title: Association of common variants inMTAPwith susceptibility and overall survival of osteosarcoma: a two-stage population-based study in Han Chinese.
abstract: Osteosarcoma (OS) is a common malignant tumor, which exists widely in the bone of children and adolescents, and genetic factors may influence its susceptibility. Recently, the geneMTAPhas been reported to be associated with OS in a Caucasian population. To investigate the association of common variants inMTAPwith OS risk in Han Chinese individuals, we designed a two-stage case-control study with 392 OS patients and 1,578 unrelated healthy controls of Han Chinese individuals. A total of 17 tagging single nucleotide polymorphisms (SNPs) were firstly genotyped in the discovery stage, and single-SNP association and haplotypic association analyses have been performed. The SNP rs7023329 was found to be strongly associated with the OS risk (adjustedP= 0.002908), and the results of odds ratios (ORs) and 95% confidence intervals (CI) revealed increased risks from A allele of the SNP on OS (OR=1.33, 95% CI=1.13-1.62). The results were confirmed with a similar pattern in the validation stage (adjustedP= 0.006737, OR=1.49, 95% CI=1.11-2.00). Moreover, haplotypic analyses indicated that one haplotype block containing rs7023329 was significantly associated with OS risk in both stages (both globalP<0.0001). The statistically significant association between the rs7023329 genotype and poor survival in OS patients was also observed. To sum up, our results prove thatMTAPplays an important role in the etiology of OS, suggesting this gene as a potential genetic modifier for OS development.
authors.affiliation: Department of Orthopedic, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
authors.forename: Liqiang
authors.initials: L
authors.lastname: Zhi
authors.affiliation: Department of Rheumatology and Immunology, the Fifth Hospital of Xi'an, Xi'an, China.
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.affiliation: Department of Energy, Environment and Chemical Engineering, Washington University, Saint Louis, MO, USA.
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Wu
authors.affiliation: Department of Orthopedic, Xijing Orthopedic Hospital, the Fourth Military Medical University, Xi'an, China.
authors.forename: Tianqing
authors.initials: T
authors.lastname: Li
authors.affiliation: Department of Orthopedic, Hong-hui Hospital, Xi'an Jiaotong University College of Medicine, Xi'an, China.
authors.forename: Guanghui
authors.initials: G
authors.lastname: Zhao
authors.affiliation: Department of Orthopedic, the Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Orthopedic, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Li
keywords: Case-control studies; Common variants; Han Chinese; MTAP; Osteosarcoma susceptibility