Human Genetics
Association between the CDH1-472delA and -160C>A polymorphisms and diffuse and intestinal gastric cancer in a Mexican population
Authors: A.R. Bustos-Carpinteyro, N. Delgado-Figueroa, E. Santiago-Luna, M.T. Maga�±a-Torres and J.Y. S�¡nchez-L�³pez
Gastric cancer (GC), the third leading cause of cancer-related deaths in Mexico and worldwide, can be classified into diffuse (DGC) or intestinal (IGC) types based on its histological characteristics. DGC is characterized by reduced expression of the cell adhesion protein E-cadherin, which is encoded by CDH1. The -472delA (rs5030625) and -160C>A (rs162.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038715
- DOI:
- 10.4238/gmr.15038715
MDR1 C3435T polymorphism in Mexican patients with breast cancer
Authors: N.M. MacÃ?Âas-GÃ?³mez, M. GutiÃ?©rrez-Angulo, E. Leal-Ugarte, L. RamÃ?Ârez-Reyes, J. Peregrina-Sandoval, J.P. Meza-Espinoza, F. Ramos Solano, M. de la Luz Ayala-Madrigal and F. Santoyo Telles
We investigated whether the MDR1 C3435T polymorphism is associated with fibrocystic changes (FCC), infiltrating ductal breast cancer (IDBC), and/or clinical-pathological features of IDBC in Mexican patients. Samples from women who received surgical treatment in 2007 at the Centro Médico de Occidente (Méx.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.4.17
- DOI:
- 10.4238/2014.July.4.17
Influence of CYP2C19 on Helicobacter pylori eradication in Brazilian patients with functional dyspepsia
Authors: D.D. Nabinger, L.E. Mazzoleni, G.B. Sander, F. Mazzoleni, M.C. Os�³rio, M.G. Klein, T.F. Rech, L. Basso da Silva, G.S. de Moraes, R.A. Cristovam, E.F. Nardelli, C.F.M. Francesconi and D. Simon
The aim of this study was to examine the effect of polymorphisms in the cytochrome P450 (CYP) 2C19 gene (CYP2C19) on the Helicobacter pylori eradication rate in Brazilian patients with functional dyspepsia. Adults diagnosed with functional dyspepsia based on the ROME III criteria and infected with H. pylori were recruited to this study. The patients were .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038734
- DOI:
- 10.4238/gmr.15038734
Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing
Authors: J.J. Xue, J.F. Xue, H.Q. Xue, Y.Y. Guo, Y. Liu and N. Ouyang
Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genet.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038743
- DOI:
- 10.4238/gmr.15038743
Association between peptidyl arginine deiminase 4 (PADI4)-104C/T polymorphism and rheumatoid arthritis: a meta-analysis in the Chinese population
Authors: L.L. Gong, J. Chang and Y.M. Yang
The correlation between the -104C/T polymorphism in the peptidyl arginine deiminase 4 (PADI4) gene and rheumatoid arthritis (RA) risk has been analyzed in several studies. However, the results are inconclusive and remain to be confirmed in several ethnic groups. The effect of the PADI4-104C/T polymorphism on RA risk in the Chinese population was evaluated.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038750
- DOI:
- 10.4238/gmr.15038750
Effect of specific silencing of EMMPRIN on the growth and cell cycle distribution of MCF-7 breast cancer cells
Authors: X.Q. Yang, J. Yang, R. Wang, S. Zhang, Q.W. Tan, Q. Lv, W.T. Meng, X.M. Mo, H.J. Li
The extracellular matrix metalloproteinase inducer (EMMPRIN, CD147) is a member of the immunoglobulin family and shows increased expression in tumor cells. We examined the effect of RNAi-mediated EMMPRIN gene silencing induced by lentiviral on the growth and cycle distribution of MCF-7 breast cancer cells. Lentiviral expressin.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.24
- DOI:
- 10.4238/2015.December.1.24
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia
Authors: J.J. Xue, B. Tan, Q.P. Gao,G.S. Zhu,D.S. Liang,L.Q. Wu
This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.29
- DOI:
- 10.4238/2015.December.1.29
Polymorphisms in CYP17, COMT, and ESR1 genes in women after menopause and association with bone mineral density
Authors: C.G. Gon�§alves, B.C. Almeida, C.M. Camargo-Kosugi, A.M.M. Costa, I.D.C.G. Silva, M.A. Haidar
In this study, we evaluated genetic factors related to the mineral density during post-menopause. We evaluated 110 women in the first 5 years post-menopause, without previous hormone replacement therapy. Cytochrome P450 17 (CYP17) (rs743572), catechol-O-methyl transferase (COMT) (rs4680), and estrogen receptor 1 (ESR1) (rs9322.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.32
- DOI:
- 10.4238/2015.December.1.32
Investigation of the association between Interleukin-10 polymorphisms and risk of acute pancreatitis in a Chinese population
Authors: H.L. Jia, P.L. Sun,C.Q. Lu
We conducted a case-control study to investigate the possible association between three common single nucleotide polymorphisms in interleukin-10 (IL-10) and the development of acute pancreatitis in a Chinese population. Between January 2013 and December 2014, 255 patients with acute pancreatitis and 255 control subjects were r.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.39
- DOI:
- 10.4238/2015.December.1.39
Prevention of DNA damage and anticarcinogenic activity of Activia�® in a preclinical model
Authors: S.M.A. Limeiras, F.M. Ogo, L.A.L. Genez, C.M. Carreira,E.J.T. Oliveira, L.R. Pessatto, S.C. Neves, J.R. Pesarini, L.C. Schweich, R.A. Silva, W.B. Cantero, A.C.M.B. Antoniolli-Silva, R.J. Oliveira
Colorectal cancer is a global public health issue. Studies have pointed to the protective effect of probiotics on colorectal carcinogenesis. Activia® is a lacto probiotic product that is widely consumed all over the world and its beneficial properties are related, mainly, to the lineage of traditional yoghurt bacteria comb.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019492
- DOI:
- 10.4238/gmr16019492