Single nucleotide polymorphism

No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area

J. L. Li, Li, Y. J., Zhang, K. J., Lan, L., Shi, J. G., Yang, X., Zhang, M. J., Zhang, F. C., and Gao, X. C., “No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area”, vol. 13, pp. 127-133, 2014.

FGD1 encoding a guanine nucleotide exchange factor, specifically activates Rho GTPase cell division cycle 42 (Cdc42). Dysfunction of FGD1 causes Aarskog-Scott syndrome (MIM #305400), an X-linked disorder that may affect bone and intellectual development. However, the relationship between FGD1 and intellectual developmental disorders (IDD) remains unclear. The purpose of this study was to investigate the genetic association between the FGD1 polymorphism and IDD.

Effect of CYP2C9*3 mutant variants on meloxicam pharmacokinetics in a healthy Chinese population

M. Zhang, Yang, Y., Zhao, G., Di, X., Xu, L., Jiang, N., Xu, J., and Xu, X., “Effect of CYP2C9*3 mutant variants on meloxicam pharmacokinetics in a healthy Chinese population”, vol. 13, pp. 831-837, 2014.

The aim of this study was to investigate the effect of the CYP2C9*3 (CYP2C9 1075 A>C) polymorphism on meloxicam pharmacokinetics in a Chinese population. Twenty-four healthy volunteers were enrolled in this study. The pyrosequencing technique was used to identify polymorphisms of CYP2C9. The concentration of meloxicam in plasma was determined by a high-performance liquid chromatography assay with mass spectrographic analysis. The Drug and Statistics Software (DAS, version 2.0) was used for curve fitting and calculations of pharmacokinetic parameters.

Polymorphisms of +2836 G>A in the apoE gene are strongly associated with the susceptibility to essential hypertension in the Chinese Hui population

Y. Yang, Xu, J. R., Liu, X. M., Zhou, J., Yang, B., Li, M., and Wang, Y. J., “Polymorphisms of +2836 G>A in the apoE gene are strongly associated with the susceptibility to essential hypertension in the Chinese Hui population”, vol. 13, pp. 1212-1219, 2014.

In the present study, the correlation of polymorphisms of the apolipoprotein E (apoE) gene with the susceptibility of essential hypertension (EH) was investigated. Single nucleotide polymorphisms of the apoE gene at the -491 A>T, +969 C>G, and +2836 G>A sites were determined in 221 non-EH individuals and 109 subjects with EH of Chinese Hui ethnicity using polymerase chain reaction-restriction fragment length polymorphism analysis.

Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members

K. H. Kim, Kuh, S. U., Park, J. Y., Lee, S. J., Park, H. S., Chin, D. K., Kim, K. S., and Cho, Y. E., “Association between BMP-2 and COL6A1 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the cervical spine in Korean patients and family members”, vol. 13, pp. 2240-2247, 2014.

COL6A1 and BMP-2 genes have been implicated in ossification of the posterior longitudinal ligament (OPLL) susceptibility in Japanese and Chinese Han populations. However, no study has yet investigated the DNA of unaffected family members of patients with OPLL. This study investigated differences in genetic polymorphisms of BMP-2 and COL6A1 between Korean patients with OPLL and their family members (with and without OPLL). A total of 321 subjects (110 patients with OPLL and 211 family members) were enrolled in the study.

Rabbit MSTN gene polymorphisms and genetic effect analysis

X. B. Qiao, Xu, K. Y., Li, B., Luan, X., Xia, T., and Fan, X. Z., “Rabbit MSTN gene polymorphisms and genetic effect analysis”, vol. 13, pp. 2590-2597, 2014.

We analyzed meat samples of nine pure lines of rabbit and its 37 hybrid combinations by sequencing and single-strand conformation polymorphism techniques to explore genetic polymorphisms of all the three exon regions and part of the 5'-regulatory region of the myostatin (MSTN) gene. Thus, we detected a single nucleotide mutation (T→C) on the 476 locus of the 5'-regulatory region, but no mutation sites were detected in the exon areas.

Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population

C. - P. Zhou, Pan, H. - Z., Li, F. - X., Hu, N. - Y., Li, M., and Yang, X. - X., “Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population”, vol. 13, pp. 3673-3680, 2014.

Evidence suggests that some genetic variants are risk factors for both colorectal cancer (CRC) and gastric cancer (GC). Thus, we selected 12 reported single nucleotide polymorphisms (SNPs) from genome-wide association studies of CRC and conducted this case-control study to assess the associations between these SNPs and the risk for GC in a southern Chinese population. All SNPs were genotyped in 249 individuals with GC and 292 healthy population-matched subjects using the Sequenom MassArray iPLEX System.

Association of BRCA2 variants with cardiovascular disease in Saudi Arabia

M. Alanazi, Reddy, N. P., Shaik, J. P., Ajaj, S. A., Jafari, A. A. A., Saeed, H., Khan, Z., and Khan, A. P., “Association of BRCA2 variants with cardiovascular disease in Saudi Arabia”, vol. 13, pp. 3876-3884, 2014.

Abnormalities in the breast cancer tumor suppressor genes (BRCA1 and BRCA2) are associated with breast and ovarian cancer. Recently, two single nucleotide polymorphisms (SNPs; rs11571836 and rs1799943) were identified, both located in untranslated regions of chromosome 13, associated with cardiovascular disease (CVD) in a multi-ethnic population. We examined the association between these BRCA2 polymorphisms and traits of CVD patients from Saudi Arabia. We genotyped rs11571836 and rs1799943 in 159 unrelated CVD patients and 176 healthy controls.

Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related metabolic traits in Malaysian Malays

Y. D. Apalasamy, Moy, F. M., Rampal, S., Bulgiba, A., and Mohamed, Z., “Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related metabolic traits in Malaysian Malays”, vol. 13, pp. 4904-4910, 2014.

A genome-wide association study showed that the tagging single nucleotide polymorphism (SNP) rs7566605 in the insulin-induced gene 2 (INSIG2) was associated with obesity. Attempts to replicate this result in different populations have produced inconsistent findings. We aimed to study the association between the rs7566605 SNP with obesity and other metabolic parameters in Malaysian Malays. Anthropometric and obesity-related metabolic parameters and DNA samples were collected. We genotyped the rs7566605 polymorphism in 672 subjects using real-time polymerase chain reaction.

Functional polymorphisms in microRNAs and susceptibility to liver cancer: a meta-analysis and meta-regression

B. S. Wang, Liu, Z., Xu, W. X., and Sun, S. L., “Functional polymorphisms in microRNAs and susceptibility to liver cancer: a meta-analysis and meta-regression”, vol. 13, pp. 5426-5440, 2014.

MicroRNAs (miRNAs) are small non-coding RNA molecules that play a fundamental role in controlling a variety of biological functions. Emerging evidence has shown that common genetic polymorphisms in miRNAs may be associated with the development of liver cancer; however, several individually published studies showed inconclusive results. This meta-analysis aimed to derive a more precise estimation of the association between functional polymorphisms in miRNAs and susceptibility to liver cancer.

Interleukin-1B-31 gene polymorphism in Hakka gastric cancer patients in Guangdong, China

B. Qiu, Zou, H. - Y., Yang, Y. - H., and Lai, C. - F., “Interleukin-1B-31 gene polymorphism in Hakka gastric cancer patients in Guangdong, China”, vol. 13, pp. 5873-5879, 2014.

The aim of this study was to examine the interleukin-1B (IL-1B) gene promoter region -31 (IL-1B-31) polymorphism distribution characteristic of Hakka gastric cancer patients in Guangdong Province and to explore its association with gastric cancer. We used the 1:1 case-control method, matrix-assisted laser desorption ionization flight time mass spectrometry, and MassARRAY-IPLEX technology to genotype IL-1B-31 (-31C> T) in 52 Hakka gastric cancer patients and 52 Hakka control subjects in Meizhou.

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