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Human Genetics

Human Genetics   Research Article

Role of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in polycystic ovary syndrome risk

Authors: J.B. Wu, J.F. Zhai and J. Yang

Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the ris.. Read More»

Genet. Mol. Res. 15(4):
gmr15048570
DOI:
10.4238/gmr15048570
Human Genetics   Research Article

ABCB1 gene expression in peripheral blood mononuclear cells in healthy Thai males and females

Authors: P. Sudchada, S. Oo-puthinan, O. Kerdpin and N. Saelim

We compared the expression of the ABCB1 gene in healthy male and female Thai subjects; this gene encodes the P-glycoprotein transporter in peripheral blood mononuclear cells (PBMCs). We also identified the most suitable housekeeping genes for normalization of ABCB1 expression levels in PBMCs. PBMCs from 30 females and 26 males.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr813
DOI:
10.4238/vol9-2gmr813
Human Genetics   Research Article

Association analysis of vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Mexican-Mestizo women

Authors: A. Gonz�¡lez-Mercado, J.Y. S�¡nchez-L�³pez, J.A. Regla-Nava,a, J.I. G�¡mez-Nava, L. Gonz�¡lez-L�³pez, J. Dur�¡n-Gonz�¡lez, A. Celis, F.J. Perea-D�­az, M. Salazar-P�¡ramo and B. Ibarra

We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI T>C (rs731236), with bone mineral density (BMD) in postmenopausal Mexican-Mestizo women. Three hundred and twenty postmenopausal women participated, who were classified according to World .. Read More»

Genet. Mol. Res. 12(3):
2013.July.30.13
DOI:
10.4238/2013.July.30.13
Human Genetics   Research Article

MTHFR C677T polymorphism and osteoporotic fracture in postmenopausal women: a meta-analysis

Authors: J.Z. Guan, M. Wu, Y.Z. Xiao, J.S. Zhou and Z.D. Wang

Numerous studies have evaluated the association between MTHFR C677T polymorphism and osteoporotic fracture risk in postmenopausal women. However, the results have been inconsistent. We performed a meta-analysis of the association between MTHFR C677T polymorphism and osteoporotic fracture risk in postmenopausal women. Only seve.. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.1
DOI:
10.4238/2014.September.12.1
Human Genetics   Research Article

Correlation between hepcidin level and renal anemia

Authors: L.-N. Yang, P. Zhang, F. Tang, G. Wang and F.-E. Li

Anemia in patients with chronic renal insufficiency (CRI) is related to the chronic inflammatory state, low iron absorption rate, and low utilization rate. As a key protein for iron metabolism, hepcidin plays an important role in CRI anemia. The study aimed to determine the correlation between hepcidin level and renal anemia. .. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.6
DOI:
10.4238/2014.September.12.6
Human Genetics   Research Article

Association between a functional variant in microRNA-27a and susceptibility to colorectal cancer in a Chinese Han population

Authors: Y. Cao, J. Hu, Y. Fang, Q. Chen and H. Li

Polymorphisms in pri-, pre-, and mature-microRNAs (miRNAs) have been proposed to be associated with various human cancers. Common single nucleotide polymorphisms (SNPs) in miRNA genes can influence the maturation of miRNAs or miRNA-mediated transcriptional regulation. Through genotyping the rs895819 SNP in 254 colorectal cance.. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.8
DOI:
10.4238/2014.September.12.8
Human Genetics   Research Article

Antioxidant content and cytological examination of aqueous fluid from patients with age-related cataracts at different stages

Authors: X. Wang, J. Sun, G.F. Dang, Y. Gao, L. Duan and X.Y. Wu

We investigated the antioxidant content and conducted a cytological examination of the aqueous fluid and lenses of patients with age-related cataracts at different stages. The levels of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GSHPX) in the aqueous fluid and lenses were determined by the xanthine oxidase method, the colorime.. Read More»

Genet. Mol. Res. 14(2):
2015.June.9.11
DOI:
10.4238/2015.June.9.11
Human Genetics   Research Article

Quantitative assessment of the effects of the EPHX1 Tyr113His polymorphism on lung and breast cancer

Authors: X. Tan, Y.Y. Wang, X.Y. Chen, L. Xian, J.J. Guo1, G.B. Liang and M.W. Chen

The association between the microsomal epoxide hydrolase 1 gene (EPHX1) Tyr113His polymorphism and lung cancer and breast cancer risk has been reported in many recent studies, but there is no consensus among the results. Thus, we examined the association between the EPHX1 Tyr113His polymorphism and lung cancer through a meta-a.. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.10
DOI:
10.4238/2014.September.12.10
Human Genetics   Research Article

Metastatic renal cell carcinoma to the left maxillary sinus

Authors: Y.-F. He, J. Chen, W.-Q. Xu, C.-S. Ji, J.-P. Du, H.-Q. Luo and B. Hu

Metastatic tumors in the paranasal sinuses are very rare. The origin of metastatic tumors in the paranasal sinuses is often renal cancer. Renal cell carcinomas are known for their tendency for early metastasis, and symptoms due to the metastatic lesion may be the only initial manifestation. In this paper, we deal with the case.. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.12
DOI:
10.4238/2014.September.12.12
Human Genetics   Research Article

Distribution of CXCR2 +1208 T/C gene polymorphisms in relation to opportunistic infections among HIV-infected patients in Limpopo Province, South Africa

Authors: A. Samie, G.A. Dzhivhuho and T.C. Nangammbi

Interleukin 8 (IL-8) is a chemokine produced by macrophages and other cell types, including epithelial cells, and its receptor is CXCR2. IL-8 plays an important role in the initiation and amplification of inflammatory diseases, including opportunistic infections. With the advent of human immunodeficiency virus (HIV) and acquir.. Read More»

Genet. Mol. Res. 13(3):
2014.September.12.13
DOI:
10.4238/2014.September.12.13