title: Single nucleotide polymorphisms of nucleotide excision repair and homologous recombination repair pathways and their role in the risk of osteosarcoma.
abstract: OBJECTIVE
  To evaluate the influence of polymorphisms in nucleotide excision repair (NER) and homologous recombination repair (HRR) pathways on the development of osteosarcoma patients.
  
  
  METHODS
  Genotypes of ERCC1 rs11615 and rs3212986, ERCC2 rs1799793 and rs13181, NBN rs709816 and rs1805794, RAD51 rs1801320, rs1801321 and rs12593359, and XRCC3 rs861539 were conducted by Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) assay.
  
  
  RESULTS
  Total 148 osteosarcoma patients and 296 control subjects were collected from Taizhou First People's Hospital. Conditional logistic regression analyses found that individuals carrying with GA+AA genotype of ERCC2 rs1799793 and GC+CC genotype of NBN rs1805794 were significantly associated with increased risk of osteosarcoma, and the ORs(95%CI) were 1.58(1.03-2.41) and 2.66(1.73-4.08), respectively. We found that GA+AA genotype of ERCC2 rs1799793 or GC+CC genotype of NBN rs1805794 were associated with an increased risk of osteosarcoma in females, with ORs(95%CI) of 2.42(1.20-4.87) and 2.01(1.07-4.23), respectively.
  
  
  CONCLUSIONS
  Our results suggest that ERCC2 rs1799793 and NBN rs1805794 polymorphisms were associated with an increased risk for osteosarcoma, which suggests that NER and HRR pathways modulate the risk of developing osteosarcoma.
authors.affiliation: Guojun Jin, Department of Hand and foot Surgery, Taizhou First People's Hospital, Taizhou, China.
authors.forename: Guojun
authors.initials: G
authors.lastname: Jin
authors.affiliation: Min Wang, Department of Orthopedics, Taizhou First People's Hospital, Taizhou, China.
authors.forename: Min
authors.initials: M
authors.lastname: Wang
authors.affiliation: Weida Chen, Department of Hand and foot Surgery, Taizhou First People's Hospital, Taizhou, China.
authors.forename: Weida
authors.initials: W
authors.lastname: Chen
authors.affiliation: Wei Shi, Department of Hand and foot Surgery, Taizhou First People's Hospital, Taizhou, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Shi
authors.affiliation: Jiapeng Yin, Department of Burns and Plastic Surgery, First Affiliated Hospital of Xiamen University, Xiamen, China.
authors.forename: Jiapeng
authors.initials: J
authors.lastname: Yin
authors.affiliation: Wang Gang, Department of Hand and foot Surgery, Taizhou First People's Hospital, Taizhou, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Gang
keywords: Homologous recombination repair; Nucleotide excision repair; Osteosarcoma; Single Nucleotide Polymorphism