Polymorphism

Influence of interleukin-17 gene polymorphisms on the development of pulmonary tuberculosis

G. - C. Shi and Zhang, L. - G., “Influence of interleukin-17 gene polymorphisms on the development of pulmonary tuberculosis”, vol. 14, pp. 8526-8531, 2015.

We conducted a case-control study in a Chinese population to examine the correlations between interleukin (IL)-17 gene polymorphisms and tuberculosis (TB) development. The study population included 336 TB subjects and 351 control subjects who were enrolled between June 2012 and June 2014. Genotyping analyses of IL-17A rs2275913 and rs3748067 and IL-17F rs763780 were analyzed using polymerase chain reaction-restriction fragment length of polymorphism.

Association of the p53 Arg72Pro polymorphism with esophageal cancer in Chinese populations: a meta-analysis

J. Z. Peng, Xue, L., Liu, D. G., and Lin, Y. H., “Association of the p53 Arg72Pro polymorphism with esophageal cancer in Chinese populations: a meta-analysis”, vol. 14, pp. 9024-9033, 2015.

Although many epidemiologic studies have investigated the p53 codon 72 polymorphism and its association with esophageal cancer (EC) in China, definite conclusions could not be drawn. To clarify the effects of p53 codon 72 polymorphism on the risk of EC, we performed a meta-analysis on the Chinese population. A total of 13 studies including 3308 patients and 5115 controls were involved in this meta-analysis.

Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population

S. K. Kim, Chung, J. - H., Park, H. J., Kang, S. W., Lim, D. - J., Byun, S. H., Baek, D. G., Ko, H. Y., Lew, B. - L., Baik, H. H., and Sim, W. - Y., “Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population”, vol. 14, pp. 9667-9674, 2015.

Alopecia areata (AA) is a common disease, which causes hair loss in humans. AA has a genetically complex inheritance. This study investigated the possible correlations between single nucleotide polymorphisms (SNPs) in the promoter regions of the chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1) and chemokine (C-X-C motif) ligand 2 (CXCL2) genes and the development of AA in the Korean population. Two hundred and thirty-five AA patients and 240 control subjects were recruited.

Estrogen receptor 1 PvuII and XbaI polymorphisms and susceptibility to Alzheimer’s disease: a meta-analysis

Y. H. Lee and Song, G. G., “Estrogen receptor 1 PvuII and XbaI polymorphisms and susceptibility to Alzheimer’s disease: a meta-analysis”, vol. 14, pp. 9361-9369, 2015.

The aim of this study was to explore whether estrogen receptor 1 (ESR1) PvuII and XbaI polymorphisms are associated with susceptibility to Alzheimer’s disease (AD). We conducted a meta-analysis of the associations between AD and ESR1 PvuII and XbaI polymorphisms as well as haplotypes of the ESR1 PvuII and XbaI polymorphisms.

Association between ERCC1 and ERCC2 gene polymorphisms and chemotherapy response and overall survival in osteosarcoma

Z. H. Cao, Yin, H. P., Jiang, N., and Yu, B., “Association between ERCC1 and ERCC2 gene polymorphisms and chemotherapy response and overall survival in osteosarcoma”, vol. 14, pp. 10145-10151, 2015.

We aimed to evaluate the influence of four SNPs in ERCC1 and ERCC2 on the response to cisplatin-based treatment and on clinical outcome in patients with osteosarcoma. We identified 186 patients with osteosarcoma diagnosed between April 2009 and April 2011 who were eligible for inclusion in our study. Genotyping of ERCC1 rs11615, rs3212986, and rs2298881; and ERCC2 rs1799793 and rs13181 was conducted by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.

Association between PAI-1 polymorphisms and plasma PAI-1 level with sepsis in severely burned patients

Y. F. Chi, Chai, J. K., Yu, Y. M., Luo, H. M., Zhang, Q. X., and Feng, R., “Association between PAI-1 polymorphisms and plasma PAI-1 level with sepsis in severely burned patients”, vol. 14, pp. 10081-10086, 2015.

We investigated the association between plasminogen activator inhibitor-1 (PAI-1) polymorphisms and plasma PAI-1 level with sepsis in severely burned patients. A total of 182 patients with burn areas lager than 30% of the body surface area were enrolled in this study. Peripheral blood samples were obtained from 103 patients with sepsis (sepsis group) and 79 patients without sepsis (control group). An allele-specific polymerase chain reaction assay was used to determine PAI-1 polymorphism 4G/5G distribution.

Association of GSTP1 and XRCC1 gene polymorphisms with clinical outcomes of patients with advanced non-small cell lung cancer

J. Y. Liu, Li, L. R., and Liu, Q. M., “Association of GSTP1 and XRCC1 gene polymorphisms with clinical outcomes of patients with advanced non-small cell lung cancer”, vol. 14, pp. 10331-10337, 2015.

We investigated the association between the polymorphisms GSTP1 rs1695 and XRCC1 rs1799782 and rs25487 and the clinical outcome of patients with non-small cell lung cancer (NSCLC) receiving cisplatin-based chemotherapy. Genotyping of GSTP1 rs1695 and XRCC1 rs1799782, and rs25487 was conducted by polymerase chain reaction-restriction fragment length polymorphism analysis.

Predictive potential role of glutathione S-transferase polymorphisms in the prognosis of breast cancer

X. Wang and Huang, Z. H., “Predictive potential role of glutathione S-transferase polymorphisms in the prognosis of breast cancer”, vol. 14, pp. 10236-10241, 2015.

The current study aimed at evaluating the associa­tion between GSTM1 null/present, GSTT1 null/present, and GSTP1 IIe105Val polymorphisms and clinical response to chemotherapy and treatment outcome of breast cancers patients. Genotyping of GSTP1 rs1695, GSTT1 deletion, and GSTM1 deletion was performed by Polymerase Chain Reaction Restriction Fragment Length Polymor­phism (PCR-RFLP) assay.

Association between SNPs in vascular endothelial growth factor polymorphisms and risk of renal cell carcinoma: a case-control study

B. - L. Shen, Qu, Q. - S., Miao, S. - Z., and Zhang, Y. - X., “Association between SNPs in vascular endothelial growth factor polymorphisms and risk of renal cell carcinoma: a case-control study”, vol. 14, pp. 11119-11125, 2015.

We conducted this case-control study to assess the role of the VEGF -2578C/A, +1612G/A, +936C/T and -634G/C gene polymorphisms in the development of renal cell carcinoma (RCC). A hospital-based case-control study was conducted in a 360 consecutive primary RCC patients and 360 age and gender-matched controls during January 2010 and January 2014. The polymerase chain reaction-restriction fragment length polymorphism was used for VEGF -2578C/A, +1612G/A, +936C/T and -634G/C genotyping.

Identification of polymorphisms associated with production traits on chicken (Gallus gallus) chromosome 4

F. Pértille, Zanella, R., Felício, A. M., Ledur, M. C., Peixoto, J. O., and Coutinho, L. L., “Identification of polymorphisms associated with production traits on chicken (Gallus gallus) chromosome 4”, vol. 14, pp. 10717-10728, 2015.

Genetic selection for production traits has resulted in a rapid improvement in animal performance and development. Previous studies have mapped quantitative trait loci for body weight at 35 and 41 days, and drum and thigh yield, onto chicken chromosome 4. We investigated this region for single nucleotide polymorphisms and their associations with important economic traits. Three positional candidate genes were studied: KLF3 (Krüeppel-like factor 3), SLIT2 (Slit homolog 2), and PPARGC1A (peroxisome proliferator-activated receptor gamma, coactivator 1 alpha).

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