title: COL1A1 haplotypes and hip fracture.
abstract: Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured controls, thus becoming a good candidate for predicting increased fracture risk. The aim of our study was to assess the association of this haplotype with fracture risk in Spanish individuals. We recruited two independent groups of ∼100 patients with hip fracture (a total of 203 individuals) and compared the genotype and haplotype distributions of the three SNPs in the fractured patients with those of 397 control individuals from the BARCOS Spanish cohort. We found no association with risk of fracture at the genotype level for any of the SNPs, and no differences in the SNP frequencies between the two groups. At the haplotype level, we found no association between the T-delT-T haplotype and fracture. However, we observed a small but significant (p = 0.03) association with another rare haplotype, G-insT-T, which was slightly overrepresented in the patient group.
authors.affiliation: Departament de Genètica, Universitat de Barcelona, IBUB, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Barcelona, Spain.
authors.forename: Roser
authors.initials: R
authors.lastname: Urreizti
authors.forename: Natàlia
authors.initials: N
authors.lastname: Garcia-Giralt
authors.forename: José A
authors.initials: JA
authors.lastname: Riancho
authors.forename: Jesús
authors.initials: J
authors.lastname: González-Macías
authors.forename: Sergi
authors.initials: S
authors.lastname: Civit
authors.forename: Roberto
authors.initials: R
authors.lastname: Güerri
authors.forename: Guy
authors.initials: G
authors.lastname: Yoskovitz
authors.forename: Patricia
authors.initials: P
authors.lastname: Sarrion
authors.forename: Leonardo
authors.initials: L
authors.lastname: Mellivobsky
authors.forename: Adolfo
authors.initials: A
authors.lastname: Díez-Pérez
authors.forename: Xavier
authors.initials: X
authors.lastname: Nogués
authors.forename: Susana
authors.initials: S
authors.lastname: Balcells
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006620:Hip Fractures / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain