Single-nucleotide polymorphisms

Single-nucleotide polymorphisms in dopamine receptor D1 are associated with heroin dependence but not impulsive behavior

J. H. Liu, Zhong, H. J., Dang, J., Peng, L., and Zhu, Y. S., “Single-nucleotide polymorphisms in dopamine receptor D1 are associated with heroin dependence but not impulsive behavior”, vol. 14, pp. 4041-4050, 2015.

Previous studies suggested that dopamine receptors may be associated with drug dependence and impulsive behavior. In this study, we examined whether dopamine receptor D1 (DRD1) is associated with heroin dependence and the impulsive behavior in patients with heroin dependence. The participants included 367 patients with heroin dependence and 372 healthy controls from a Chinese Han population.

TGF-β1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients

J. Ma, Liu, Y. C., Fang, Y., Cao, Y., and Liu, Z. L., “TGF-β1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients”, vol. 14, pp. 4461-4468, 2015.

Transforming growth factor-beta 1 (TGF-β1), a member of the transforming growth factor beta family, functions as a multi-functional cytokine and plays a key role in cellular growth, proliferation, and differentiation. The 509 C/T polymorphism in the TGF-β1 gene has been implicated in the outcome of hepatitis C virus (HCV) infection; however, little is known regarding the relationship between TGF-β1 gene mutations and the development of hepatocellular carcinoma (HCC) in HCV-infected patients.

Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma

K. Gao, Mu, S. Q., and Wu, Z. X., “Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma”, vol. 13, pp. 1203-1211, 2014.

Several single-nucleotide polymorphisms (SNPs) in DNA repair gene have been shown to affect DNA repair and to modify susceptibility to cancer. In this study, to investigate the role of these SNPs in glioma, we examined the potential association of 14 SNPs in DNA repair genes with the glioma risk in a Chinese population. We included 326 glioma cases and 376 cancer-free controls. Genotyping of the 14 SNPs was performed on 384-well plates on the Sequenom MassARRAY platform. Of the 14 SNPs, rs1799782 and rs1799793 did not display the Hardy-Weinberg equilibrium in the control group.

Lack of association between MD-2 promoter gene variants and tuberculosis

Y. Xue, Zhao, Z. Q., Hong, D., Zhao, M. Y., Zhang, Y. X., Wang, H. J., Wang, Y., and Li, J. C., “Lack of association between MD-2 promoter gene variants and tuberculosis”, vol. 9, pp. 1584-1590, 2010.

Myeloid differentiation-2 (MD-2) is an essential component of the CD14-TLR4/MD-2 receptor complex involved in microbial cell wall component recognition during infection. Genetic variations in the MD-2 gene may influence human susceptibility to infectious diseases. To date, a predisposition of MD-2 gene variants to contract tuberculosis has not been reported. We investigated whether MD-2 gene polymorphisms were associated with the development of tuberculosis in a Chinese population.

Association of TIRAP (MAL) gene polymorhisms with susceptibility to tuberculosis in a Chinese population

Y. X. Zhang, Xue, Y., Zhao, M. Y., Wang, H. J., Li, J. C., Liu, J. Y., Li, F. J., and Zhou, J. M., “Association of TIRAP (MAL) gene polymorhisms with susceptibility to tuberculosis in a Chinese population”, vol. 10, pp. 7-15, 2011.

Toll-interleukin 1 receptor (TIR) domain containing adaptor protein (TIRAP; also known as MAL) is an essential adaptor molecule in Toll-like receptor signaling, involved in activating the innate immune response during infection. Genetic variations in the TIRAP gene may influence human susceptibility to infectious disease. To date, in the Chinese population, a possible predisposition of TIRAP gene variants to tuberculosis has not been reported.

Single-nucleotide polymorphisms