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Human Genetics

Human Genetics   Research Article

Expression of ezrin and moesin related to invasion, metastasis and prognosis of laryngeal squamous cell carcinoma

Authors: X. Wang, M. Liu and C.Y. Zhao

We examined the expression of ezrin and moesin in laryngeal squamous cell carcinoma (LSCC) and their correlation with patient clinicopathological characteristics and overall survival. Immunohistochemical staining and reverse transcription-polymerase chain reaction (RT-PCR) for ezrin and moesin were applied to 60 carcinoma tissues, adjacent normal tissues,.. Read More»

Genet. Mol. Res. 13(3):
2014.September.29.13
DOI:
10.4238/2014.September.29.13
Human Genetics   Research Article

Risk of colorectal cancer associated with the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in the Kashmiri population

Authors: A.S. Sameer, Z.A. Shah, S. Nissar, S. Mudassar and M.A. Siddiqi

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA synthesis, DNA repair and DNA methylation. The two common functional polymorphisms of MTHFR, 677 C→T and 1298 A→C, have been shown to impact various diseases, including cancer. The 677 C→T polymorphism ha.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1067
DOI:
10.4238/vol10-2gmr1067
Human Genetics   Research Article

Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing

Authors: L.S. Chen, S.J. Shi, P.S. Zou, M. Ma, X.H. Chen and D.H. Cao

Short rib-polydactyly syndrome type III (SRPS3) is a perinatal lethal skeletal disorder with polydactyly and multisystem organ abnormalities. While ultrasound of the fetus can detect skeletal abnormalities characteristic of SRPS3, the syndrome is often difficult to diagnose before birth. As SRPS3 is an autosomal recessive diso.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028134
DOI:
10.4238/gmr.15028134
Human Genetics   Research Article

Matrix metalloproteinase-9 gene polymorphism in hepatocellular carcinoma patients with hepatitis B and C viruses

Authors: A. El Samanoudy, R. Monir, A. Badawy, L. Ibrahim, K. Farag, S. El Baz, D. Alenizi and A. Alenezy

Hepatocellular carcinoma (HCC) is the fifth most common malignancy worldwide. In Egypt, the incidence of HCC has doubled over the last decade. Matrix metalloproteinase-9 (MMP-9) plays a key role in cancer invasion and metastasis by degrading the extracellular matrix and basement membrane barriers. A cytosine (C)/thymidine (T) .. Read More»

Genet. Mol. Res. 13(3):
2014.September.29.15
DOI:
10.4238/2014.September.29.15
Human Genetics   Research Article

Meta-analysis of the IL-10 promoter polymorphisms and pediatric asthma susceptibility

Authors: Z.Y. Huang, B.J. Cheng, Y. Wan and C. Zhou

The results of previous epidemiological studies exploring the relationship between interleukin-10 (IL-10) promoter polymorphisms and susceptibility to pediatric asthma are not consistent. Therefore, we have performed a systematic review and meta-analysis to provide a more convincing conclusion. Odds ratios (OR) with their 95% .. Read More»

Genet. Mol. Res. 15(2):
gmr.15028320
DOI:
10.4238/gmr.15028320
Human Genetics   Research Article

Correlation between Y chromosome microdeletion and male infertility

Authors: X.G. Liu, H.Y. Hu, Y.H. Guo and Y.P. Sun

Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polyme.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028426
DOI:
10.4238/gmr.15028426
Human Genetics   Research Article

Correlation between polymorphisms in the glucocorticoid receptor gene NR3C1 and susceptibility to asthma in a Chinese population from the Henan Province

Authors: Z. Cheng, L.L. Dai, Q. Liu, M. Liu, Q. Wang, P.F. Li, H. Wang, L.Q. Jia and L. An

The aim of this study was to investigate the association between four single nucleotide polymorphisms in NR3C1 (Tth111I, BclI, ER22/23EK, and N363S), which encode the glucocorticoid receptor, and asthma susceptibility in patients from the Henan Province of China. Three hundred and twenty-eight patients with asthma and 60 healt.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028507
DOI:
10.4238/gmr.15028507
Human Genetics   Research Article

Association between N-acetyltransferase 2 polymorphisms and pancreatic cancer risk: a meta-analysis

Authors: J.X. Liang, W. Gao, Y. Liang and X.M. Zhou

N-acetyltransferase 2 (NAT2) is an essential phase II enzyme in the metabolism of aromatic and heterocyclic amines and of hydrazines. NAT2 activity can be divided into three phenotypes: rapid, intermediate, and slow. Studies identifying an association between NAT2 polymorphism and the risk of pancreatic cancer have shown conflicting results. In order to a.. Read More»

Genet. Mol. Res. 14(4):
2015.December.16.21
DOI:
10.4238/2015.December.16.21
Human Genetics   Research Article

Analyzing the association between XRCC1 c.1804C>A genetic variant and lung cancer susceptibility in the Chinese population

Authors: J.J. Jin, H.Q. Wang, H.P. Kuang, B.B. Kang, Y.H. Liu and J. Wang

Lung cancer is the most common cancer occurring worldwide. The human X-ray repair complementing group 1 (XRCC1) gene is one of the most important candidate genes that influence the susceptibility to lung cancer. The objective of this study was to analyze the potential association between the c.1804C>A genetic variant of XRC.. Read More»

Genet. Mol. Res. 15(2):
gmr.15024661
DOI:
10.4238/gmr.15024661
Human Genetics   Research Article

Meta-analysis of the TNF-�±-308G/A polymorphism and vitiligo risk

Authors: G. Nie, J.H. Qi, C.W. Huang, T. Yang, N. Shi and Y.J. Chen

Several case-control studies have been conducted to investigate the association between the tumor necrosis factor-α (TNF-α)-308G/A polymorphism and vitiligo risk. However, the results of these studies are inconsistent; therefore, we attempted to comprehensively evaluate the association between TNF-α-308G/A polymorphism and vitiligo risk .. Read More»

Genet. Mol. Res. 14(4):
2015.December.16.30
DOI:
10.4238/2015.December.16.30