Association between CTLA - 4 genetic polymorphisms and susceptibility to osteosarcoma in Chinese Han population
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ORIGINAL ARTICLE
Association between CTLA-4 genetic polymorphisms and susceptibility to osteosarcoma in Chinese Han population Jinshan He • Jingcheng Wang • Daxin Wang Shanhe Dai • Tangyun Yv • Pengtao Chen • Renshi Ma • Chunyv Diao • Guohua Lv
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Received: 7 July 2013 / Accepted: 27 August 2013 / Published online: 28 September 2013 Ó Springer Science+Business Media New York 2013
Abstract Osteosarcoma (OS) is the most common malignant primary bone tumor in the world. The cytotoxic T-lymphocyte antigen-4 gene (CTLA-4) is an important candidate gene for influencing the development of OS. This study aimed to investigate the potential association of CTLA-4 genetic polymorphisms with OS risk in Chinese Han population. A total of 415 OS patients and 431 healthy controls were enrolled in this study. The created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods were used to detect the genotyping of CTLA-4 c.75G[C and c.326G[A genetic polymorphisms. We observed that the genotypes/alleles of c.75G[C and c.326G[A genetic polymorphisms were statistically associated with the increased risk of OS (for c.75G[C, CC versus (vs.) GG: OR 1.72, 95 % CI 1.09–2.74; C vs. G: OR 1.30, 95 % CI 1.06–1.60; for c.326G[A, AA vs. GG: OR 2.12, 95 % CI 1.31–3.42; A vs. G: OR 1.31, 95 % CI 1.07–1.61). The allele-C/genotype-CC of c.75G[C and allele-A/genotype-AA of c.326G[A may contribute to OS susceptibility. These data indicate that CTLA-4 genetic polymorphisms are potentially related to OS risk in Chinese Han population, and might be used as molecular markers for evaluating the risk of OS.
J. He G. Lv (&) Department of Spine, The Second Xiangya Hospital Affiliated with Central South University, No. 139 Middle Renmin Road, Changsha 410011, Hunan Province, People’s Republic of China e-mail: [email protected] J. He J. Wang D. Wang S. Dai T. Yv P. Chen R. Ma C. Diao Department of Orthopedics, Subei People’s Hospital, Clinical Medical School of Yangzhou University, Yangzhou 225001, Jiangsu Province, People’s Republic of China
Keywords Osteosarcoma CTLA-4 gene Genetic polymorphisms Molecular markers Risk factors
Introduction Osteosarcoma (OS) is the most common primary malignancy of bone tumor that mainly occurs in adolescents and young adults [1–4]. The annual incidence rate for individuals \20 years of age is 8.7 per million children, and account for about 6 % of childhood cancer [5, 6]. Patients with localized OS at presentation have a 60–80 % rate of long-term survival, while metastatic disease carries a poorer prognosis [7, 8]. The exact mechanism of OS pathogenesis is not well understood. Multiple factors such as genetic mutations and environment factors could affect the development of OS carcinogenesis. It’s generally accepted that genetic factors may play key functions in the pathogenesis of OS [6, 9–14]. Recently, several reports suggest that the cytotoxic T-lymphocyte antigen-4 gene (CTLA-4) is one of the most important candidate genes for influencing the risk of several autoimmune di
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