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Human Genetics

Human Genetics   Research Article

Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients

Authors: F.J. Wei, C.Y. Cai, P. Yu, J. Lv, C. Ling, W.T. Shi, H.X. Jiao, B.C. Chang, F.H. Yang, Y. Tian, M.S. Li, Y.H. Wang, L. Zou, J.M. Shi, L.M. Chen and W.D. Li

Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.25
DOI:
10.4238/2015.November.30.25
Human Genetics   Research Article

729G/C polymorphism in Toll-like receptor 4 results in increased susceptibility to bladder cancer

Authors: B. Wan, J. Tan, Q. Zeng, L.Y. He, Y. Gan, Y.B. Dai and K. Yao

In this study, the association between the 729G/C polymorphism in Toll-like receptor 4 (TLR4) and the risk of bladder cancer was investigated. A total of 376 patients with bladder cancer and 380 healthy volunteers from the Third Xiangya Hospital of Central South University (China) were enrolled in this study between January 20.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.26
DOI:
10.4238/2015.November.30.26
Human Genetics   Research Article

RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer

Authors: S. Su�¡rez-Villanueva, M.L. Ayala-Madrigal, J. Peregrina-Sandoval, N. Mac�­as-G�³mez, R. Ram�­rez-Ram�­rez, R. Mu�±iz-Mendoza, J.M. Moreno-Ortiz, M. Centeno-Flores, V. Maciel-Guti�©rrez, E. Cabrales and M. Guti�©rrez-Angulo

We analyzed a possible association between RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer (CRC). Genomic DNA samples were obtained from the peripheral blood of 176 Mexican patients with CRC at diagnosis and from 195 individuals that formed the control group. The polymorphisms were detected b.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.28
DOI:
10.4238/2015.November.30.28
Human Genetics   Research Article

Association of the GSTM1 null polymorphism with breast cancer in a Mexican population

Authors: O. Soto-Quintana, G.M. Z�º�±iga-Gonz�¡lez, R. Ram�­rez-Pati�±o, A. Ramos-Silva, L.E. Figuera, D.I. Carrillo-Moreno, I.A. Guti�©rrez-Hurtado, A.M. Puebla-P�©rez, B. S�¡nchez-Llamas and M.P. Gallegos-Arreola

The glutathione S transferase (GST) family plays an important role in the processing of carcinogens. Data on the null GSTM1 genotype has revealed associations with cancer, and has been suggested to affect carcinogen metabolism and to contribute to tumor promotion inthe mammary gland. We examined the role of the null GSTM1 genotype by comparing the genotyp.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.2
DOI:
10.4238/2015.October.26.2
Human Genetics   Research Article

Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China

Authors: S.Y. Yang, D. Aisimutula, H.F. Li, Y. Hu, X. Du, J. Li and M.X. Luan

Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clin.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.11
DOI:
10.4238/2015.October.26.11
Human Genetics   Research Article

Genetic mechanism associated with congenital cytomegalovirus infection and analysis of effects of the infection on pregnancy outcome

Authors: J.M. Li, H.F. Zhang, X.Q. Zhang, G.L. Huang, H.Z. Huang and W.W. Yu

We aimed to compare the diagnostic value of various detection methods for cytomegalovirus (CMV) infection, to investigate the genetic mechanism associated with CMV infection in pregnant women, and to analyze the risk of sequelae development in fetuses with CMV infection. A total of 300 participants who had the same immunosuppressive regimen and received p.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.21
DOI:
10.4238/2015.October.26.21
Human Genetics   Research Article

Protective effect of lyophilized recombinant human brain natriuretic peptide on renal ischemia/reperfusion injury in mice

Authors: X. Cao, H.Y. Xia, T. Zhang, L.C. Qi, B.Y. Zhang, R. Cui, X. Chen, Y.R. Zhao and X.Q. Li

Brain natriuretic peptide (BNP) has a protective effect on acute injury of the heart, brain, and lung. However, its role in acute kidney injury (AKI) remains unclear. The aim of this study was to investigate the effect of lyophilized recombinant human BNP (lrh-BNP) on AKI and the underlying molecular mechanisms. An experimental model for AKI was establish.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.26
DOI:
10.4238/2015.October.26.26
Human Genetics   Research Article

Study of the expression of GABAA receptor in rats during acute lung injury caused by endotoxin

Authors: L.Y. Zhan, L. Du, Z.Y. Xia, W.L. Li and B. Zhao

The objective of the present study was to investigate the role of γ-aminobutyric acid type A receptor (GABAAR) in lipopolysaccharide (LPS)-induced acute lung injury (ALI) in rats. Thirty-two male wistar rats were randomly divided into four groups. Rats in the GABA group were pretreated with LPS and GABA, while those in the bicuculline (BIC) group we.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.27
DOI:
10.4238/2015.October.26.27
Human Genetics   Research Article

Role of IL-17 gene polymorphisms in the susceptibility to gastric cancer

Authors: W.T. Qi, J.L. Gao and S.S. Zhang

We conducted a study to investigate the role of three IL-17 gene single nucleotide polymorphisms (SNP) (rs2275913G>A, rs3748067C>T, and rs763780 T>C) in the development of gastric cancer. A total of 252 patients with gastric cancer and 252 control subjects were collected between May 2012 and May 2014. The SNP genotyping of IL-17A rs2275913G>A .. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.33
DOI:
10.4238/2015.October.26.33
Human Genetics   Research Article

MTHFR C677T and A1298C polymorphisms as predictors of radiotherapy response in head and neck squamous cell

Authors: Q.S. Anders, E. Stur, L.P. Agostini, F.M. Garcia, R.S. Reis, J.A. Santos, S.O. Mendes, L.L. Maia, G.T. Peterle, V. Stange, M.B. Carvalho, E.H. Tajara, M. Santos, A.M.A. Silva-Conforti and I.D. Louro

The C677T and A1298C polymorphisms in methylenetetrahydrofolate reductase (MTHFR), which regulates the release of active folate in the body, may have reduced activity. Given that folate participates in important intracellular pathways, such as nucleotide synthesis and biomolecule methylation, it seems plausible that patients with head and neck squamous ce.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.6
DOI:
10.4238/2015.October.26.6