title: The Effect of Polymorphisms in SPP1 on Risk of Fracture: A Case-Control Study.
abstract: BACKGROUND The purpose of the study was to investigate the correlation between rs4754 and rs6840362 polymorphisms of secreted phosphoprotein 1 (SPP1) gene and fracture risk. MATERIAL AND METHODS rs4754 and rs6840362 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 130 patients with fracture and 107 healthy controls matched with the former by age and sex. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of SSP1 poylmorphisms. The differences in genotype, allele, and haplotype frequencies between cases and controls were detected by the chi-square test, and the relative risk of fracture is expressed by odds ratio (OR) and 95% confidence interval (CI). The linkage disequilibrium (LD) and haplotype analyses were conducted with HaploView software. RESULTS The TT genotype in rs4754 had significant difference in patients with fracture and controls (10.77% and 4.59%, P=0.04) and the results showed that people carrying TT genotype of rs4754 were more susceptible to fractures than CC genotype carriers (OR=3.00, 95%CI=1.02-8.89). The T allele also had 1.54 times higher risk of fractures (OR=1.54, 95%CI=1.04-2.30), but this was not true for the rs6840362 polymorphism. LD between the 2 polymorphisms and haplotype C-T (rs6840362-rs4754) increased the susceptibility to fracture (OR=2.01, 95%CI=1.23-3.28). CONCLUSIONS SPP1 rs4754 polymorphism may be related to risk of fracture, but not rs6840362.
authors.affiliation: Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
authors.forename: Yanpeng
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
authors.forename: Lihai
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
authors.forename: Zhi
authors.initials: Z
authors.lastname: Mao
authors.affiliation: Medical College, Nankai University, Tianjin, China (mainland).
authors.forename: Yahui
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Orthopaedics, Affiliated Hospital of the Academy of Military Medical Sciences, Beijing, China (mainland).
authors.forename: Xiuyun
authors.initials: X
authors.lastname: Su
authors.affiliation: Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
authors.forename: Yanxiang
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Department of Orthopaedics, Chinese PLA General Hospital, Beijing, China (mainland).
authors.forename: Peifu
authors.initials: P
authors.lastname: Tang
mesh_terms: D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D053495:Osteopontin / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D053495:Osteopontin