SNP

Single nucleotide polymorphism screening, molecular characterization, and evolutionary aspects of chicken Piwi genes

H. Z. Wang, Ma, T., Chang, G. B., Wan, F., Liu, X. P., Lu, L., Xu, L., Chen, J., and Chen, G. H., Single nucleotide polymorphism screening, molecular characterization, and evolutionary aspects of chicken Piwi genes, vol. 14, pp. 14802-14810, 2015.

The P-element-induced wimpy testis (Piwi) gene is involved in germline stem cell self-renewal, meiosis, RNA silencing, and transcriptional regulation. Piwi genes are relatively well conserved in many species, but their function in poultry species is unclear. In this study, Piwi genes were sequenced using a target-sequence capture assay in quail and 28 breeds of chicken. Single nucleotide polymorphisms (SNPs) and evolutionary aspects of these chicken breeds were then analyzed.

A genome-wide analysis of the ultimate pH in swine

H. Y. Chung, Lee, K. T., Jang, G. W., Choi, J. G., Hong, J. G., and Kim, T. H., A genome-wide analysis of the ultimate pH in swine, vol. 14, pp. 15668-15682, 2015.

Meat pH is an important factor influencing meat quality traits in swine. This study evaluated a large number of genetic variants that covered all of the swine chromosomal regions. Approximately 68,000 single nucleotide polymorphisms (SNPs), found on Illumina Porcine SNP chips, were tested for associations with meat pH values. A genome-wide association study (GWAS) found that 19 SNPs on Sus scrofa chromosome 4 were significantly associated with pH.

Relationship between HLA-DP gene polymorphisms and the risk of hepatocellular carcinoma: a meta-analysis

X. Zhang, Zheng, C., Zhou, Z. H., Li, M., Gao, Y. T., Jin, S. G., Sun, X. H., and Gao, Y. Q., Relationship between HLA-DP gene polymorphisms and the risk of hepatocellular carcinoma: a meta-analysis, vol. 14, pp. 15553-15563, 2015.

The association between the HLA-DP single nucleotide polymorphisms (SNPs) rs3077 and rs9277535 and hepatocellular carcinoma (HCC) has been reported, but results have been inconclusive and controversial. Therefore, to investigate the relationship between these HLA-DP SNPs and HCC susceptibility, a meta-analysis of studies published before January 2014 was carried out using the PubMed and Google Scholar databases.

Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy

J. Yin, Yang, J., Ren, F. X., Sun, C. M., Li, L. D., Han, L. Y., Cai, S. L., Zhang, C. H., Zhang, Z. Q., Zhang, Z. T., and Wang, H., Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy, vol. 14, pp. 15427-15434, 2015.

Recently, studies on the pathogenesis of dilated cardiomyopathy (DCM) have focused on the underlying molecular biology and the association between single nucleotide polymorphisms (SNPs) and disease. This study was designed to explore the association between the rs4641 SNP of the LMNA gene and DCM in order to identify a new gene locus related to DCM. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were employed to detect and genotype rs4641 in 198 patients with DCM and 160 healthy controls.

Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese

T. Q. Zhou, Guan, H. J., and Hu, J. Y., Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese, vol. 14, pp. 17432-17438, 2015.

The aim of this study was to identify disease-associated loci in oldest old Han Chinese with atrophic age-related macular degeneration (AMD). This genome-wide association study (GWAS) only included oldest old (≥95 years old) subjects in Rugao County, China. Thirty atrophic AMD patients and 47 age-matched non-AMD controls were enrolled. The study subjects underwent a complete ophthalmic examination. Genomic DNA was extracted from peripheral blood samples. Single nucleotide polymorphisms (SNPs) were scanned by Genome-Wide Human Mapping SNP 6.0 Arrays and GeneChip Scanner 3000 7G.

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Z. Wang, Li, M., Li, L., Sun, H., and Lin, X. Y., Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis, vol. 14, pp. 17262-17272, 2015.

Mutations in the CYP1B1 gene were detected in primary open-angle glaucoma (POAG) patients. However, the association between these mutations and the incidence of POAG remains to be elucidated. Here, we have conducted a meta-analysis to analyze this correlation, using relevant studies obtained from an extensive search of various electronic databases, including EMBase, Web of Science, and PubMed. The extracted studies were selected for the meta-analysis based on the inclusion and exclusion criteria.

Identification of SNPs within the PRLR gene and effects on maternal behavior in sheep

L. P. Wang, Geng, R. Q., Zhang, X. N., and Sun, W., Identification of SNPs within the PRLR gene and effects on maternal behavior in sheep, vol. 14, pp. 17536-17543, 2015.

The prolactin receptor gene (PRLR) plays an essential role in maternal behavior. The aim of the study was to detect PRLR mutations in exon 10, using a polymerase chain reaction-single stranded conformation polymorphism method, and to determine the association between mutations in this region with maternal behavior traits in Chinese Hu sheep. Polymorphisms were detected only in the gene region amplified by the primer P3; three genotypes (AA, AB and BB) were observed.

Characterization of porcine GAS6 cDNA gene and its expression analysis in weaned piglets

D. Xu, Jiang, J., He, J., He, C. Q., and Ma, H. M., Characterization of porcine GAS6 cDNA gene and its expression analysis in weaned piglets, vol. 14, pp. 17660-17672, 2015.

The growth arrest-specific 6 gene (GAS6) is a member of the family of plasma vitamin K-dependent proteins, which are able to bind to phospholipids using an N-terminal gamma-carboxyglutamic acid domain. A recent report has demonstrated that the GAS6 gene can promote fat deposition and is associated with an increased number of fat cells in mice. In order to investigate whether GAS6 expression is associated with meat quality in pigs, a 2382-bp cDNA sequence of the porcine GAS6 gene (GenBank accession No.

Association between the rs3795879 G/A polymorphism of the SERPINE2 gene and chronic obstructive pulmonary disease: a meta-analysis

D. B. Tian, Cai, S. X., Pan, G. C., Zhang, Y. F., and Xiao, J. H., Association between the rs3795879 G/A polymorphism of the SERPINE2 gene and chronic obstructive pulmonary disease: a meta-analysis, vol. 14, pp. 7920-7928, 2015.

The present study aimed to investigate the effects of the rs3795879 polymorphism of the SERPINE2 gene on the development of chronic obstructive pulmonary disease (COPD) based on a systematic meta-analysis. An extensive literature search was performed to retrieve previously published case-control studies on the polymorphisms of SERPINE2 in COPD patients. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association between SERPINE2 polymorphisms and risk of developing COPD.

Association of the VRK2 gene rs3732136 polymorphism with schizophrenia in a Northwest Chinese Han population

B. Zhang, Gao, C. Y., Zhang, H. B., Yang, B., Yin, J. F., Wei, S. G., Zhu, Y. S., Jia, X. N., and Li, S. B., Association of the VRK2 gene rs3732136 polymorphism with schizophrenia in a Northwest Chinese Han population, vol. 14, pp. 9404-9411, 2015.

Previous studies have found that the vaccinia related kinase 2 gene (VRK2) polymorphism was associated with schizophrenia (SCZ) in the worldwide population. This association was further supported by VRK2 mRNA expression patterns and brain structure variations. Here, we analyzed four single nucleotide polymorphisms (SNPs) of the VRK2 gene in a total population of 893 samples, consisting of 360 patients with SCZ and 533 healthy controls of Han Chinese descent using the SNPscan method. Single SNP, haplotype, and gender-specific association analyses were performed.

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