Gene polymorphism

Genetic polymorphisms of paraoxonase1 192 and glutathione peroxidase1 197 enzymes in familial Mediterranean fever

F. Öktem, Anıl, H., Sütcü, R., and Kuybulu, A. E., “Genetic polymorphisms of paraoxonase1 192 and glutathione peroxidase1 197 enzymes in familial Mediterranean fever”, vol. 13, pp. 3292-3300, 2014.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder and is the most frequent of the periodic febrile inflammatory syndromes. The pathogenesis of the disease is not completely understood, even though the FMF gene has been identified. Oxidative stress and inflammation may play a role in the pathogenesis of FMF. We investigated gene polymorphisms of the antioxidative enzymes, glutathione peroxidase (GPX) and paraoxonase (PON) in FMF patients, and possible associations with FMF pathogenesis.

Polymorphisms in the XRCC1 gene are associated with treatment response to platinum chemotherapy in advanced non-small cell lung cancer patients based on meta-analysis

L. Li, Wan, C., and Wen, F. Q., “Polymorphisms in the XRCC1 gene are associated with treatment response to platinum chemotherapy in advanced non-small cell lung cancer patients based on meta-analysis”, vol. 13, pp. 3772-3786, 2014.

X-ray repair cross complementing group 1(XRCC1) polymorphisms have been implicated in interindividual variability of efficacy of platinum chemotherapy for treating non-small cell lung cancer (NSCLC); however, results of different studies have been inconsistent. We conducted a meta-analysis to investigate the association between polymorphisms in the XRCC1 gene and response rate of platinum chemotherapy in advanced NSCLC patients.

Tumor necrosis factor receptor-II nt587 polymorphism in Chinese Han patients with ankylosing spondylitis

X. Li, Wang, M., Ma, R., Zhang, T., Liu, J., Chen, J. W., and Peng, W., “Tumor necrosis factor receptor-II nt587 polymorphism in Chinese Han patients with ankylosing spondylitis”, vol. 13, pp. 5190-5198, 2014.

We aimed to explore the association between the onset of ankylosing spondylitis (AS) and nt587 polymorphisms of the tumor necrosis factor receptor II (TNFRII) gene in the Han population of Hunan Province, China. Correlation analysis was performed in a case-control study involving 100 AS cases and 100 healthy controls. The nt587 single nucleotide polymorphism of the TNFRII gene was examined by polymerase chain reaction-restriction fragment length polymorphism.

CYP1A2 polymorphism in Chinese patients with acute liver injury induced by Polygonum multiflorum

K. F. Ma, Zhang, X. G., and Jia, H. Y., “CYP1A2 polymorphism in Chinese patients with acute liver injury induced by Polygonum multiflorum”, vol. 13, pp. 5637-5643, 2014.

The objective of this study was to evaluate the genotype and allelic frequencies of CYP1A2 in Chinese patients with acute liver injury induced by Polygonum multiflorum. We examined the clinical mechanism of acute liver injury induced by P. multiflorum. According to the diagnostic criteria for drug-induced liver injury (DILI), 43 cases of P. multiflorum-induced liver injury admitted to the First Affiliated Hospital, Zhejiang University were identified between January 2008 and December 2012.

Association of a transforming growth factor-β1 polymorphism with acute coronary syndrome in a Chinese Han population

Y. N. Yang, Zhao, B., Li, X. M., Xie, X., Liu, F., and Chen, B. D., “Association of a transforming growth factor-β1 polymorphism with acute coronary syndrome in a Chinese Han population”, vol. 13, pp. 6160-6167, 2014.

Acute coronary syndrome (ACS) is a complex multifactorial and polygenic disorder that is thought to result from the interaction between an individual’s genetic makeup and various environmental factors. The aim of this study was to investigate the association of a transforming growth factor-β1 (TGF-β1) polymorphism (-509C>T) with ACS in a Chinese Han population. The TGF-β1 polymorphism was evaluated in 336 patients with ACS and 396 healthy control subjects by polymerase chain reaction-restriction fragment length polymorphism.

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

S. - S. Li, Li, J., Xiao, Z., Ren, A. - G., and Jin, L., “Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility”, vol. 13, pp. 6367-6374, 2014.

The aim of this study was to explore the relationship between 2 genetic polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR), C677T and A1298C, and determine the long-term reproductive outcome in infertile men. This was a prospective study conducted in an andrology clinic. Men with a 1-year history of infertility were assessed for the MTHFR polymorphisms at a 5-year follow-up.

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

C. M. Camargo-Kosugi, D’Amora, P., Kleine, J. P. F. O., Carvalho, C. V., Sato, H., Schor, E., and Silva, I. D. C. G., “TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population”, vol. 13, pp. 6503-6511, 2014.

We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method.

MTHFR C677T polymorphism and osteoporotic fracture in postmenopausal women: a meta-analysis

J. Z. Guan, Wu, M., Xiao, Y. Z., Zhou, J. S., and Wang, Z. D., “MTHFR C677T polymorphism and osteoporotic fracture in postmenopausal women: a meta-analysis”, vol. 13, pp. 7356-7364, 2014.

Numerous studies have evaluated the association between MTHFR C677T polymorphism and osteoporotic fracture risk in postmenopausal women. However, the results have been inconsistent. We performed a meta-analysis of the association between MTHFR C677T polymorphism and osteoporotic fracture risk in postmenopausal women. Only seven case-control studies were retrieved, with a total of 4258 patients and 3454 healthy controls.

Association of vitamin D receptor BsmI gene polymorphism with risk of low bone mineral density in post-menopausal women: a meta-analysis

C. Ma, Zhou, Q. L., Deng, Y. J., Liang, X., Wu, D. P., and Dong, Y. Z., “Association of vitamin D receptor BsmI gene polymorphism with risk of low bone mineral density in post-menopausal women: a meta-analysis”, vol. 13, pp. 7791-7799, 2014.

The vitamin D receptor BsmI gene polymorphism is reportedly associated with low bone mineral density (BMD) in postmenopausal women, but results from previous studies are conflicting. In the present study, we investigated the association between this polymorphism and the risk of low BMD through a meta-analysis of published studies. A literature search of the Pubmed, Embase, and CNKI databases from inception through July 2013 was conducted. The meta-analysis was performed using the STATA 12.0 software.

Interaction of six candidate genes in essential hypertension

D. C. Hu, Zhao, X. L., Shao, J. C., Wang, W., Qian, J., Chen, A. H., Zhang, H. Q., Guo, H., Jiang, J., and Li, H. Y., “Interaction of six candidate genes in essential hypertension”, vol. 13, pp. 8385-8395, 2014.

We explored the interaction of 6 candidate genetic mutations in essential hypertension (EH). The mutations AGT M235T, ACE I/D, eNOS Glu298Asp, ET-2 A985G, ANP T2238C, and NPRC A-55C were detected using a genechip microarray in 100 patients with EH and 97 controls from the Han population living in the Yunnan Province of China. Risks of EH were evaluated with respect to a combination of these genotypes. Interactions were analyzed using multifactor dimensionality reduction (MDR). P values were corrected using Bonferroni’s adjustment.

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