Polymorphisms

Nine polymorphic STR loci in the HLA region in the Shaanxi Han population of China

H. B. Zhang, Wei, S. G., Yu, B., Li, L., and Lai, J. H., Nine polymorphic STR loci in the HLA region in the Shaanxi Han population of China, vol. 11, pp. 2534-2538, 2012.

A large number of microsatellite genetic markers have been identified in the human leukocyte antigen (HLA) region. We investigated genetic polymorphism of the nine short tandem repeat (STR) loci (D6S276, MOGCA, D6S265, MIB, D6S273, G51152, TAP1CA, RING3CA, and D6S291) in the HLA region in the Shaanxi Han population. Using a fluorescence-labeled multiplex-PCR STR typing method, 6-13 alleles were detected in these nine STR loci in 150 unrelated Han Chinese from the region of Shaanxi, China. The distributions of the genotypes at these nine loci were in Hardy-Weinberg equilibrium.

Association of p53 Arg72Pro and MDM2 SNP309 polymorphisms with glioma

J. N. Zhang, Yi, S. H., Zhang, X. H., Liu, X. Y., Mao, Q., Li, S. Q., Xiong, W. H., Qiu, Y. M., Chen, T., and Ge, J. W., Association of p53 Arg72Pro and MDM2 SNP309 polymorphisms with glioma, vol. 11, pp. 3618-3628, 2012.

Epidemiological studies of the association of variants p53 Arg72Pro and MDM2 single-nucleotide polymorphism 309 (SNP309) with glioma risk have produced inconsistent results. The aim of the current study was to evaluate the association of these 2 variants with glioma susceptibility using a meta-analysis approach. For p53 Arg72Pro, 10 case-control studies including 2587 glioma patients and 4061 unrelated controls were identified.

Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis

F. Zhang, Yang, Y., Hu, D., Lei, H., and Wang, Y., Lack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis, vol. 11, pp. 3511-3517, 2012.

Although there have been several studies investigating a possible association between essential hypertension and TSC gene Arg904Gln polymorphisms, the results have been inconsistent. We conducted a meta-analysis of four case-control studies (one study in Europe and three studies in Asia), including 1811 essential hypertension cases and 1381 controls.

Candidate genes for production traits in Nelore beef cattle

P. C. Tizioto, Meirelles, S. L., Tulio, R. R., Rosa, A. N., Alencar, M. M., Medeiros, S. R., Siqueira, F., Feijó, G. L. D., Silva, L. O. C., Júnior, R. A. A. Torres, and Regitano, L. C. A., Candidate genes for production traits in Nelore beef cattle, vol. 11, pp. 4138-4144, 2012.

Meat quality is an important trait for the beef industry. Backfat thickness, ribeye area, and shear force are traits measured late in life, and the investigation of molecular markers associated with these traits can help breeding programs. In cattle, some polymorphisms have been related to production traits.

Vascular endothelial growth factor gene 1154 G/A, 2578 C/A, 460 C/T, 936 C/T polymorphisms and association with recurrent pregnancy losses

H. Şamlı, Demir, B. Ç., Özgöz, A., Atalay, M. A., and Uncu, G., Vascular endothelial growth factor gene 1154 G/A, 2578 C/A, 460 C/T, 936 C/T polymorphisms and association with recurrent pregnancy losses, vol. 11, pp. 4739-4745, 2012.

Vascular endothelial growth factor (VEGF) regulates endothelial cell proliferation, migration and differentiation. VEGF plays a critical role in angiogenesis during placenta formation. We investigated whether VEGF gene polymorphisms are associated with recurrent pregnancy loss. Thirty-eight women with recurrent pregnancy loss and 30 control women with live-born children were recruited from 2010 to 2011 in the region of Bursa, Turkey. VEGF gene polymorphisms were assessed with PCR-RFLP analysis of DNA samples obtained from leukocytes.

Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population

B. Yang, Xu, J. R., Liu, X. M., Yang, Y., Na, X. F., Li, M., and Wang, Y. J., Polymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population, vol. 12, pp. 3821-3829, 2013.

