Human Genetics
Genetic variations in the Wnt signaling pathway affect lung function in asthma patients
Authors: S.-H. Wang, F. Xu1, H.-X. Dang and L. Yang
Identifying genetic determinants for lung function is important in providing insight into the pathophysiology of asthma. The Wnt signal pathway plays a role in lung development and in asthma pathogenesis. However, whether genetic polymorphisms of Wnt signal pathway are associated with lung function in asthma patients remain unclear. We genotyped 2 single .. Read More»
- Genet. Mol. Res. 12(2):
- 2013.January.4.1
- DOI:
- 10.4238/2013.January.4.1
A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome
Authors: Y. Yin1,X.-H. Liu2,X.-H. Li,N. Fan,D.-F. Lei,Y. Wang,S.-P. Cai,X.-M. Zhou,X.-M. Chen and X.-Y. Liu
The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was perf.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.27.27
- DOI:
- http://dx.doi.org/10.4238/2015.April.27.27
Meta-analysis of microsomal epoxide hydrolase gene polymorphism and the risk of breast carcinoma
Authors: J.H. Zhong,L.Q. Li,X.S. Mo,W.F. Gong,L. Ma,J. Chen and X.-M. You
Carcinogenesis of breast carcinoma is very complicated. Previous studies have suggested conflicting results regarding the association between Tyr113His and His139Arg microsomal epoxide hydrolase (mEH) gene polymorphisms and risk of breast carcinoma. We conducted a meta-analysis to examine the relationship between these polymorphisms and breast carcinoma r.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.27.28
- DOI:
- http://dx.doi.org/10.4238/2015.April.27.28
Association between polymorphisms in the adiponectin gene (APM-1) and atherosclerotic cerebral infarction in a Hainan Chinese Han population
Authors: P. He, X.L.Chen and Y.P. Ding
We investigated the association between polymorphisms in the adiponectin gene (APM-1) and atherosclerotic cerebral infarction (ACI) in a Chinese Han population of Hainan Province. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to analyze the distribution of APM-1 +45T/G and +276G/T genotypes and their alle.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.27.29
- DOI:
- http://dx.doi.org/10.4238/2015.April.27.29
Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family
Authors: E.R. Valadares*, A.L.C. Trindade*, L.R. Oliveira, R.R. Arantes, M.V. Daker, B.M. Viana, V.G. Haase, L.B. Jardim, G.C. Lopes and A.L.B. Godard
Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating .. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr975
- DOI:
- 10.4238/vol10-1gmr975
Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population
Authors: Q.-Q. Lv,J. Lu,H. Sun and J.-S. Zhang
The association between the MTHFR genetic polymorphism and ischemic stroke has been reported by a number of investigators. However, the results have been controversial and conflicting. The aim of this study was to explore the association between the MTHFR variants C677T and A1298C and the risk of ischemic stroke in an Eastern Chinese Han population. A tot.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.27.31
- DOI:
- http://dx.doi.org/10.4238/2015.April.27.31
Diagnostic values of microRNA-31 in peripheral blood mononuclear cells for pediatric pulmonary tuberculosis in Chinese patients
Authors: J.X. Wang, J. Xu, Y.F. Han, Y.B. Zhu and W.J. Zhang
We investigated the diagnostic values of microRNA-31 in peripheral blood mononuclear cells (PBMCs) for pediatric pulmonary tuberculosis in Chinese patients. Sixty-five children with TB were selected for this study, which was conducted at the Department of Infectious Diseases People’s Hospital of Laiwu City between December 2013 and December 2014. Si.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.16.23
- DOI:
- 10.4238/2015.December.16.23
Association of TIRAP (MAL) gene polymorhisms with susceptibility to tuberculosis in a Chinese population
Authors: Y.X. Zhang, Y. Xue, J.Y. Liu, M.Y. Zhao, F.J. Li, J.M. Zhou, H.J. Wang and J.C. Li
Toll-interleukin 1 receptor (TIR) domain containing adaptor protein (TIRAP; also known as MAL) is an essential adaptor molecule in Toll-like receptor signaling, involved in activating the innate immune response during infection. Genetic variations in the TIRAP gene may influence human susceptibility to infectious disease. To d.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr980
- DOI:
- 10.4238/vol10-1gmr980
Genetic variability of DNA repair mechanisms in chemotherapy treatment outcome of gastric cancer patients
Authors: G. Zhong, H.K. Li, T. Shan and N. Zhang
We investigate whether three common polymorphisms in ERCC1 and ERCC2 are predictor factors for the chemotherapy response, as well as the clinic outcome of patients with gastric cancer. Between May 2011 and May 2013, 263 patients with gastric cancer who were newly diagnosed by histopathology were enrolled in our study. Genotyping of the ERCC1 rs11615 and r.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.16.22
- DOI:
- 10.4238/2015.December.16.22
Analysis of HLA-DQB1 allele polymorphisms in Uyghur women with cervical cancer
Authors: L. Han, S. Husaiyin, L. Wang, K.D. Wusainahong, X. Fu and M. Niyazi
In Uyghur women, mortality rates from cervical cancer are amongst the highest in the nation, and genetic susceptibility probably plays a role in the pathogenesis of the disease. We investigated the correlation between polymorphisms of the HLA-DQB1 allele and cervical cancer in Xinjiang Uyghur women. Cervix tissue samples from 80 cases of cervical cancer a.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.16.25
- DOI:
- 10.4238/2015.December.16.25