Single Nucleotide Polymorphisms
Prognostic value of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms and the susceptibility to gliomas in individuals from Southeast Brazil
Authors: G.R. Pinto, F.K.N. Yoshioka, R.L.L. Silva, C.A. Clara, M.J. Santos, J.R.W. Almeida, R.R. Burbano, J.A. Rey and C. Casartelli
The TP53 tumor suppressor gene codifies a protein responsible for preventing cells with genetic damage from growing and dividing by blocking cell growth or apoptosis pathways. A common single nucleotide polymorphism (SNP) in TP53 codon 72 (Arg72Pro) induces a 15-fold decrease of apoptosis-inducing ability and has been associat.. Read More»
- Genet. Mol. Res. 7(1):
- vol7-1gmr415
- DOI:
- 10.4238/vol7-1gmr415
Optimization of a multiplex minisequencing protocol for population studies and medical genetics
Authors: Cl�¡udia M.B. Carvalho and S�©rgio D.J. Pena
Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research labor.. Read More»
- Genet. Mol. Res. 4(2):
Relationship between EPHX2 gene polymorphisms and essential hypertension in Uygur, Kazakh, and Han
Authors: X.L. Zhu, L. Wang, Z. Wang, S.Z. Chen, W.Q. Zhang and M.M. Ma
We investigated the association between rs751141 polymorphisms in the EPHX2 gene and essential hypertension in Uygur, Kazakh, and Han subjects in Xinjiang, China. A total of 302 essential hypertensive patients in Uygur, 267 in Kazakh, and 368 in Han, as well as 323 normotensive controls in Uygur, 284 in Kazakh, and 348 in Han were enrolled in this study. .. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.15.11
- DOI:
- http://dx.doi.org/10.4238/2015.April.15.11
Regulators of G-protein signaling 9 genetic variations in Chinese subjects with schizophrenia
Authors: Y.S. Zhu, Y.X. Li, X.M. Qiao and H.B. Zhang
To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms (rs1530351, rs4791230, rs2869577, rs8077696, rs8070231, rs2292592, rs9916525, rs1122079, and rs4790953) in the G-protein signaling 9 gene. The particip.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.28.13
- DOI:
- 10.4238/2015.July.28.13
Association between polymorphisms in exons 4 and 10 of the BPI gene and immune indices in Sutai pigs
Authors: Z.C. Wu, Y. Liu, Q.H. Zhao, S.P. Zhu, Y.J. Huo, G.Q. Zhu, S.L. Wuand W.B. Bao
The bactericidal/permeability-increasing protein (BPI) gene has been identified as a candidate gene for disease-resistance breeding. We evaluated whether polymorphisms in exons 4 and 10 of the BPI gene are associated with immune indices [interleukin-2 (IL- 2), IL-4, IL-6, interferon-b (IFN-b), IL-10, and IL-12]. In this study, we identified one mutation (.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.8.2
- DOI:
- 10.4238/2015.June.8.2
Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study
Authors: W.H. Huang, L.H. Nie, L.J. Zhang, L.P. Jing, F. Dong, M. Wang, N. Zhang, Y. Liu, B.H. Zhang, C. Chen, H.S. Lin, X.C. Wei, G. Yang and C.X. Jing
Toll-like receptors (TLRs), the triggers of the innate and adaptive immune responses, are involved in the pathogenesis of type 2 diabetes mellitus (T2DM). Several studies have investigated the effects of genetic polymorphisms in TLR4 and TLR2, but they have yielded limited results. We investigated whether non-missense geneticpolymorphisms in the regulator.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.31.18
- DOI:
- 10.4238/2015.July.31.18
Association of c.461G>A genetic variant of OGG1 gene with pancreatic cancer susceptibility in Chinese
Authors: Z.M. Zhao, C.G. Li, M.G. Hu, G.D. Zhao and R. Liu
This study aimed to evaluate the potential association of single nucleotide polymorphisms of the 8-oxoguanine DNA glycosylase gene (OGG1) with susceptibility to pancreatic cancer (PC). A total of 764 Chinese Han subjects were recruited in this study. The polymerase chain reaction-restriction fragment length polymorphism and DN.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.September.5.10
- DOI:
- 10.4238/2014.September.5.10
Prevalence of CYP2C8 polymorphisms in a North Indian population
Authors: S. Minhas, N. Setia, S. Pandita, R. Saxena, I.C. Verma and S. Aggarwal
CYP2C8 is an important member of the cytochrome P450 family of enzymes; it affects the activity of various drugs used in routine clinical practice, including amiodarone, chloroquine, amodiaquine, and repaglinide, as well as endogenous compounds, such as arachidonic acid and retonic acid. It is also the main enzyme involved in the metabolism of the widely .. Read More»
- Genet. Mol. Res. 12(3):
- 2013.July.8.7
- DOI:
- 10.4238/2013.July.8.7
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
Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms
Authors: J.R. Pimenta and S.D.J. Pena
We developed a panel of 40 multiplexed short insertion-deletion (indel) polymorphic loci with widespread chromosomal locations and allele frequencies close to 0.50 in the European population. We genotyped these markers in 360 unrelated self-classified White Brazilians and 50 mother-child-probable father trios with proven pater.. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr838
- DOI:
- 10.4238/vol9-1gmr838