Single nucleotide polymorphism

Genome-wide association study on growth traits in Colombian creole breeds and crossbreeds with Zebu cattle

R. Martínez, Gómez, Y., and Rocha, J. F. M., Genome-wide association study on growth traits in Colombian creole breeds and crossbreeds with Zebu cattle, vol. 13, pp. 6420-6432, 2014.

Whole genome selection represents an important tool for improving parameters related to the production of livestock. In order to build genomic selection indexes within a particular breed, it is important to identify polymorphisms that have the most significant association with a desired trait. A genome-wide marker association approach based on the Illumina BovineSNP50 BeadChipTM was used to identify genomic regions affecting birth weight (BW), weaning weight (WW), and daily weight gain (DWG) in purebred and crossbred creole cattle populations.

Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population

H. C. Liu, Zhang, J., Wong, S., Han, D., Zhao, H. S., and Feng, H. L., Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population, vol. 13, pp. 7133-7139, 2014.

Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. In this study, we extended this investigation to 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females).

New polymorphisms in the novel LYRM1 gene are associated with body measurement and meat quality traits in Qinchuan cattle

Y. K. Li, Huangpu, Y. F., Gao, J. B., Yang, N., Fu, C. Z., Wang, H. B., Cheng, G., and Zan, L. S., New polymorphisms in the novel LYRM1 gene are associated with body measurement and meat quality traits in Qinchuan cattle, vol. 13, pp. 6926-6936, 2014.

Body measurement and meat quality traits play important roles in the evaluation of productivity in cattle; they are influenced by genetic and environmental factors. Recent studies have shown that LYRM1 is a novel gene related to obesity and may influence fat deposition. We screened for new polymorphisms in the bovine LYRM1 gene and analyzed their association with body measurement and meat quality traits in cattle. DNA samples were obtained from 572 Qinchuan cattle aged from 18 to 24 months. DNA sequencing was used to find the LYRM1 single nucleotide polymorphisms (SNPs).

Single nucleotide polymorphisms in candidate genes associated with gastrointestinal nematode infection in goats

F. A. Bressani, Tizioto, P. C., Giglioti, R., Meirelles, S. L. C., Coutinho, R., Benvenuti, C. L., Malagó-Jr., W., Mudadu, M. A., Vieira, L. S., Zaros, L. G., Carrilho, E., and Regitano, L. C. A., Single nucleotide polymorphisms in candidate genes associated with gastrointestinal nematode infection in goats, vol. 13. pp. 8530-8536, 2014.

Cytokines are small cell-signaling proteins that play an important role in the immune system, participating in intracellular communication. Four candidate genes of the cytokine family (IL2, IL4, IL13, and IFNG) were selected to identify Single Nucleotide Polymorphisms (SNPs) that might be associated with resistance to gastrointestinal endoparasites in goats.

Association of SIRT2 gene polymorphisms with body measurement and growth traits of Qinchuan cattle

L. S. Gui, Yang, W. C., Zhao, C. P., Wei, S. J., Zhao, Z. D., and Zan, L. S., Association of SIRT2 gene polymorphisms with body measurement and growth traits of Qinchuan cattle, vol. 13, pp. 8834-8844, 2014.

Silent information regulator 2 (SIRT2), a member of the Sirtuin family of class III nicotinamide adenine dinucleotide-dependent protein deacetylases, plays an important role in senescence, metabolism, and apoptosis. This study was conducted to detect potential polymorphisms of the bovine SIRT2 gene and explore their relationships with meat quality and body measurement traits (BMTs) in Qinchuan cattle.

Effect of ERCC1 polymorphism on the response to chemotherapy and clinical outcome of non-small cell lung cancer

H. Gao, Ge, R. C., Liu, H. Y., Wang, Y., and Yan, S., Effect of ERCC1 polymorphism on the response to chemotherapy and clinical outcome of non-small cell lung cancer, vol. 13, pp. 8997-9004, 2014.

We conducted a cohort study to investigate the role of 3 single-nucleotide polymorphisms of the excision repair cross-complementation group 1 (ERCC1) gene on the response to chemotherapy and clinical outcomes of non-small cell lung cancer (NSCLC). A total of 163 patients with newly diagnosed and histopathologically confirmed primary NSCLC were examined in our study and were followed up until December 2012. ERCC1 rs11615, rs3212986, and rs2298881 were selected and genotyped.

Correlation between IRGM genetic polymorphisms and Crohn’s disease risk: a meta-analysis of case-control studies

Y. Li, Feng, S. - T., Yao, Y., Yang, L., Xing, Y., Wang, Y., and You, J. - H., Correlation between IRGM genetic polymorphisms and Crohn’s disease risk: a meta-analysis of case-control studies, vol. 13, pp. 10741-10753, 2014.

This meta-analysis was performed to evaluate the relationships between single-nucleotide polymorphisms (SNPs) in the immunity-related GTPase M (IRGM) gene and the risk of Crohn’s disease (CD). Eleven case-control studies were included, for a total of 5183 CD patients and 5571 healthy controls. Three common SNPs (rs13361189 C>T, rs10065172 C>T, and rs4958847 A>G) in the IRGM gene were assessed.

Absence of SH2B3 mutation in nonobese diabetic mice

Y. J. Li, Li, X. Y., Guo, X. R., Li, Y., Shen, B. F., Shi, Y. C., and Zhang, J. Y., Absence of SH2B3 mutation in nonobese diabetic mice, vol. 11, pp. 1266-1271, 2012.

Type 1 diabetes is a chronic progressive autoimmune disease characterized by mononuclear cell infiltration, with subsequent destruction of insulin-producing β-cells. Studies have identified strong associations between type 1 diabetes and several chromosome regions, including 12q24. Association between type 1 diabetes and 12q24 arises from SNP rs3184504; rs3184504 is a nonsynonymous SNP in exon 3 of SH2B3 (also known as LNK).

Association of neuropeptide Y and gonadotrophin-releasing hormone receptor gene SNPs with breeding value for growth and egg production traits in Mazandaran native chickens

S. A. Fatemi, Mehrabani-Yeganeh, H., Nejati-Javaremi, A., and Niknafs, S., Association of neuropeptide Y and gonadotrophin-releasing hormone receptor gene SNPs with breeding value for growth and egg production traits in Mazandaran native chickens, vol. 11, pp. 2539-2547, 2012.

Neuropeptide Y (NPY) and gonadotrophin-releasing hormone receptor (GnRHR) are two candidate genes with a wide variety of physiological functions in growth and especially in reproduction processes. We examined the association of one SNP from each of these genes with growth- and egg production-related traits in Mazandaran native chickens. Two hundred and six individuals were genotyped by PCR-RFLP. Marker-trait association analyses were performed using both breeding value and phenotypic information.

Association of DNMT1 and DNMT3B polymorphisms with breast cancer risk in Han Chinese women from South China

M. - Y. Sun, Yang, X. - X., Xu, W. - W., Yao, G. - Y., Pan, H. - Z., and Li, M., Association of DNMT1 and DNMT3B polymorphisms with breast cancer risk in Han Chinese women from South China, vol. 11, pp. 4330-4341, 2012.

Patterns of DNA methylation are established and maintained by a family of DNA methyltransferases (DNMTs). Aberrant promoter DNA methylation of tumor suppressor genes is found in breast cancer. Association studies between DNMT gene polymorphisms and breast cancer in various populations have reported inconsistent results. This study assessed the associations of single nucleotide polymorphisms (SNPs) in DNMT1, DNMT3A, DNMT3B, DNMT3L, and DNMT2 with breast cancer among Han Chinese women from South China.

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