title: Insulin-like growth factor I gene microsatellite repeat, collagen type Ialpha1 gene Sp1 polymorphism, and bone disease in primary biliary cirrhosis.
abstract: BACKGROUND
  Genetic factors have been implicated in the pathogenesis of osteoporosis, a common disorder in primary biliary cirrhosis. Insulin-like growth factor I (IGF-I) gene microsatellite repeat polymorphism was found to be associated with osteoporosis in some studies, and collagen-Ialpha1 (COLIA1) Sp1 s allele was associated with lower bone mineral density in primary biliary cirrhosis. IGF-I treatment restored osteopenia and reduced fibrogenesis in experimental cirrhosis. We investigated IGF-I and COLIA1 gene polymorphisms and bone mineral density in Hungarian primary biliary cirrhosis patients.
  
  
  METHODS
  Seventy female patients with primary biliary cirrhosis were enrolled (mean age 57.6 years, range 37-76 years; all anti-mitochondrial antibody M2-positive; stage II-IV). One hundred and thirty-nine age-matched female subjects served as controls (mean age 55.9 years, range 43-72 years). COLIA1 and IGF-I polymorphisms were determined by polymerase chain reaction. Bone mineral density was measured by dual-energy X-ray absorptiometry in the lumbar spine and femoral neck.
  
  
  RESULTS
  The IGF-I was not different between primary biliary cirrhosis patients and controls. The genotype frequency of COLIA1 polymorphism was also not different between primary biliary cirrhosis patients and controls. However, the s allele was significantly less frequent in patients with primary biliary cirrhosis. Osteoporosis was detected in 22 patients. The IGF-I 192/192 genotype was associated with higher femoral-neck z-scores compared with other genotypes.
  
  
  CONCLUSIONS
  In contrast to previous studies, the s allele was less frequent in patients with primary biliary cirrhosis, and its presence was not associated with bone mineral density. Since IGF-I polymorphism was associated with bone mineral density, it may be hypothesised that not COLIA1 but IGF-I together with other genetic and environmental factors may be involved in the complex regulation of bone mineral density in primary biliary cirrhosis.
authors.affiliation: First Department of Medicine, Semmelweis University, Budapest. kislakpet@bel1.sote.hu
authors.forename: Peter Laszlo
authors.initials: PL
authors.lastname: Lakatos
authors.forename: Eva
authors.initials: E
authors.lastname: Bajnok
authors.forename: Istvan
authors.initials: I
authors.lastname: Tornai
authors.forename: Aniko
authors.initials: A
authors.lastname: Folhoffer
authors.forename: Andrea
authors.initials: A
authors.lastname: Horvath
authors.forename: Peter
authors.initials: P
authors.lastname: Lakatos
authors.forename: Andrzej
authors.initials: A
authors.lastname: Habior
authors.forename: Ferenc
authors.initials: F
authors.lastname: Szalay
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005787:Gene Frequency; D016678:Genome; D006801:Humans; D006814:Hungary; D007334:Insulin-Like Growth Factor I / Q000235:genetics* / Q000627:therapeutic use; D008105:Liver Cirrhosis, Biliary / Q000150:complications / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D010024:Osteoporosis / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018709:Statistics, Nonparametric
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D007334:Insulin-Like Growth Factor I