Gene polymorphism

Association between survivin gene promoter -31G/C and -644C/T polymorphisms and non-small cell lung cancer

E. Aynaci, Coskunpinar, E., Eren, A., Kum, O., Oltulu, Y. M., Akkaya, N., Turna, A., Yaylim, I., and Yildiz, P., “Association between survivin gene promoter -31G/C and -644C/T polymorphisms and non-small cell lung cancer”, vol. 12, pp. 3975-3982, 2013.

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This genetic variant has been associated with overexpression of survivin at both protein and mRNA levels in cancer cells.

Association of paraoxonase polymorphisms with carotid artery atherosclerosis in essential hypertension patients

L. Han, Xu, X. J., Liang, X. H., and Ma, J., “Association of paraoxonase polymorphisms with carotid artery atherosclerosis in essential hypertension patients”, vol. 12, pp. 5174-5185, 2013.

We investigated the relationships between paraoxonase genetic polymorphisms and essential hypertension in carotid artery atherosclerotic patients. The study included 353 Han participants and 240 Uighur participants from Xinjiang; they were further divided into two groups: essential hypertension with carotid artery atherosclerosis (CAAD group) and essential hypertension without carotid artery atherosclerosis (control group). Genotypes were detected by PCR, followed by restriction analyses with specific endonucleases.

Association of the estrogen receptor-β gene RsaI and AluI polymorphisms with human idiopathic thin endometrium

A. W. Le, Wang, Z. H., Yuan, R., Shan, L. L., Xiao, T. H., Zhuo, R., and Shen, Y., “Association of the estrogen receptor-β gene RsaI and AluI polymorphisms with human idiopathic thin endometrium”, vol. 12, pp. 5978-5985, 2013.

The aim of this study was to investigate the potential correlation between polymorphisms of the estrogen receptor (ER)-β gene (RsaI and AluI) and ethnic Han Chinese human idiopathic thin endometrium. A total of 120 patients with idiopathic thin endometrium and 120 sterility patients with normal endometrium thickness (controls) were included in the study. RsaI and AluI polymorphisms of the ER-β gene were analyzed with polymerase chain reaction-restriction fragment length polymorphism.

Maternal MTHFR C677T polymorphism and congenital heart defect risk in the Chinese Han population: a meta-analysis

K. H. Chen, Chen, L. L., Li, W. G., Fang, Y., and Huang, G. Y., “Maternal MTHFR C677T polymorphism and congenital heart defect risk in the Chinese Han population: a meta-analysis”, vol. 12, pp. 6212-6219, 2013.

Numerous studies have evaluated the association between the maternal C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene and congenital heart defect (CHD) risk in the Chinese Han population. However, the specific association is still controversial. Six separate studies with 1089 subjects in the Chinese Han population on the relationship between the C677T polymorphism and CHDs were analyzed by meta-analysis, upon database search.

IGF-I gene polymorphism, but not its blood concentration, is associated with milk fat and protein in Holstein dairy cows

E. Bonakdar, Rahmani, H. R., Edriss, M. A., and Tabatabaei, B. E. Sayed, “IGF-I gene polymorphism, but not its blood concentration, is associated with milk fat and protein in Holstein dairy cows”, vol. 9, pp. 1726-1734, 2010.

We estimated the allele and genotype frequencies of IGF-I/SnaBI gene polymorphism and the concentration of this protein in Holstein dairy cows. We also examined the association with milk yield (305-day milk yield) and milk components (fat and protein percentage, and 305-day milk protein and fat yield). Blood IGF-I levels were measured and genotyping was performed on 250 Holstein cows of four different herds.

Meta-analysis of epidemiological studies of association of P53 codon 72 polymorphism with bladder cancer

D. B. Li, Wei, X., Jiang, L. H., Wang, Y., and Xu, F., “Meta-analysis of epidemiological studies of association of P53 codon 72 polymorphism with bladder cancer”, vol. 9, pp. 1599-1605, 2010.

Although there have been many studies investigating a possible association between p53 codon 72 polymorphism and risk of bladder cancer, the results have been inconsistent. We conducted a meta-analysis of six epidemiological studies, which included 597 bladder cancer cases and 731 controls. Patients with bladder cancer had a significantly lower frequency of Pro/Arg [odds ratio (OR) = 0.80, 95% confidence interval (CI) = 0.64-0.99], when compared to controls.

Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia

P. Y. Chang, Zhang, X. G., and Su, X. L., “Lack of association of variants of the renal salt reabsorption-related genes SLC12A3 and ClC-Kb and hypertension in Mongolian and Han populations in Inner Mongolia”, vol. 10, pp. 948-954, 2011.

Abnormalities in renal sodium chloride and water reabsorption play important roles in the development of hypertension. Mutations in the genes involved in renal sodium chloride reabsorption can affect blood pressure. Recently, the R904Q variant of the sodium/chloride transporters, member 3 (SLC12A3) gene and the T481S variant of the chloride channel Kb (ClC-Kb) gene were found to be implicated in essential hypertension. We investigated a possible role of the SLC12A3 and ClC-Kb genes in the prevalence of essential hypertension in the Mongolian and Han ethnic groups.

Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China

H. L. Wei, Pei, J. R., Jiang, C. X., Zhou, L. W., Lan, T., Liu, M., and Wang, T., “Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China”, vol. 10, pp. 2996-3001, 2011.

Keshan disease (KD) is an endemic cardiomyopathy associated with selenium deficiency. Recent studies indicate that glutathione peroxidase 1 (GPx1) mutation decreases GPx activity in myocardial cells and increases the risk of KD. To further clarify the correlation between GPx1 polymorphism and KD, we analyzed GPx1 polymorphism, blood selenium levels and GPx activity in KD patients and healthy controls in Heilongjiang Province.

Meta-analysis demonstrates no association between p53 codon 72 polymorphism and prostate cancer risk

M. S. Li, Liu, J. L., Wu, Y., Wang, P., and Teng, H., “Meta-analysis demonstrates no association between p53 codon 72 polymorphism and prostate cancer risk”, vol. 10, pp. 2924-2933, 2011.

We examined whether p53 codon 72 polymorphism confers prostate cancer risk by conducting a meta-analysis. Two investigators independently searched the Pubmed, Embase and CBM databases. This meta-analysis was made of seven case-control studies, that included 892 prostate cancer cases and 1020 healthy controls.

Lack of an association between -308G>A polymorphism of the TNF-α gene and liver cirrhosis risk based on a meta-analysis

D. Chen, Liu, J. L., Liu, Y., Zhu, J., and Wang, S. W., “Lack of an association between -308G>A polymorphism of the TNF-α gene and liver cirrhosis risk based on a meta-analysis”, vol. 10, pp. 2765-2774, 2011.

TNF-α is a potential proinflammatory cytokine that plays an important role in the pathogenesis of liver cirrhosis. We investigated a possible association between TNF-α -308G>A polymorphism and liver cirrhosis risk by conducting a meta-analysis. Publications addressing the association between TNF-α -308G>A and liver cirrhosis risk were selected from the Pubmed and Embase databases. Data were extracted from the studies by two independent reviewers; odds ratio (OR) with a 95% confidence interval (CI) was calculated from these data.

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