We investigated a possible association of polymorphism of the eNOS gene and essential hypertension in the Chinese Hui population; polymorphisms of rs2070744 (T>C), rs1799983 (G>T), rs1800780 (A>G), and rs3918181 (A>G) loci of the eNOS gene were examined. We found that the genotypic frequencies at rs1799983 and rs1800780 loci differed significantly between patients with essential hypertension and control cohorts.

Impact of MTHFR polymorphisms on methylation of MGMT in glioma patients from Northeast China with different folate levels

N. Liu, Jiang, J., Song, Y. J., Zhao, S. G., Tong, Z. G., Song, H. S., Wu, H., Zhu, J. Y., Gu, Y. H., Sun, Y., Hua, W., and Qi, J. P., Impact of MTHFR polymorphisms on methylation of MGMT in glioma patients from Northeast China with different folate levels, vol. 12, pp. 5160-5171, 2013.

Hypomethylation of the O6-methylguanine-DNA-methyltransferase (MGMT) promoter in glioma cells has been associated with temozolomide resistance. S-adenosylmethionine (SAM), which is produced during folate metabolism, is the main source of methyl groups during DNA methylation. As a key enzyme during folate metabolism, polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) may regulate folate end-products.

Genetic variability among natural populations of Zaprionus indianus (Drosophilidae) in the States of São Paulo and Minas Gerais, Brazil

D. Braganholi, Bélo, M., Bertoni, B. W., Fachin, A. L., Beleboni, R. O., and Zingaretti, S. M., Genetic variability among natural populations of Zaprionus indianus (Drosophilidae) in the States of São Paulo and Minas Gerais, Brazil, vol. 9, pp. 1504-1512, 2010.

Random amplified polymorphic DNA (RAPD) was used to detect polymorphisms among Zaprionus indianus fly populations collected from six municipalities in the States of São Paulo and Minas Gerais, Brazil. This species is an important, recently introduced fruit fly pest of figs and other fruit. Among 21 primers, 16 produced 73 reproducible polymorphic fragments; primer AM-9 produced the greatest number of polymorphic bands (nine), with 52% genetic variability among populations. Genetic divergence analysis of the Z.

STAT3 gene polymorphisms and susceptibility to non-small cell lung cancer

B. Jiang, Zhu, Z. Z., Liu, F., Yang, L. J., Zhang, W. Y., Yuan, H. H., Wang, J. G., Hu, X. H., and Huang, G., STAT3 gene polymorphisms and susceptibility to non-small cell lung cancer, vol. 10, pp. 1856-1865, 2011.

Signal transducer and activator of transcription protein 3 (STAT3) has been implicated in cancer development and is recognized as a type of oncogene. However, association studies of single nucleotide polymorphisms (SNPs) in the STAT3 gene with cancer risk are rare and not available for lung cancer. We examined whether STAT3 polymorphisms are associated with the risk of non-small cell lung cancer (NSCLC). Eight SNPs in the STAT3 gene were genotyped by TaqMan assays in 326 NSCLC cases and 432 controls in a Chinese population.

Interleukin-10 promoter polymorphisms associated with susceptibility to lumbar disc degeneration in a Chinese cohort

W. P. Lin, Lin, J. H., Chen, X. W., Wu, C. Y., Zhang, L. Q., Huang, Z. D., and Lai, J. M., Interleukin-10 promoter polymorphisms associated with susceptibility to lumbar disc degeneration in a Chinese cohort, vol. 10, pp. 1719-1727, 2011.

We investigated a possible association between interleukin (IL)-10 single nucleotide polymorphisms (SNPs) and susceptibility to and severity of lumbar disc degeneration (LDD) in a Chinese cohort of 320 patients with LDD and 269 gender- and age-matched controls. The degree of disc degeneration was determined by magnetic resonance imaging using Schneiderman’s classification. Genetic analysis of IL-10 promoter polymorphisms (at -1082 A/G, -819 T/C, and -592 A/C) was carried out by PCR-RFLP.

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