title: Association of primary biliary cirrhosis with vitamin D receptor BsmI genotype polymorphism in a Hungarian population.
abstract: 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.
authors.affiliation: 3rd Department of Medicine, Semmelweis University, Budapest, Hungary.
authors.forename: B
authors.initials: B
authors.lastname: Halmos
authors.forename: F
authors.initials: F
authors.lastname: Szalay
authors.forename: T
authors.initials: T
authors.lastname: Cserniczky
authors.forename: E
authors.initials: E
authors.lastname: Nemesanszky
authors.forename: P
authors.initials: P
authors.lastname: Lakatos
authors.forename: S
authors.initials: S
authors.lastname: Barlage
authors.forename: G
authors.initials: G
authors.lastname: Schmitz
authors.forename: L
authors.initials: L
authors.lastname: Romics
authors.forename: A
authors.initials: A
authors.lastname: Csaszar
mesh_terms: D015519:Bone Density; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006814:Hungary; D008105:Liver Cirrhosis, Biliary / Q000235:genetics* / Q000503:physiopathology; D008161:Lumbosacral Region; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics*; D012016:Reference Values
chemical_list: D018167:Receptors, Calcitriol