Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population

Abstract

Osteosarcoma is the most common primary malignancy of bone in young individuals. Genetic factors may play an important role in the tumorigenesis of osteosarcoma. Here we carried out a case-control study to investigate seven NAT2 single-nucleotide polymorphisms (rs1799929, rs120, rs1041983, rs1801280, rs1799930, rs1799931, and rs1801279) on the risk and prognosis of osteosarcoma. This study included 260 young osteosarcoma cases and 286 controls. The TaqMan method was used to determine genotypes. We found that rs1799931 G>A polymorphisms were associated with a decreased risk of osteosarcoma in young Chinese population, and rs1041983 CT genotype seemed to play a protective role in the risk of osteosarcoma. However, further analysis showed that rs1041983 polymorphisms were associated with an elevated risk of tumor metastasis, predicting poor prognosis. This study provided the first evidence for the associations between NAT2 polymorphisms and osteosarcoma risk and metastasis in Chinese population.

Genetic Polymorphisms of Insulin-Like Growth Factor 1 Are Associated with Osteosarcoma Risk and Prognosis

“…Genetic polymorphisms, which can be studied based on blood samples and evaluated by PCR, are good biomarker candidates based on available methodology. In osteosarcoma, some studies have demonstrated promising prognostic roles for biomarkers including NAT2 [ 16 ], WWOX [ 17 ], and TCF21 [ 18 ]. However, in most circumstances, using only one genetic polymorphism factor is not considered reliable due to the limited number of cohorts available that restricts accuracy.…”

Ras-Association Domain Family 1 Isoform A (RASSF1A) Gene Polymorphism rs1989839 is Associated with Risk and Metastatic Potential of Osteosarcoma in Young Chinese Individuals: A Multi-Center, Case-Control Study

“…Given that osteosarcoma is not common, we launched a series of projects involving over 10 high-rank hospitals in the eastern coastal area of China, which has a population of over 100 million, to profile possible genomic predictors. In this series of projects, we discovered that WWOX and NAT2 polymorphisms may be possible predictors for risk of osteosarcoma [19,20]. Herein, we provide evidence that RASSF1A polymorphisms are related to the risk and metastatic potential of osteosarcoma.…”

Association of polymorphisms in WWOX gene with risk and outcome of osteosarcoma in a sample of the young Chinese population

“…Given that osteosarcoma is not a common malignancy, we collected blood samples and tumor tissues of osteosarcoma patients from different hospitals located in East China (which has a stable population of over 100 million) and tried to identify indicators predictive of disease risk. In our previous study, our colleagues found that NAT2 gene polymorphisms were associated with osteosarcoma risk, 4 but the reason for the effects of NAT2 polymorphisms on osteosarcoma risk and outcome has remained unclear. We therefore continued to search for genes involved in osteosarcoma pathogenesis using our blood and tissue sample bank.…”

“…Procedures were followed according to methods described in our previous study. 4 Briefly, the Sequence Detection Software of the ABI StepOnePlus System (Thermo Fisher Scientific, Waltham, MA, USA) was used to collect data. TaqMan ® primers and probes were designed by the ABI Assays-by-Design custom service.…”

“…Studies on SNPs in osteosarcoma are valuable for identifying prognostic markers. Efforts have focused on the identification of reliable associations between polymorphisms in different genes and osteosarcoma risk, such as ERCC , 2 VEGF , 3 NAT2 , 4 etc. However, studies on tumor suppressor gene polymorphisms in osteosarcoma are still limited.…”