Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population
Primary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Gastroenterology Research and Practice |
| Online Access: | http://dx.doi.org/10.1155/2012/408723 |
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| author | Agnieszka Kempińska-Podhorecka Ewa Wunsch Tomasz Jarowicz Joanna Raszeja-Wyszomirska Beata Loniewska Mariusz Kaczmarczyk Małgorzata Milkiewicz Piotr Milkiewicz |
| author_facet | Agnieszka Kempińska-Podhorecka Ewa Wunsch Tomasz Jarowicz Joanna Raszeja-Wyszomirska Beata Loniewska Mariusz Kaczmarczyk Małgorzata Milkiewicz Piotr Milkiewicz |
| author_sort | Agnieszka Kempińska-Podhorecka |
| collection | DOAJ |
| description | Primary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and their potential association with the course of the disease has not been studied. In this paper we investigated the incidence and correlation of three VDR polymorphisms (BsmI, ApaI or TaqI) with various clinical, biochemical, and serological factors in a homogenous group of 143 Caucasian patients with PBC. Control group comprises 306 DNA samples from umbilical cord blood of healthy newborn children. When compared to controls, we observed a significant dominance of the b allele in the BsmI (OR = 1.69 [1.27–2.24]; P=0.0003) and t allele in the TaqI (OR = 0.62 [0.47–0.82], P=0.0001) in patients with PBC. Moreover the BsmI and TaqI polymorphisms were associated with the presence of advanced fibrosis/liver cirrhosis at the diagnosis of PBC. Pairwise linkage disequilibrium (LD) calculations proved that the analyzed SNPs are within an LD block (100% of LDs were D’>0.9). Our study showed, for the first time, that the analyzed polymorphisms of VRD may exert an effect on a natural history of PBC. |
| format | Article |
| id | doaj-art-ee855e4b3f9c42b280fc858b7161bb04 |
| institution | Kabale University |
| issn | 1687-6121 1687-630X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Gastroenterology Research and Practice |
| spelling | doaj-art-ee855e4b3f9c42b280fc858b7161bb042025-02-03T01:23:58ZengWileyGastroenterology Research and Practice1687-61211687-630X2012-01-01201210.1155/2012/408723408723Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish PopulationAgnieszka Kempińska-Podhorecka0Ewa Wunsch1Tomasz Jarowicz2Joanna Raszeja-Wyszomirska3Beata Loniewska4Mariusz Kaczmarczyk5Małgorzata Milkiewicz6Piotr Milkiewicz7Medical Biology Laboratory, Pomeranian Medical University, Szczecin, PolandLiver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, PolandLiver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, PolandLiver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, PolandDepartment of Neonatal Diseases, Pomeranian Medical University, Szczecin, PolandDepartment of Clinical and Molecular Biochemistry, Pomeranian Medical University, Szczecin, PolandMedical Biology Laboratory, Pomeranian Medical University, Szczecin, PolandLiver Unit and Liver Research Laboratories, Pomeranian Medical University, Szczecin, PolandPrimary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and their potential association with the course of the disease has not been studied. In this paper we investigated the incidence and correlation of three VDR polymorphisms (BsmI, ApaI or TaqI) with various clinical, biochemical, and serological factors in a homogenous group of 143 Caucasian patients with PBC. Control group comprises 306 DNA samples from umbilical cord blood of healthy newborn children. When compared to controls, we observed a significant dominance of the b allele in the BsmI (OR = 1.69 [1.27–2.24]; P=0.0003) and t allele in the TaqI (OR = 0.62 [0.47–0.82], P=0.0001) in patients with PBC. Moreover the BsmI and TaqI polymorphisms were associated with the presence of advanced fibrosis/liver cirrhosis at the diagnosis of PBC. Pairwise linkage disequilibrium (LD) calculations proved that the analyzed SNPs are within an LD block (100% of LDs were D’>0.9). Our study showed, for the first time, that the analyzed polymorphisms of VRD may exert an effect on a natural history of PBC.http://dx.doi.org/10.1155/2012/408723 |
| spellingShingle | Agnieszka Kempińska-Podhorecka Ewa Wunsch Tomasz Jarowicz Joanna Raszeja-Wyszomirska Beata Loniewska Mariusz Kaczmarczyk Małgorzata Milkiewicz Piotr Milkiewicz Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population Gastroenterology Research and Practice |
| title | Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population |
| title_full | Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population |
| title_fullStr | Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population |
| title_full_unstemmed | Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population |
| title_short | Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population |
| title_sort | vitamin d receptor polymorphisms predispose to primary biliary cirrhosis and severity of the disease in polish population |
| url | http://dx.doi.org/10.1155/2012/408723 |
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