Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population

This study was performed to investigate the association of Single-Nucleotide Polymorphisms (SNPs) in thePFN1 gene with Bone Mineral Density (BMD) as well as bone turnover markers and osteoporotic fractures in Chinese subjects. A total of 2836 unrelated Chinese subjects comprising 1247 healthy subjects and 1589 osteoporotic fractures patients (Fracture group) were enrolled in this study. Seven tagSNPs (rs117337116, rs238243, rs6559, rs238242, rs78224458, rs4790714, and rs13204) of thePFN1 gene were genotyped. The BMD of the lumbar spine 1 –4 (L1-4), femoral neck, and total hip as well as bone turnover markers, such as β-C-Terminal telopeptide of type 1 collagen (β-CTX) and Procollagen type 1 N-terminal Propeptide (P1NP), were measured. The association between 7 tagSNPs and BMD and bone turnover markers was analyzed in 1247 heal thy subjects only. After age matching, we selected 1589 osteoporotic fracture patients (Fracture group) and 756 nonfracture controls (Control group, selected from 1247 healthy subjects) for a case–control study, respectively. For the case–control study, we used logistic regression to investigate the relationship between 7 tagSNPs and osteoporotic fractures risk. In the All group, thePFN1 haplotype GAT was associated with the β-CTX (P = 0.007). In the Female group, thePFN1 haplotype GAT was associated with the β-CTX (P = 0.005). In the Male group, the rs13204, the rs78224458, and thePFN1 haplotype GAC were associated with the BMD of t...
Source: Calcified Tissue International - Category: Orthopaedics Source Type: research