title: Collagen type I alpha 1 gene polymorphism in premature ovarian failure.
abstract: BACKGROUND
  Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis is one of the late complications of POF.
  
  
  OBJECTIVE
  To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) in women with POF.
  
  
  METHODS
  We determined the COLIA1 genotypes SS, Ss, ss in 66 women with POF. Single nucleotide polymorphism (G toT substitution) within the Sp 1-binding site in the first intron of the COLIA1 gene was assessed by polymerase chain reaction (PCR) followed by single-stranded conformation polymorphism (SSCP) analysis. Bone mineral density (BMD) was measured at the lumbar spine region by dual X-ray absorptiometry.
  
  
  METHODS
  Kruskal-Wallis ANOVA, Chi-square test, Spearman correlation test.
  
  
  RESULTS
  The relative distribution of COLIA1 genotype alleles was SS - 54.4%, Ss - 41.0% and ss - 4.5%. No significant differences were found between genotype groups in body mass index, age, duration of amenorrhea or BMD. A significant positive correlation was observed between BMI and parity.
  
  
  CONCLUSIONS
  The COLIA1 gene is just one of many genes influencing bone characteristics. It may act as a marker for differences in bone quantity and quality, bone fragility and accelerated bone loss in older women. However, in young women with POF, COLIA1 cannot identify those at higher risk for osteoporosis.
authors.affiliation: School of Medicine, University of Belgrade, Belgrade, Serbia. vujovics@eunet.rs
authors.forename: Svetlana
authors.initials: S
authors.lastname: Vujović
authors.forename: Selma
authors.initials: S
authors.lastname: Kanazir
authors.forename: Miomira
authors.initials: M
authors.lastname: Ivović
authors.forename: Milina
authors.initials: M
authors.lastname: Tancić-Gajić
authors.forename: Milka
authors.initials: M
authors.lastname: Perović
authors.forename: Svetlana
authors.initials: S
authors.lastname: Baltić
authors.forename: Ljiljana
authors.initials: L
authors.lastname: Marina
authors.forename: Marija
authors.initials: M
authors.lastname: Barać
authors.forename: Maja
authors.initials: M
authors.lastname: Ivanisević
authors.forename: Jelena
authors.initials: J
authors.lastname: Micić
authors.forename: Dragan
authors.initials: D
authors.lastname: Micić
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D000367:Age Factors; D015992:Body Mass Index; D015519:Bone Density; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008159:Lumbar Vertebrae / Q000473:pathology; D008875:Middle Aged; D010024:Osteoporosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics; D013223:Statistics as Topic
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain