All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Genetic Polymorphism

Medical Genetics   Research Article

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

Authors: Y.Y. Wan, X.W. Wang, H.X. Hui and L. Wan

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 .. Read More»

Genet. Mol. Res. 13(3):
2014.August.29.3
DOI:
10.4238/2014.August.29.3
Human Genetics   Research Article

Genetic polymorphism at the KIR gene locus: determination of gene, genotype, and haplotype frequencies in the Xinjiang Han population

Authors: G.-Y. Lin, B. Yu, W.-J. Hu, Y.-Z. Zhang, X.-J. Zuo and Y.-B. Wang

The aim of this study was to explore the genetic polymorphism, genotype, and haplotype characteristics of the KIR locus in the Xinjiang Han population in order to establish a foundation for future analysis of the relationship between KIR genes and disease. KIR genes were detected by sequence-specific primer-polymerase chain reaction in 184 randomly select.. Read More»

Genet. Mol. Res. 14(2):
2015.June.9.7
DOI:
10.4238/2015.June.9.7
Human Genetics   Research Article

Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis

Authors: T.F. Rech, S.B.C. Moraes, M. Bredemeier, J. de Paoli, J.C.T. Brenol, R.M. Xavier, J.A.B. Chies and D. Simon

The major pathological hallmark of the systemic sclerosis (SSc) is skin and internal organ fibrosis, which results from normal tissue architecture alterations and extracellular matrix (ECM) protein deposition. ECM components are degraded by matrix metalloproteinases (MMP). Promoter region polymorphisms in MMP genes may influen.. Read More»

Genet. Mol. Res. 15(4):
gmr15049077
DOI:
10.4238/gmr15049077
Human Genetics   Case Reports

Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study

Authors: N.L.L. Casa, A.J. Casa Junior, A.V. Melo, L.S. Teodoro,G.R. Nascimento, A.F. Sousa, T.C. Flausino, D. Brito, R. Bergamini, L.B. Minasi, A.D. da Cruz, T.C. Vieira and M.P. Curado

We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 8.. Read More»

Genet. Mol. Res. 15(4):
gmr15048867
DOI:
10.4238/gmr15048867
Human Genetics   Short communication

The functional polymorphisms -429T>C and -374T>A of the RAGE gene promoter are not associated with gestational diabetes in Euro-Brazilians

Authors: I.C.R. Santos, D.R. Daga, H.R. Frigeri, R.R. R�©a, A.C.R. Almeida, E.M. Souza, F.O. Pedrosa, C.M.T. Fadel-Picheth and G. Picheth

The receptor for advanced glycation end products (RAGE or AGER) is a multiligand member of the immunoglobulin superfamily. RAGE is expressed in several tissues, including human myometrium, chorionic villi and placenta. Advanced glycation end products are the best studied ligands of RAGE; they have pro-inflammatory actions in h.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr817
DOI:
10.4238/vol9-2gmr817
Human Genetics   Research Article

Lack of association of immune-response-gene polymorphisms with susceptibility to sarcoidosis in Slovenian patients

Authors: A. Maver, I. Medica, B. Salobir, M. Tercelj and B. Peterlin

Sarcoidosis is a chronic inflammatory disease, characterized by granulomatous inflammation, prominently involving the respiratory system. The etiology of this disease has not yet been elucidated and the contribution of genetic is not yet completely understood. We searched for novel candidate genes, utilizing a system biology a.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr682
DOI:
10.4238/vol9-1gmr682
Human Genetics   Research Article

Lack of association between glutathione S-transferase polymorphisms and primary glioma in a case-control study in Rio de Janeiro

Authors: P. Coutinho, V. Sandim, J.A. Oliveira, G. Alves and A. Hatagima

The glutathione S-transferases (GSTs), a family of phase II isozymes, detoxify several carcinogens. Genetic variations in GSTs have been associated with increased risk for cancer due to a heritable deficiency in detoxification pathways for environmental carcinogens. Conflicting findings have been reported about the association.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr753
DOI:
10.4238/vol9-1gmr753
Human Genetics   Research Article

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

Authors: H. Ferreira-Fernandes, P.N. Costa, H.F. Fernandes, A.P. Ara�ºjo-Neto, F.J. Motta, R. Canalle, F.K. Yoshioka, J.F. Guerreiro, R.R. Burbano, J.A. Rey and G.R. Pinto

Venous thromboembolism (VTE) is an important cause of morbidity and mortality stemming from cardiovascular disease. It is a multifactorial disease caused by a combination of acquired risk factors, of which advanced age is the most significant, and genetic factors, including the variants FV G1691A, FII G20210A, and MTHFR C677T. We estimated the prevalence .. Read More»

Genet. Mol. Res. 12(3):
2013.Mach.11.5
DOI:
10.4238/2013.Mach.11.5
Medical Genetics   Research Article

Genetic polymorphisms of the TLR4 gene and their association with susceptibility to type 2 diabetes mellitus in the Chinese population

Authors: X.D. Fu, X.Q. Sun, H.Y. Wang, J.F. Guo, G.Z. Zhang and Q.H. Xu

Toll-like receptor 4 (TLR4) is potentially an important gene affecting the susceptibility to type 2 diabetes mellitus (T2DM). The objective of this study was to evaluate whether genetic polymorphisms of the TLR4 gene are associated with T2DM susceptibility. This potential association was analyzed in 668 T2DM patients and 672 healthy controls by polymerase.. Read More»

Genet. Mol. Res. 12(3):
2013.September.19.13
DOI:
10.4238/2013.September.19.13
Human Genetics   Research Article

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Authors: S.E. Aydos, A. Karada��, T. ��zkan, B. Alt�±nok, M. Bunsuz, S. Heidargholizadeh, K. Aydos and A. Sunguro��lu

Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired reproductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug resistance1 (MDR1) gene encodes a P.. Read More»

Genet. Mol. Res. 14(2):
2015.June.11.8
DOI:
10.4238/2015.June.11.8