Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study
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 identify associations between estrogen receptor (ESR) gene polymorphi...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer
2015-01-01
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| Series: | Chinese Medical Journal |
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| Online Access: | http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=22;spage=3008;epage=3014;aulast=Yang |
| _version_ | 1828389552722542592 |
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| author | Liu Yang Hong Zhang Yan-Fang Jiang Qing-Long Jin Peng Zhang Xu Li Pu-Jun Gao Jun-Qi Niu |
| author_facet | Liu Yang Hong Zhang Yan-Fang Jiang Qing-Long Jin Peng Zhang Xu Li Pu-Jun Gao Jun-Qi Niu |
| author_sort | Liu Yang |
| collection | DOAJ |
| description | 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 identify 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 ESR1 rs2234693, rs2228480, and rs3798577 were risk factors for having PBC. The C allele at ESR1 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. |
| first_indexed | 2024-12-10T06:31:07Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 0366-6999 |
| language | English |
| last_indexed | 2024-12-10T06:31:07Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer |
| record_format | Article |
| series | Chinese Medical Journal |
| spelling | doaj.art-002d15b4dfbe44869c93098bb98aa7052022-12-22T01:59:04ZengWolters KluwerChinese Medical Journal0366-69992015-01-01128223008301410.4103/0366-6999.168964Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control StudyLiu YangHong ZhangYan-Fang JiangQing-Long JinPeng ZhangXu LiPu-Jun GaoJun-Qi NiuBackground: 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 identify 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 ESR1 rs2234693, rs2228480, and rs3798577 were risk factors for having PBC. The C allele at ESR1 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.http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=22;spage=3008;epage=3014;aulast=YangEstrogen Receptor; Gene Polymorphism; Primary Biliary Cirrhosis |
| spellingShingle | Liu Yang Hong Zhang Yan-Fang Jiang Qing-Long Jin Peng Zhang Xu Li Pu-Jun Gao Jun-Qi Niu Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study Chinese Medical Journal Estrogen Receptor; Gene Polymorphism; Primary Biliary Cirrhosis |
| title | Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study |
| title_full | Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study |
| title_fullStr | Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study |
| title_full_unstemmed | Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study |
| title_short | Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study |
| title_sort | association of estrogen receptor gene polymorphisms and primary biliary cirrhosis in a chinese population a case control study |
| topic | Estrogen Receptor; Gene Polymorphism; Primary Biliary Cirrhosis |
| url | http://www.cmj.org/article.asp?issn=0366-6999;year=2015;volume=128;issue=22;spage=3008;epage=3014;aulast=Yang |
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