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Human Genetics

Human Genetics   Research Article

Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer

Authors: Y. Yu, F. Lv, H. Lin, G. Qian, Y.S. Jiang, L.X. Pang, Y.P. Wang, X.F. Wang, Y.M. Kang, C.B. Li, Q. Liu, J.Z. Xu and W. You

Mitochondrial DNA mutations have been found to play important roles in carcinogenesis. The most common G10398A mutation, a non-conservative amino acid substitution from Thr to Ala, seems to be involved in the tumorigenesis of breast cancer. Results from studies concerning this mutation remain inconclusive. In the current study, we first took clinical and .. Read More»

Genet. Mol. Res. 14(4):
2015.December.21.12
DOI:
10.4238/2015.December.21.12
Human Genetics   Research Article

Meta-analysis of the correlation between the TNF-�± 308G/A polymorphism and polycystic ovary syndrome

Authors: X.B. Liu, X.H. Deng, B. Zhou, L. Zhang and X.M. Niu

Previous studies have suggested that the tumor necrosis factor alpha (TNF-α) gene 308G/A polymorphism may be associated with polycystic ovary syndrome (PCOS) risk. However, this relationship is controversial. The present meta-analysis aimed to evaluate the correlation between the TNF-α308G/A polymorphism and suscep.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027923
DOI:
10.4238/gmr.15027923
Human Genetics   Research Article

Association between matrix metallopeptidase 1 and type 2 diabetes mellitus coexisting with coronary heart disease in a Han Chinese population

Authors: Y.Z. Ma, Q.Y. Jiang and D.Q. Kong

Matrix metallopeptidase 1 (MMP-1) has been reported to be involved in the coexistence of type 2 diabetes mellitus (T2DM) and coronary heart disease (CHD). We sought to examine the association between the MMP-1 gene polymorphism and coexistence of T2DM and CHD in a Han Chinese population. We extracted genomic DNA from the perip.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027938
DOI:
10.4238/gmr.15027938
Human Genetics   Research Article

Association between transcription factor 7-like 2 genetic polymorphisms and development of type 2 diabetes in a Chinese population

Authors: H.Y. Jia, Q.Z. Li and L.F. Lv

We conducted a hospital-based case-control study to evaluate the relationship between the transcription factor 7-like 2 (TCF7L2) rs7903146 polymorphism and type 2 diabetes mellitus risk in a Chinese population. Genotyping of TCF7L2 rs7903146 was carried out using the polymerase chain reaction-restriction fragment length polymo.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028223
DOI:
10.4238/gmr.15028223
Human Genetics   Research Article

TNFR1-383 A��C polymorphism association with clinical manifestations in primary Sj�¶grenâ��s syndrome patients

Authors: A.L. Fletes-Rayas, C.A. Palafox-S�¡nchez, J.F. Mu�±oz-Valle,G. Orozco-Barocio, R.E. Navarro-Hern�¡ndez and E. Oregon-Romero

Primary Sjögren’s syndrome is an autoimmune disease affecting the function of exocrine glands. Tumor necrosis factor receptor-1 (TNFR1) is involved in apoptosis through extrinsic pathway initiation. The level of soluble TNFR1 is reported increased in rheumatoid arthritis, systemic lupus erythematosus, and primary Sj.. Read More»

Genet. Mol. Res. 15(2):
gmr.15024177
DOI:
10.4238/gmr.15024177
Human Genetics   Research Article

Association of vitamin D receptor gene polymorphisms with end-stage renal disease and the development of high-turnover renal osteodystrophy in a Chinese population

Authors: L.Y. Wang, P. Zhang, H.F. Wang, Z.W. Qin, K.B. Wei and X.A. Lv

Two single nucleotide polymorphisms (SNPs; TaqI and ApaI) in the vitamin D receptor (VDR) gene have been identified as risk factors for the progression of end-stage renal disease (ESRD). The purpose of our study was to confirm the reported association of these two SNPs with ESRD risk and progression of renal osteodystrophy in .. Read More»

Genet. Mol. Res. 15(2):
gmr.15026825
DOI:
10.4238/gmr.15026825
Human Genetics   Research Article

Expression and clinical implications of enhancer of Zeste homolog 2 and p53 protein in squamous cell carcinoma and precancerous lesions in the cervix

Authors: H.M. Zhang, S.Q. Chen and S.Z. Yao

We investigated the expression and clinical implications of enhancer of Zeste homolog 2 (EZH2) and p53 protein in cervical squamous cell carcinoma (SCC) and precancerous lesions. EZH2 and p53 expressions in SCC (168), cervical intraepithelial neoplasia (CIN)-I (19), CIN-II (35), and normal tissues (30) were detected by strepta.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027408
DOI:
10.4238/gmr.15027408
Human Genetics   Research Article

Alleviation of spinal cord injury by Ginkgolide B via the inhibition of STAT1 expression

Authors: J.L. Zheng, B.S. Li, X.C. Cao, W.K. Zhuo and G. Zhang

Ginkgolide B has been known to inhibit cell apoptosis by modulating multiple cytokines and plays an important role in neuroprotection. Signal transducer and activator of transcription 1 (STAT1) has been studied in a spinal cord injury (SCI) model. However, the role of Ginkgolide B in SCI treatment remains unclear. This study i.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027673
DOI:
10.4238/gmr.15027673
Human Genetics   Research Article

Glutathione S-transferase P1 rs1695 A>G polymorphism and breast cancer risk: evidence from a meta-analysis

Authors: M. Kuang, W. Xu, C.X. Cao, L.L. Shen, J. Chang, X.L. Zhang, J.F. Chen and C.J. Tang

Breast cancer (BC) is the most widespread cause of cancer-related deaths in women. Many published studies have assessed the association between the glutathione S-transferase P1 (GSTP1) rs1695 polymorphism and BC risk. However, the effect of the GSTP1 rs1695 polymorphism on BC risk has remained controversial. Therefore, this me.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027771
DOI:
10.4238/gmr.15027771
Human Genetics   Research Article

Interleukin-6 (IL-6) -174G/C genomic polymorphism contribution to the risk of coronary artery disease in a Chinese population

Authors: L. Mao, G.Y. Geng, W.J. Han, M.H. Zhao, L. Wu and H.L. Liu

To investigate the role of IL-6 polymorphism (-174G/C and -572C/G) in the development of coronary artery disease (CAD), CAD patients (224) and control subjects (260) were recruited between January 2012 and December 2014. Genotyping at IL-6 -174G/C and -572C/G was conducted via polymerase chain reaction coupled to restriction f.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027803
DOI:
10.4238/gmr.15027803