Genetic polymorphisms

Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia

H. Y. Ren, Zhong, R., Ding, X. P., Chen, Z. Y., and Jing, Y. L., “Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia”, vol. 14, pp. 9261-9268, 2015.

\Previous studies have shown that genetic polymorphisms in exon7 of the NSUN7 gene can be used as an infertility marker in Iranian men with asthenospermia. However, there have been no equivalent studies in China. In the present study, we investigated the possible association between the genetic polymorphisms in exon7 of NSUN7 and asthenospermia in a Chinese Han population. We recruited 240 asthenospermic men as a patient group and 256 normospermic men as a control group, and analyzed the semen parameters on the basis of World Health Organization (WHO) guidelines.

Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer

H. Yang, Li, G., and Li, W. F., “Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer”, vol. 14, pp. 700-705, 2015.

We conducted a hospital-based case-control study to evaluate the association between polymorphisms in excision repair cross-complementing group 1-xeroderma pigmentosum group F (ERCC1-XPF) variants and the risk of colorectal cancer in a Chinese population. Genotyping of the ERCC1 rs2298881 and rs11615 and XPF rs2276466 polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Colorectal cancer cases were more likely to be smokers, consume alcohol, have higher energy intake, and have a family history of cancer.

Diversity of platelet function and genetic polymorphism in clopidogrel-treated Chinese patients

B. Sun, Li, J., Dong, M., Yang, L., Wu, C., Zhu, L., and Cong, Y. L., “Diversity of platelet function and genetic polymorphism in clopidogrel-treated Chinese patients”, vol. 14, pp. 1434-1442, 2015.

We investigated the correlation between genetic polymorphisms of cytochrome P450 enzyme genes and the outcome of clopidogrel treatment in 118 coronary disease patients after percutaneous coronary intervention at the Chinese PLA General Hospital. Patients were divided into an ischemia event relapse group (IERG) and a non-IERG group (NIERG) based on relapse of ischemia events within 6 months after percutaneous coronary intervention. Ischemia occurred in 26.27% of patients.

Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?

M. Aksoy, Uygun, H., Baspinar, O., Demiryurek, S., Oztuzcu, S., Cengiz, B., Irdem, A., and Araz, N. C., “Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?”, vol. 13, pp. 1949-1954, 2014.

Rho/Rho-kinase pathway plays a critical role in the regulation of cellular functions such as proliferation and migration. One of the possible theories of the development of ventricular septal defects is cell migration disorder. The aim of this study was to analyze the genotype distributions and allele frequencies for the ROCK2 gene Thr431Asn polymorphisms in the development of cardiac septal defects in a Turkish population.

Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine

M. Zhou, Ding, Y. J., Feng, Y., Zhang, Q. R., Xiang, Y., and Wan, H. Y., “Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine”, vol. 13, pp. 3310-3318, 2014.

Xeroderma pigmentosum group D (XPD) plays a key role in the repair of DNA and platinum resistance lesions. Cytidine deaminase (CDA) genes determine the velocity of gemcitabine catalysis. This study aimed to investigate the relationship between XPD and CDA genotypes and outcome in non-small lung cancer (NSCLC) patients. We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polymorphisms of XPD (Asp312Asn and Lys751Gln) and CDA (Lys27Gln and Ala70Thr) in 93 NSCLC patients treated with a cisplatin-gemcitabine regimen.

Association of genetic polymorphisms of SAA1 (rs12218) with myocardial infarction in a Chinese population

B. Y. Wang, Hang, J. Y., Zhong, Y., and Tan, S. J., “Association of genetic polymorphisms of SAA1 (rs12218) with myocardial infarction in a Chinese population”, vol. 13, pp. 3693-3696, 2014.

Previous studies suggested that genetic polymorphisms of serum amyloid A (SAA) were associated with carotid atherosclerosis. However, the relationship between genetic polymorphisms of SAA and myocardial infarction (MI) remains unclear. In the present study, we analyzed a polymorphism (rs12218) in the SAA1 gene in 840 MI patients and 840 healthy subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis

Y. Z. Xiang, Jiang, S. B., Zhao, J., Xiong, H., Cui, Z. L., Li, G. B., and Jin, X. B., “Racial disparities in the association between diabetes mellitus-associated polymorphic locus rs4430796 of the HNF1βgene and prostate cancer: a systematic review and meta-analysis”, vol. 13, pp. 6582-6592, 2014.

Polymorphism 17q12 rs4430796 within HNF1βis a genetic variant associated with both diabetes mellitus and prostate cancer, but findings on the correlations of rs4430796 with prostate cancer risk specifically are not in agreement, especially among diverse populations. To shed some light on the contradictory findings, therefore, we carried out a meta-analysis by pooling the odds ratios (ORs) with corresponding 95% confidence intervals (CIs) of all currently available case-control studies located within PubMed and Embase databases up to December 2012.

Association between the c.1564A>T genetic polymorphism of the MDR1 gene and hepatocellular carcinoma in Chinese population

Y. Y. Wan, Wang, X. W., Hui, H. X., and Wan, L., “Association between the c.1564A>T genetic polymorphism of the MDR1 gene and hepatocellular carcinoma in Chinese population”, vol. 13, pp. 6820-6826, 2014.

The objective of this study was to evaluate the influence of c.1564A>T genetic polymorphisms in the multidrug resistance 1 gene (MDR1) on hepatocellular carcinoma (HCC) susceptibility through association analysis. A total of 632 HCC patients and 645 cancer-free controls were enrolled in this study. The c.1564A>T genetic polymorphisms were genotyped by created restriction site-polymerase chain reaction (CRS-PCR) and confirmed using DNA sequencing methods.

Association of the rs7903146 and rs12255372 polymorphisms in the TCF7L2 gene with type 2 diabetes in a population from northeastern Brazil

C. M. A. R. Barros, Araújo-Neto, A. P., Lopes, T. R., Barros, M. A. L., Motta, F. J. N., Canalle, R., Nunes, L. C. C., Rey, J. A., Burbano, R. R., Lima-Barros, M. A., Yoshioka, F. K. N., and Pinto, G. R., “Association of the rs7903146 and rs12255372 polymorphisms in the TCF7L2 gene with type 2 diabetes in a population from northeastern Brazil”, vol. 13, pp. 7889-7898, 2014.

Approximately 200 million people suffer from type 2 diabetes (T2D) worldwide, and the rapid increase in the prevalence of this disease is likely a result of multiple environmental factors, such as increased food intake and decreased physical activity in genetically predisposed individuals. Different population studies have demonstrated a strong association of two polymorphic variations in the TCF7L2 gene, the noncoding single nucleotide polymorphisms (SNPs) rs7903146 (C/T) and rs12255372 (G/T), with T2D.

Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population

G. S. Lordelo, Miranda-Vilela, A. L., Akimoto, A. K., Alves, P. C. Z., Hiragi, C. O., Nonino, A., Daldegan, M. B., Klautau-Guimarães, M. N., and Grisolia, C. K., “Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population”, vol. 11, pp. 1013-1026, 2012.

Chronic myeloid leukemia is a hematopoietic stem cell disorder that causes uncontrolled proliferation of white blood cells. Although the clinical and biological aspects are well documented, little is known about individual susceptibility to this disease. We conducted a case-control study analyzing the prevalence of the polymorphisms MTHFR C677T, MTHFR A1298C, del{GSTM1}, del{GSTT1}, and haptoglobin in 105 patients with chronic myeloid leukemia (CML) and 273 healthy controls, using PCR-based methods.

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