Polymorphisms

Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico

G. Jaramillo-Rangel, Ortega-Martínez, M., Cerda-Flores, R. M., and Barrera-Saldaña, H. A., Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico, vol. 14. pp. 6465-6471, 2015.

Glutathione S-transferases (GSTs) are a family of phase II metabolizing enzymes involved in carcinogen detoxification and the metabolism of various bioactive compounds. Several genes that code for these enzymes are polymorphic in an ethnicity-dependent manner, with particular genotypes previously associated with an increased risk of breast cancer.

Osteoprotegerin polymorphisms in Chinese Han patients with rheumatoid arthritis

X. H. Ye, Cheng, J. L., and Liu, R. P., Osteoprotegerin polymorphisms in Chinese Han patients with rheumatoid arthritis, vol. 14, pp. 6569-6577, 2015.

In order to investigate the association between osteoprotegerin (OPG) gene polymorphisms and rheumatoid arthritis (RA), we studied OPG rs3102735 T/C and rs2073618 G/C polymorphisms in a Chinese Han population comprising 574 patients with RA and 804 controls. Genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was conducted. Our data indicated that OPG rs3102735 T/C and rs2073618 G/C polymorphisms were not associated with the risk of RA.

Association of IL-4 promoter polymorphisms with asthma: a meta-analysis

L. Tang, Lin, H. G., and Chen, B. F., Association of IL-4 promoter polymorphisms with asthma: a meta-analysis, vol. 13, pp. 1383-1394, 2014.

This study aimed to more precisely assess the correlation between interleukin-4 (IL-4) promoter polymorphisms and the susceptibility risk of asthma. We conducted association studies on IL-4 promoter C-33T, C-589T, and G-1098T polymorphisms with asthma using data obtained from MEDLINE up to September 2011. Results showed that the polymorphisms IL-4 C-33T and C-589T were significantly associated with asthma; however, significant associations were found only in the European population.

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Y. P. Liao, Zhang, D., Zhou, W., Meng, F. M., Bao, M. S., Xiang, P., and Liu, C. Q., Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China, vol. 13, pp. 1764-1773, 2014.

We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome. We investigated 76 Down syndrome mothers and 115 control mothers from Bengbu, China. Genomic DNA was isolated from the peripheral lymphocytes. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFD G1958A and TC C776G.

Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle

N. Yang, Zan, L. S., Li, Y. K., Gao, J. B., Ma, X. H., Fu, C. Z., Wang, H., and Adoligbe, C., Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle, vol. 13, pp. 2130-2139, 2014.

The delta-like 2 homolog (DLK2) modulates adipogenesis, hematopoiesis, osteogenesis, and other cell-differentiation processes. In the present study, we detected potential polymorphisms in the DLK2 gene in 604 individuals of Qinchuan cattle by using PCR-RFLP and DNA-sequencing methods. Herein, we identified five novel single-nucleotide polymorphisms (SNPs) (g.888G>A, g.910A>G, g.995G>A, g.4321A>G, g.4850A>G) and analyzed their association with measured traits.

Genetic variation in ERCC1 and XPF genes and breast cancer risk

X. H. Pei, Yang, Z., Lv, X. Q., and Li, H. X., Genetic variation in ERCC1 and XPF genes and breast cancer risk, vol. 13, pp. 2259-2267, 2014.

Breast cancer is one of the most frequently diagnosed cancer in women worldwide, and we conducted a case-control study by genotyping seven potentially functional SNPs, three in ERCC1 and four in XPF, in a Chinese population of 417 breast cancer cases and 417 cancer-free controls. Three SNPs in ERCC1 and four SNPs in XPF were genotyped by using the Taqman Universal PCR Master Mix in the GeneAmp® PCR System 9700 with Dual 384-Well Sample Block Module, and assays were performed on a 384-well plate on the Sequenom MassARRAY platform.

Association of GSTTI and GSTM1 variants with acute myeloid leukemia risk

Y. M. Zi, Wu, S., Ma, D., Yang, C., Yang, M., Huang, Y., and Yang, S. J., Association of GSTTI and GSTM1 variants with acute myeloid leukemia risk, vol. 13, pp. 3681-3685, 2014.

We aimed to investigate the relationships between polymorphisms of the glutathione S-transferases (GSTs) GSTM1, GSTTI, and GSTP1 and the risk of developing acute myeloid leukemia (AML). A total of 206 AML cases and 231 controls were collected for our study. The genotyping of GSTs (GSTM1, GSTTI, and GSTP1) was based upon the duplex polymerase chain reaction with the confronting two-pair primer (PCR-CTPP) method.

Association of MMP7-181A/G and MMP13-77A/G polymorphisms with colorectal cancer in a Mexican population

J. M. Moreno-Ortiz, Gutierrez-Angulo, M., Partida-Pérez, M., Peregrina-Sandoval, J., Ramírez-Ramírez, R., Muñiz-Mendoza, R., Suárez-Villanueva, S., Centeno-Flores, M., Maciel-Gutiérrez, V., Cabrales-Vazquez, J. E., and Ayala-Madrigal, M. L., Association of MMP7-181A/G and MMP13-77A/G polymorphisms with colorectal cancer in a Mexican population, vol. 13, pp. 3537-3544, 2014.

Colorectal cancer (CRC) is characterized by enhanced expression and activity of several metalloproteinases (MMPs), including MMP13 and MMP7, which play an important role in tumor invasion and metastasis. The objective of this study was to analyze the association of functional MMP7-181A/G and MMP13-77A/G promoter polymorphisms with susceptibility to CRC in a Mexican population. Genomic DNA samples were obtained from peripheral blood of 102 CRC patients and 125 blood donors who were included as the control group.

Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk

W. K. Zhou, Huang, L. Y., Hui, L., Wang, Z. W., Jin, B. Z., Zhao, X. L., Zhang, X. Z., Wang, J. X., Wang, J. C., and Wang, R. Z., Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk, vol. 13, pp. 3826-3831, 2014.

We aimed to investigate the role of 4 single nucleotide polymorphisms of the xeroderma pigmentosum complementation group F (XPF) gene (rs3136038, rs1799798, rs1800067, and rs2276466) in glioma, and the roles of gene-gene interactions in the risk of developing this type of cancer. We collected samples from 225 glioma cases and 262 controls and genotyped the rs3136038, rs1799798, rs1800067, and rs2276466 polymorphisms using a 384-well plate format with the Sequenom MassARRAY platform.

Association between polymorphisms in ADAM33, CD14, and TLR4 with asthma in the Uygur population in China

J. Wang, Simayi, M., Wushouer, Q., Xia, Y., He, Y., Yan, F., Zhang, J., Cui, S., and Wen, H., Association between polymorphisms in ADAM33, CD14, and TLR4 with asthma in the Uygur population in China, vol. 13, pp. 4680-4690, 2014.

We evaluated the associations between single nucleotide polymorphisms (SNPs) and haplotypes of the genes encoding a disintegrin and metalloproteinase 33 (ADAM33), cluster of differentiation 14 (CD14), and Toll-like receptor 4 (TLR4) and the susceptibility of developing specific adult phenotypes of bronchial asthma in a Chinese Uygur population.

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