrogen Receptor; Gene Polymorphism; Primary Biliary Cirrhosis; Estrogens; FDA approval; Female; Females; Gene Frequency - genetics; Genes; Genetic aspects; Genetic polymorphisms; Genetic Predisposition to Disease - genetics; Haplotypes - genetics; Hepatitis; Hepatology; Hospitals; Humans; Liver cirrhosis; Liver Cirrhosis, Biliary - genetics; Liver diseases; Male; Medical prognosis; Middle Aged; Original; Physiological aspects; Polymorphism, Single Nucleotide - genetics; Population; Receptors, Estrogen - genetics; Risk factors; Studies; Tumor necrosis factor-TNF; Ultrasonic imaging; 中国人群; 单核苷酸多态性; 原发性; 基因多态性; 等位基因; 肝硬化; 胆汁; 雌激素受体; China; United States > US; Gene Polymorphism; Estrogen Receptor; Primary Biliary Cirrhosis
• ISSN: 0366-6999; 2542-5641
• DOI: 10.4103/0366-6999.168964

Background： Primary biliary cirrhosis （PBC） is a chronic and slowly progressive cholestatic liver disease characterized by destruction of the interlobular bile ducts and a striking female predominance, The aim of this study was to identity associations between estrogen receptor （ESR） gene polymorphisms with the risk of developing PBC and abnormal serum liver tests in a Chinese population. Methods： Thirty-six patients with PBC （case group） and 35 healthy individuals （control group） from the First Hospital of Jilin University were studied. Whole genomic DNA was extracted from all the participants. Three single-nucleotide polymorphisms （rs2234693~ rs2228480, and rs3798577） from ESR1 and two （rs1256030 and rs1048315） from ESR2 were analyzed by a pyrosequencing method. Demographic data and liver biochemical data were collected. Results： Subjects with the T allele at ESR2 rs1256030 had 1.5 times higher risk of developing PBC than those with the C allele （odds ratio [OR] = 2.1277, 95% confidence interval [CI] = 1.1872-4.5517）. Haplotypes TGC of ESRI rs2234693, rs2228480, and rs3798577 were risk thctors for having PBC. The C allele at ESRI rs2234693 was associated with abnormal alkaline phosphatase （OR 5.2469, 95% CI = 1.3704-20.0895） and gamma-glutamyl transferase （OR = 3.4286, 95% CI = 1.0083-13.6578） levels in PBC patients. Conclusions： ESR2 rs1256030 T allele may be a significant risk factor for the development of PBC. Screening for patients with gene polymorphisms may help to make early diagnoses in patients with PBC.