Polymorphisms

FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III

C. J. C. Addobbati, J. Silva, deAzevêdo, Tavares, N. A. C., Araújo, J., Guimarães, R. L., Brandão, L., Crovella, S., and Sandrin-Garcia, P., “FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III”, vol. 14. pp. 29-33, 2015.

The aim of this study was to perform an association study between seven Fyn-binding protein gene (FYB)-tag single nucleotide polymorphisms (SNPs) and type I diabetes mellitus (T1DM), as well as with disease age of onset. We also assessed the role of FYB SNPs in the insurgence of autoimmune polyglandular syndrome type III (APSIII), characterized by the simultaneous presence of autoimmune thyroid disease and celiac disease, in patients with T1DM from a Northeastern Brazilian population.

1236 C/T and 3435 C/T polymorphisms of the ABCB1 gene in Mexican breast cancer patients

S. A. Gutiérrez-Rubio, Quintero-Ramos, A., Durán-Cárdenas, A., Franco-Topete, R. A., Castro-Cervantes, J. M., Oceguera-Villanueva, A., Jiménez-Pérez, L. M., Balderas-Peña, L. M. A., Morgan-Villela, G., Del-Toro-Arreola, A., and Daneri-Navarro, A., “1236 C/T and 3435 C/T polymorphisms of the ABCB1 gene in Mexican breast cancer patients”, vol. 14, pp. 1250-1259, 2015.

MDR1, which is encoded by the ABCB1 gene, is involved in multidrug resistance (hydrophobic), as well as the elimination of xenotoxic agents. The association between ABCB1 gene polymorphisms and breast cancer risk in different populations has been described previously; however, the results have been inconclusive. In this study, we examined the association between polymorphisms 3435 C/T and 1236 C/T in the ABCB1 gene and breast cancer development in Mexican women according to their menopausal status and molecular classification.

Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries)

J. L. Han, Yang, M., Yue, Y. J., Guo, T. T., Liu, J. B., Niu, C. E., and Yang, B. H., “Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries)”, vol. 14, pp. 1200-1209, 2015.

Tibetan sheep, an indigenous breed, have a wide variety of phenotypes and a colorful coat, which make this breed an interesting model for evaluating the effects of coat-color gene mutations on this phenotypic trait. The agouti signaling protein (ASIP) gene is a positional candidate gene, as was inferred based on previous study.

Genetic variations in microRNA genes and susceptibility to hepatocellular carcinoma

D. Li, Peng, J. J., Tan, Y., Chen, T., Wei, D., Du, M., and Zhang, T., “Genetic variations in microRNA genes and susceptibility to hepatocellular carcinoma”, vol. 14, pp. 1926-1931, 2015.

We conducted a hospital-based case-control study to investigate the effect of the miR-146aG>C and miR-499A>G polymorphisms on the risk of hepatocellular carcinoma (HCC) in a Chinese population. This study was 1:1 matched case-control study consisting of 184 HCC patients and 184 control subjects. miR-146aG>C and miR-499A>G polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism.

Associations between INSR and MTOR polymorphisms in type 2 diabetes mellitus and diabetic nephropathy in a Northeast Chinese Han population

A. N. Zhu, Yang, X. X., Sun, M. Y., Zhang, Z. X., and Li, M., “Associations between INSR and MTOR polymorphisms in type 2 diabetes mellitus and diabetic nephropathy in a Northeast Chinese Han population”, vol. 14, pp. 1808-1818, 2015.

We explored the associations of INSR and mTOR, 2 key genes in the insulin signaling pathway, and the susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Three single-nucleotide polymorphisms (SNPs) (rs1799817, rs1051690, and rs2059806) in INSR and 3 SNPs (rs7211818, rs7212142, and rs9674559) in mTOR were genotyped using the Sequenom MassARRAY iPLEX platform in 89 type 2 diabetes patients without diabetic nephropathy, 134 type 2 diabetes patients with diabetic nephropathy, and 120 healthy control subjects.

Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

R. Camacho-Mejorado, Noris, G., Santana, C., Magaña, J. J., Majluf-Cruz, A., Arellano-Galindo, J., De la Peña, A., Hernández-Juárez, J., Calderón-Aranda, E. S., Meraz-Ríos, M. A., and Gómez, R., “Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies”, vol. 14, pp. 2929-2939, 2015.

We studied the interethnic variation of the MMP-9 microsatellite in the Mestizo and Amerindian populations using blood samples collected from 435 healthy unrelated individuals from the Central Valley of Mexico. DNA samples were genotyped using the -90 (CA)12-27 repeat near the MMP transcriptional start site using capillary electrophoresis. Our data were compared with those from African, Asian, and European populations (N = 729). Both Mestizo and Amerindian populations were in Hardy-Weinberg equilibrium (P ≥ 0.05).

Genome-wide polymorphisms between the parents of an elite hybrid rice and the development of a novel set of PCR-based InDel markers

K. Wang, Zhuang, J. Y., Huang, D. R., Ying, J. Z., and Fan, Y. Y., “Genome-wide polymorphisms between the parents of an elite hybrid rice and the development of a novel set of PCR-based InDel markers”, vol. 14, pp. 3209-3222, 2015.

Genome-wide re-sequencing of the Zhenshan 97 (ZS97) and Milyang 46 (MY46) parents of an elite three-line hybrid rice developed in China resulted in the generation of 9.91 G bases of data with an effective sequencing depth of 11.66x and 11.51x, respectively. Detection of genome-wide DNA polymorphisms, single nucleotide polymorphisms (SNPs), short insertions/deletions (InDels; 1-5 bp), and structural variations (SVs), which is an invaluable variation resource for genetic research and molecular marker-assisted breeding, was conducted by comparing whole-genome re-sequencing data.

IL-10 and IL-12B gene polymorphisms in a multiethnic Malaysian population

S. S. Sam, Teoh, B. T., and AbuBakar, S., “IL-10 and IL-12B gene polymorphisms in a multiethnic Malaysian population”, vol. 14, pp. 3257-3263, 2015.

Inheritance of polymorphisms in the interleukin (IL)-10 promoter and IL-12B genes, which influence cytokine production and activities, may define the balance in T helper response in infection and autoimmune diseases. In the present study, we investigated the distribution of the IL-10 promoter and IL-12B gene polymorphisms in a multiethnic Malaysian population.

Polymorphisms of the Osteocrin gene and its association with meat quality traits in Qinchuan cattle

Y. F. Huangfu, Zan, L. S., Adoligbe, C., Wang, H. B., Wang, H., and Gao, J. B., “Polymorphisms of the Osteocrin gene and its association with meat quality traits in Qinchuan cattle”, vol. 14, pp. 4890-4895, 2015.

Here, we detected 2 SNPs, A85C and T335C, that were located on the 3rd exon and the 3 untranslated regions of the bovine Osteocrin gene, respectively, using 413 Qinchuan cattle DNA samples. PCR-SSCP and DNA sequencing methods were specifically used. Three genotypes (AA, AC, and CC) were found at A85C; yet, only 2 genotypes (TC and CC) were found at T335C. Association analysis showed that both loci were associated with certain meat quality traits, including back fat thickness and loin muscle area. At the A85C locus, individuals with the CC genotype had greater back fat thickness.

Cloning and association analysis of KIT and EDNRB polymorphisms with dominant white coat color in the Chinese raccoon dog (Nyctereutes procyonoides procyonoides)

S. Q. Yan, Bai, C. Y., Qi, S. M., Li, M. L., Si, S., Li, Y. M., and Sun, J. H., “Cloning and association analysis of KIT and EDNRB polymorphisms with dominant white coat color in the Chinese raccoon dog (Nyctereutes procyonoides procyonoides)”, vol. 14, pp. 6549-6554, 2015.

The Chinese raccoon dog (Nyctereutes procyonoides procyonoides) is one of the most important fur-bearing animal species. The dominant white individual, a coat color variant in farmed Chinese raccoon dog, shows a completely white phenotype over the entire body. The KIT and EDNRB genes have been reported to be associated with the dominant white coat color in some mammalian species. In the present study, the full-length coding sequences of KIT and EDNRB were amplified from a dominant white and a wild-type Chinese raccoon dog.

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