Association of primary biliary cirrhosis with vitamin D receptor bsmi genotype polymorphism in a Hungarian population

• Published in: Digestive diseases and sciences Vol. 45; no. 6; pp. 1091 - 1095
• Main Authors: HALMOS, B, SZALAY, F, CSERNICZKY, T, NEMESANSZKY, E, LAKATOS, P, BARLAGE, S, SCHMITZ, G, ROMICS, L, CSASZAR, A
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Heidelberg Springer 01-06-2000; Springer Nature B.V
• Subjects: Biological and medical sciences; Bone Density; Female; Gastroenterology. Liver. Pancreas. Abdomen; Gene Frequency; Genotype; Humans; Hungary; Liver Cirrhosis, Biliary - genetics; Liver Cirrhosis, Biliary - physiopathology; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Lumbosacral Region; Medical sciences; Middle Aged; Other diseases. Semiology; Polymorphism, Genetic - genetics; Receptors, Calcitriol - genetics; Reference Values; Hungary; Human; Immunopathology; Diseases of the osteoarticular system; Hepatic disease; Autoimmune disease; Genotype; Receiver; Biliary cirrhosis; Biliary tract disease; Genetic determinism; Epidemiology; Incidence; Primitive; Vitamin D; Mineralization; Predisposition; Digestive diseases; Biological effect; Bone; Polymorphism
• ISSN: 0163-2116; 1573-2568
• DOI: 10.1023/A:1005581414918

We sought to determine the distribution of vitamin D receptor genotypes defined by the BsmI polymorphism and to investigate their association with bone mineral density in patients with primary biliary cirrhosis. Vitamin D receptor genotype and bone mineral density at the lumbar spine was determined in 31 female Hungarian patients with primary biliary cirrhosis and 51 age-matched healthy female controls. The genotype frequency (BB: 45%, Bb: 32%, bb: 22%) of the patients was significantly different from the control group (P = 0.01) due to an overrepresentation of the BB genotype. There was an apparent trend, not reaching statistical significance, for a lower bone mineral density in both the patient and control groups carrying a B allele. In conclusion, we found a strikingly high frequency of the BB genotype in patients with primary biliary cirrhosis, which raises questions about hormonal influences on the development of primary biliary cirrhosis.