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Polymorphism

Human Genetics   Research Article

GSTT1, GSTM1, and GSTP1 polymorphisms and chemotherapy response in locally advanced breast cancer

Authors: A.L. Oliveira, F.F.O. Rodrigues, R.E. Santos, T. Aoki, M.N. Rocha, C.A. Longui and M.B. Melo

The glutathione S-transferase (GST) family consists of phase II detoxification enzymes that catalyze the conjugation of toxic substances, such as chemotherapeutic agents, to glutathione. We examined whether GSTT1/GSTT1“null”, GSTM1/GSTM1“null” and GSTP1Ile105Ile/GSTP1Ile105Val polymorphisms are associat.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr726
DOI:
10.4238/vol9-2gmr726
Animal Genetics   Research Article

Divergence and polymorphism analysis of IGF1Ra and IGF1Rb from orange-spotted grouper, Epinephelus coioides (Hamilton)

Authors: L. Guo, S. Yang, M.M. Li, Z.N. Meng and H.R. Lin

Orange-spotted grouper (Epinephelus coioides) is one of the most important marine fish and has a high market value. The insulin-like growth factor type 1 receptor (IGF1R) is a component of the insulin-like growth factor signaling system, and demonstrates important roles during growth. Based on information from livestock, we us.. Read More»

Genet. Mol. Res. 15(4):
gmr15048768
DOI:
10.4238/gmr15048768
Human Genetics   Research Article

Association between XRCC3 Thr241Met polymorphism and risk of osteosarcoma in a Chinese population

Authors: J. Guo, H.C. Lv, R.H. Shi and W.L. Liu

Osteosarcoma is one of the most common bone malignancies in adolescents, and hereditary factors may influence its susceptibility. We assessed the association between XRCC3 Thr241Met polymorphism and susceptibility to osteosarcoma in a Chinese population. Between May 2012 and May 2014, a total of 136 osteosarcoma patients and 136 healthy control subjects w.. Read More»

Genet. Mol. Res. 14(4):
2015
DOI:
10.4238/2015
Human Genetics   Research Article

Increased risk of breast cancer in individuals carrying the TNRC9 rs3803662 C>T polymorphism: a meta-analysis of case-control studies

Authors: Q. Wang, N.Y. Wang, X.M. Cao, X. Sun, D. Shen, M. Yuan and J.F. Chen

Currently, the relationship between the trinucleotide repeat containing 9 (TNRC9) rs3803662 C>T polymorphism and risk of breast cancer (BC) is uncertain. Here, we attempted to obtain a more accurate assessment of this association by conducting a meta-analysis of all eligible case-control investigations, comprising 44,820 cases and 58,316 controls. A co.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038218
DOI:
10.4238/gmr.15038218
Human Genetics   Research Article

Association between -44G/A and +71A/G polymorphisms in the connexin 40 gene and atrial fibrillation in Uyghur and Han populations in Xinjiang, China

Authors: J. Hailati, Y.C. Yang, L. Zhang, P.Y. He, M. Baikeyi, W. Muhuyati and Z.Q. Liu

We aimed to elucidate the association between connexin 40 (Cx40) genetic polymorphisms and atrial fibrillation (AF) in a Chinese population in Xinjiang comprising Uyghur and Han individuals. We enrolled 275 Uyghur and 305 age- and gender-matched Han subjects, and used polymerase chain reaction to detect single nucleotide polym.. Read More»

Genet. Mol. Res. 15(4):
gmr15048628
DOI:
10.4238/gmr15048628
Human Genetics   Research Article

Role of IL-8 rs4073 and rs2227306 polymorphisms in the development of primary gouty arthritis in a Chinese population

Authors: Y.X. Cui, H. Zhao and H.Q. Guo

In this study, we investigated the role of two single nucleotide polymorphisms in the promoter region of the interleukin-8 gene (IL-8; rs4073 and rs2227306) in the susceptibility to primary gouty arthritis in a Chinese population. Three hundred and twelve patients with primary gouty arthritis and 340 healthy controls were recr.. Read More»

Genet. Mol. Res. 15(4):
gmr15048511
DOI:
10.4238/gmr15048511
Human Genetics   Research Article

Association between interleukin-17A polymorphism and coronary artery disease susceptibility in the Chinese Han population

Authors: G.B. Su, X.L. Guo, X.C. Liu, Q.T. Cui and C.Y. Zhou

Coronary artery disease (CAD) is a major global health problem. In China, the incidence of CAD and the rate of mortality arising from it have increased every year. Interleukin-17A (IL-17A) is a proinflammatory cytokine produced by activated T cells, and it may be involved in the development of CAD. Genetic polymorphisms in functional regions of the IL17A .. Read More»

Genet. Mol. Res. 15(3):
gmr.15038235
DOI:
10.4238/gmr.15038235
Human Genetics   Research Article

Statistical analysis of the relationship between IL-10 gene promoter polymorphisms and the development of coronary artery disease

Authors: L. Wu, M.H. Zhao, G.Y. Geng, L. Mao and H.J. Liu

Here, we conducted a case-control study to investigate the association between IL-10 gene polymorphisms and development of CAD in a Chinese population. A total of 220 patients with CAD and 236 control subjects who visited the Zhengzhou People’s Hospital between May 2012 and June 2014 were selected for this study. The IL-.. Read More»

Genet. Mol. Res. 15(4):
gmr15047823
DOI:
10.4238/gmr15047823
Human Genetics   Research Article

Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer

Authors: Alessandra D. Clarizia, Luciana Bastos-Rodrigues, Helo�­sa B. Pena, Charles Anacleto, Benedito Rossi, Fernando A. Soares, Ademar Lopes, Jos�© Cl�¡udio C. Rocha, Ot�¡via Caballero, Anamaria Camargo, Andrew J.G. Simpson and S�©rgio D.J. Pena

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with the expression of a thermolabile enzyme with decreased activity that influences the pool of methyl-donor molecules. Several studies have reported an association between C677T polymorphism and susceptibility to colorectal cancer (CRC). Conside.. Read More»

Genet. Mol. Res. 5(2):
Human Genetics   Research Article

A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study

Authors: Rinaldo Wellerson Pereira, Simone Silva dos Santos and S�©rgio Danilo Junho Pena

We describe a novel polymorphic Alu insertion (DXS225) on the human X chromosome (Xq21.3) embedded into an L1 retrotransposon. The DXS225 polymorphism was genotyped in 684 males from the CEPH Human Genome Diversity Panel. This insertion was found in all regions of the globe, suggesting that it took place before modern humans s.. Read More»

Genet. Mol. Res. 5(1):