Human Genetics
Influence of COL1A2 gene variants on the incidence of hypertensive intracerebral hemorrhage in a Chinese population
Authors: D.Z. Tian, W. Wei and Y.J. Dong
ype I collagen (transcribed by COL1A1 and COL1A2 genes) is important for maintaining vessel wall elasticity and is a critical part of the extracellular matrix. We conducted a case-control study to investigate the role of the COL1A2 rs42524 polymorphism in the development of hypertensive intracerebral hemorrhage. Between January 2012 and December 2014, a t.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017369
- DOI:
- 10.4238/gmr.15017369
Analysis of specific serum markers of colon carcinoma using a Bhattacharyya-based support vector machine
Authors: W.Y. Yang, G. Shi, L.P. Wu, S.T. Wei, Y.N. Huang, L.X. Tan, R.Z. Yang, C.X. Yan, E.T. Guo, H.Y. Wang, J.Z. Tong, Y. Dong and D.Z. Han
We aimed to evaluate the specificity of 12 tumor markers related to colon carcinoma and identify the most sensitive index. Bhattacharyya distance was used to evaluate the index. Then, different index combinations were used to establish a support vector machine (SVM) diagnosis model of malignant colon carcinoma. The accuracy of.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019521
- DOI:
- 10.4238/gmr16019521
Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings
Authors: J.F. Franco1, D.C. Soares1, L.C. Torres2, G.N. Leal1, M.T. Cunha1,R.S. Honjo1, D.R. Bertola1 and C.A. Kim1
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B encoded by the ARSB gene. Treatment of this disease with enzyme-replacement therapy (ERT) improves the clinical status of and generates hope for MPS VI patients. However, only few r.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017850
- DOI:
- 10.4238/gmr.15017850
Role of inosine triphosphate pyrophosphatase gene variant on fever incidence during zidovudine antiretroviral therapy
Authors: A.V.C. Coelho, S.P.S. Silva, L. Zandon� , G. Stocco, G. Decorti and S. Crovella
Zidovudine, the antiretroviral drug used to treat HIV infection, commonly causes adverse effects, such as systemic fever and gastrointestinal alterations. In the present study, the potential role of inosine triphosphate pyrophosphatase (ITPA) gene variant on the incidence of adverse events during antiretroviral therapy (ART) o.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019373
- DOI:
- 10.4238/gmr16019373
Prevalence of thymidylate synthase gene 5'-untranslated region variants in an Argentinean sample
Authors: C. VÃ?¡zquez, M. Orlova, P. Scibona, H. DÃ?Âaz Arce, M.G. Pallotta and W.H. Belloso
Thymidylate synthase (TYMS) is a key enzyme in nucleotide synthesis and therefore, an important target of many chemotherapeutic agents. Expression of TYMS mRNA is thought to be modulated by a 28-bp tandem repeat polymorphism within its 5'-untranslated region, raising the question of this variant’s utility in predicting t.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019367
- DOI:
- 10.4238/gmr16019367
Application value of multislice spiral computed tomography angiography in the evaluation of renal artery variation in living donor kidney transplantation
Authors: X.Y. Zhao, J. Tian, Y.H. Ru, B. Sun, C.F. Sun, A.M. Zhang and Y.H. Shao
This study aims to investigate the accuracy and value of multislice spiral computed tomography (MSCT) angiography in the evaluation of renal artery variation in living donor kidney transplantation. Two hundred seventy-three kidney transplantation donors underwent preoperative MSCT scanning. Two doctors determined the running direction and variation of the re.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.5
- DOI:
- 10.4238/2015.January.23.5
Silencing miR-181a produces neuroprotection against hippocampus neuron cell apoptosis post-status epilepticus in a rat model and in children with temporal lobe epilepsy
Authors: L. Ren1*, R. Zhu2* and X. Li1
Epilepsy is one of the most frequent neurological disorders. Recently, the regulation of microRNAs was found to be associated with epilepsy, but the molecular mechanism by which microRNA influences epilepsy process remains to be unveiled and the development of microRNA-based therapy requires more intensive research. In this study, five microRNAs with pote.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017798
- DOI:
- 10.4238/gmr.15017798
Effect of ZNF217 gene polymorphisms on colorectal cancer development in a Mexican population
Authors: R. RamÃ?Ârez-RamÃ?Ârez, M. GutiÃ?©rrez-Angulo, M.T. MagaÃ?±a, J.M. Moreno-Ortiz, M. Partida-PÃ?©rez, R. MuÃ?±iz-Mendoza, J. Peregrina-Sandoval, A.S. SuÃ?¡rez-Villanueva, M. Centeno-Flores, V.M. Maciel-GutiÃ?©rrez, E. Cabrales-Vazquez and M.L. Ayala-Madrigal
The ZNF217 gene, a potential oncogene amplified and overexpressed in several cancers including colorectal cancer (CRC), acts as a transcription factor that activates or represses target genes. The polymorphisms rs16998248 (T>A) and rs35720349 (C>T) in coronary artery disease have been associated with reduced expression of ZNF217. In this study, we analyzed t.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.9
- DOI:
- 10.4238/2015.January.23.9
Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant
Authors: O.F. Khabour K.H. Alzoubi S.I. Al-Azzam N.M. Mhaidat
The multidrug resistance gene (MDR1 or ABCB1) codes for P-glycoprotein, which plays an important role in regulating absorption, distribution, and elimination of drugs. We examined MDR1 gene variants in 100 unrelated subjects from various regions of Jordan. The MDR1 gene was scanned using direct sequencing. Six rare variants in MDR1 were detected, includin.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.13.9
- DOI:
- 10.4238/2013.March.13.9
Effect of IL-18 gene promoter polymorphisms on prostate cancer occurrence and prognosis in Han Chinese population
Authors: J.M. Liu J.N. Liu M.T. Wei Y.Z. He Y. Zhou X.B. Song B.W. Ying J. Huang
Interleukin-18 (IL-18) has been implicated in a wide variety of cellular functions that affect the biological response to tumors. However, there is insufficient evidence to prove that IL-18 gene variants are associated with risk of prostate cancer. We examined a possible association between two promoter polymorphisms, -137G/C (rs187238) and -607C/A (rs194651.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.15.2
- DOI:
- 10.4238/2013.March.15.2