title: Genetic polymorphisms in COL18A1 influence the development of osteosarcoma.
abstract: We conducted a case-control study to investigate the association of COL18A1 D104N polymorphism in the development of osteosarcoma in a Chinese population. Between May 2012 and May 2014, 141 patients with pathologically proven osteosarcoma and 341 were selected into this study. Genotyping of COL18A1 D104N was analyzed using polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP). By logistic regression analysis, we found that individuals with the NN genotype of COL18A1 D104N were significantly associated with an increased risk of osteosarcoma when compared with the DD genotype (OR=20.97, 95% CI=2.74-933.42). In dominant model, the NN+DN genotype of COL18A1 D104N had a 1.99 fold risk of osteosarcoma when compared with the DD genotype. Moreover, the NN genotype was correlated with a 20.45 fold risk of osteosarcoma when compared with the DN+DD genotype in recessive model. However, we did not find significant interaction between COL18A1 D104N polymorphism and Enneking stage, histological subtype, tumor metastasis and tumor location of patients with osteosarcoma. In conclusion, our study suggests that the homozygous DN and NN genotypes of COL18A1 D104N were associated with the risk of osteosarcoma.
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Zhihao
authors.initials: Z
authors.lastname: Guo
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Tianji
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Juntao
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Hongwei
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Xiaotan
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Orthopedics, The Third Affiliated Hospital of Xinxiang Medical University Xinxiang, China.
authors.forename: Linqiang
authors.initials: L
authors.lastname: Tian
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D024102:Collagen Type VIII / Q000235:genetics*; D043170:Collagen Type XVIII / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D012516:Osteosarcoma / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012306:Risk; D055815:Young Adult
chemical_list: C000612902:COL18A1 protein, human; D024102:Collagen Type VIII; D043170:Collagen Type XVIII
keywords: COL18A1; osteosarcoma; polymorphism