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1790 G/A polymorphism,but not 1772 C/T polymorphism,is significantly associated with Cancers: An update study
Authors:Jie Liu  Hong-xin Zhang
Affiliation:1. Shanghai Key Laboratory for Prevention and Treatment of Bone and Joint Diseases with Integrated Chinese-Western Medicine, Shanghai Institute of Orthopaedics and Traumatology, Department of Orthopaedics, Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, China;2. Research center for experimental medicine, State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui-Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
Abstract:
This study aimed to investigate the association between PASD8 gene and cancers. For 1772 C/T polymorphism (rs11549465), it included 5552 cases and 8044 controls, and for 1790 G/A (rs11549467), 3381 cases and 5830 controls. The allele-analysis results showed that 1772 C/T (rs11549465) was significantly associated with cancers (OR: 1.177, 95% CI: 1.011–1.369, p = 0.035). And results of genotype-analysis indicated that 1790 G/A (rs11549467) had a significant relationship with cancers. (OR: 0.736, 95% CI: 0.595–0.910, p = 0.005). For 1790 G/A (rs11549467), the association was significant when subdivided by different kinds of cancers. And no association existed when subdivided into population-type subgroups. In conclusion, PASD8 gene played an important role in the development of cancers.
Keywords:HIF-1, hypoxia-inducible factor &minus     1   HIF-1α, hypoxia-inducible factor &minus        SNP, single nucleotide polymorphism   OR, odds ratio   CI, confidence interval   HWE, Hardy&ndash  Weinberg equilibrium
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