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Association of RECQL5 gene polymorphisms and osteosarcoma in a Chinese Han population

  • Research Article
  • Published:
Tumor Biology

Abstract

Despite the knowledge on many genetic variants present in osteosarcoma, the complexity of this disease precludes placing its biology into a simple conceptual framework. RECQL is a DNA helicase involved in DNA mismatch repair and has been reported to be associated with many human cancers. We aimed to investigate the association of RECQL genetic polymorphism with osteosarcoma in a Chinese population. We selected three polymorphisms of the RECQL5 gene (rs820196, rs820200, and rs4789223) in the present study. TaqMan method was utilized for genotyping these three SNPs in 212 patients with osteosarcoma and 240 age- and sex-matched noncancer controls. In our study, we found that CC genotype in rs820196 (17.5 vs 8.3 %, P = 0.005) and AA genotype in rs4789223 (21.7 vs 14.2, P < 0.001) were more frequent in osteosarcoma group compared to the control group, respectively. We also found that the C allele of rs820196 (OR = 1.492, 95 % CI 1.138∼1.951; P = 0.004) and A allele of rs4789223 (OR = 1.767, 95 % CI: 1.354 ∼ 2.301; P < 0.001) were common in the osteosarcoma patients than those in the control subjects, respectively. Haplotype analysis showed that TTA (OR = 3.469, 95 % CI 1.798∼6.695; P < 0.001) was associated with increased risk for osteosarcoma. However, the TTG (OR = 0.578, 95 % CI 0.442∼0.756) was associated with decreased risk for osteosarcoma. Our results suggested that RECQL5 genetic polymorphisms were associated with osteosarcoma in a Chinese population.

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Authors and Affiliations

  1. Department of Orthopedics, The First Affiliated Hospital of Xi’an Jiaotong University, No. 227, YanTa West Rd, Xi’an, 710061, China

    Li-Qiang Zhi, Wei Ma & Si-Xiang Zeng

  2. Medical Research Center of Shaanxi University of Chinese Medicine, Xi’an, China

    Hong Zhang

  3. Department of Orthopedics, Xijing Hospital, The Fourth Military Medical University, Xi’an, China

    Bo Chen

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  1. Li-Qiang Zhi
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  2. Wei Ma
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  3. Hong Zhang
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  4. Si-Xiang Zeng
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  5. Bo Chen
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Correspondence to Wei Ma.

Additional information

Wei Ma and Hong Zhangcontributed equally to this work.

Si-Xiang Zeng and Bo Chen contributed equally to this work.

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Zhi, LQ., Ma, W., Zhang, H. et al. Association of RECQL5 gene polymorphisms and osteosarcoma in a Chinese Han population. Tumor Biol. 35, 3255–3259 (2014). https://doi.org/10.1007/s13277-013-1425-4

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  • DOI: https://doi.org/10.1007/s13277-013-1425-4

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