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Genetic Polymorphism

Human Genetics   Research Article

Insulin-like growth factor binding protein-3 (IGFBP-3) genetic variant and the risk of esophageal squamous cell carcinoma in a Chinese population

Authors: H.-P. Yang, J.-F. Liu, J. Rao, X.-M. Zhang, H.-L. Qian, X.-Q. Niu and Z.-L. Zhao

Insulin-like growth factor binding protein-3 (IGFBP-3) exerts anti-proliferative or pro-apoptotic effects through IGF-dependent as well as IGF-independent mechanisms in vitro. The purpose of this study was to examine the association between genetic variants in IGFBP-3 (rs2270628) and the risk of esophageal squamous cell carcin.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.May.30.10
DOI:
http://dx.doi.org/10.4238/2014.May.30.10
Human Genetics   Research Article

Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

Authors: L.S. Torres, E. Belini Junior, D.G. Silva, C.L. Lobo, M.A. Ruiz and C.R. Bonini-Domingos

Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphisms -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growt.. Read More»

Genet. Mol. Res. 12(4):
2013.December.16.1
DOI:
10.4238/2013.December.16.1
Human Genetics   Research Article

Association of the g.27563G>A osteoprotegerin genetic polymorphism with bone mineral density in Chinese women

Authors: Y.P. Liu, D.W. Zhao, W.M. Wang, B.J. Wang, Y. Zhang and Z.G. Li

Osteoporosis is a common multifactorial disease in postmenopausal women. This study aimed to investigate the association of the g.27563G>A osteoprotegerin (OPG) genetic polymorphism with bone mineral density (BMD) and osteoporosis. A case-control study was carried out with 435 osteoporosis postmenopausal women cases and 442.. Read More»

Genet. Mol. Res. 13(2):
2014.February.14.9
DOI:
10.4238/2014.February.14.9
Human Genetics   Research Article

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

Authors: G.S. Lordelo, A.L. Miranda-Vilela, A.K. Akimoto, P.C.Z. Alves, C.O. Hiragi, A. Nonino, M.B. Daldegan, M.N. Klautau-Guimar�£es and C.K. Grisolia

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 polymor.. Read More»

Genet. Mol. Res. 11(2):
2012.April.19.6
DOI:
10.4238/2012.April.19.6
Human Genetics   Research Article

NLRP3 rs35829419 polymorphism is associated with increased susceptibility to multiple diseases in humans

Authors: Q. Zhang, H.W. Fan, J.Z. Zhang, Y.M. Wang and H.J. Xing

Using a meta-analysis framework, we investigated the association between the NLRP3 rs35829419 polymorphism and increased susceptibility to diverse diseases in humans. Relevant published studies were identified through a comprehensive and systematic electronic search, using the following scientific literature databases: Science Citation Index, the Cochrane.. Read More»

Genet. Mol. Res. 14(4):
2015.October.29.17
DOI:
10.4238/2015.October.29.17
Human Genetics   Research Article

Quantitative assessment of the association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and digestive system cancer risk

Authors: J. Wang*, S. Yang*, F.H. Guo, X. Mao, H. Zhou, Y.Q. Dong, Z.M. Wang andF. Luo

The angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been reported to be associated with digestive system cancer; however, the results from previous studies have been conflicting. The present study aimed to investigate the association between the ACE I/D polymorphism and the risk of digestive system cancer using a meta-an.. Read More»

Genet. Mol. Res. 14(4):
2015.November.13.13
DOI:
10.4238/2015.November.13.13
Human Genetics   Research Article

Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population

Authors: J.Y. Li, F. Tao, X.X. Wu, Y.Z. Tan, L. He and H. Lu

Impaired antioxidant defense increases the oxidative stress and contributes to the development of type 2 diabetes mellitus (T2DM). MnSOD and eNOS are important antioxidant enzymes. This aim of this study was to verify the association of MnSOD and eNOS tagSNPs with T2DM in a Chinese Han population. Four tagSNPs of MnSOD and eight tagSNPs of eNOS were detec.. Read More»

Genet. Mol. Res. 14(4):
2015.October.21.20
DOI:
10.4238/2015.October.21.20
Human Genetics   Research Article

Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine �²-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes

Authors: F.M. Amaral, A.L. Miranda-Vilela, G.S. Lordelo, I.F. Ribeiro, M.B. Daldegan and C.K. Grisolia

High plasma homocysteine (Hcy) âÂ?Â?âÂ?Â?levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) poly.. Read More»

Genet. Mol. Res. 16(1):
gmr16019374
DOI:
10.4238/gmr16019374
Human Genetics   Research Article

Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a case control study of Malaysian patients

Authors: K.A. Muthusamy L.H. Lian N. Vairavan K.H. Chua V. Wara

Studies of genetic mutations that have been used in predicting glioma prognosis have revealed a complex relationship between clinical and genetic factors. Epidermal growth factor (EGF) and the NAT2 gene play a central role in carcinogenesis. An adenine (A) to guanine (G) single nucleotide polymorphism at position 61 in the 5'-untranslated region (5'-UTR) of .. Read More»

Genet. Mol. Res. 11(3):
2012.June.15.7
DOI:
10.4238/2012.June.15.7
Animal Genetics   Research Article

Bovine dopamine receptors DRD1, DRD4, and DRD5: genetic polymorphisms and diversities among ten cattle breeds

Authors: A.M. Sifuentes-Rinc�³n1, A.G. Trejo-Tapia1, R.D. Randel2, P. Ambriz-Morales1 and G.M. Parra-Bracamonte1

The aim of this study was to analyze the allelic frequency distribution and segregation among breeds and/or between different cattle genetic groups of four novel single nucleotide polymorphisms of the bovine DRD1 and DRD5 genes and one reported SNP from the DRD4 gene. One hundred and nine-animals from ten different cattle breeds were genotyped and allelic.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017725
DOI:
10.4238/gmr.15017725