Human Genetics
Male idiopathic infertility and the TP53 polymorphism in codon 72
Authors: M.P. de Morais, R.F. Curado, K.S.F. e Silva, K.K.V.O. Moura and J.T. Arruda
Many environmental agents affect the development of male germ cells at different stages. Apoptosis is common during normal spermatogenesis; it plays an important role in controlling the number of germ cells and the disposal of defective stem cells to produce functional sperm. The presence of p53 in primary spermatocytes sugges.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048882
- DOI:
- 10.4238/gmr15048882
Role of interleukin-4 genetic polymorphisms and environmental factors in the risk of asthma in children
Authors: L. Li, Y. Li, X.C. Zeng, J. Li and X.Y. Du
Asthma is an allergic disease characterized by hyperresponsiveness and chronic inflammation of the airway. The interleukin-4 (IL-4) gene and its single nucleotide polymorphisms are associated with asthma susceptibility in children. A case-control study was performed to evaluate the relationship between asthma risk and the IL-4.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048873
- DOI:
- 10.4238/gmr15048873
Association of genetic variations in miR-146a rs2910164 and miR-149 rs11614913 with the development of classic Kaposi sarcoma
Authors: H. Yang, Q.L. Lu, X.J. Wu, H.Y. Ma, Y.Y. Qu, D.Z. Zhang and X.M. Pu
Classic Kaposi sarcoma is a type of vascular proliferative inflammatory disease. Previous studies have reported significant associations between microRNAs expression and the development of classic Kaposi sarcoma. Here, we conducted a case-control study to investigate the association between miR-146a and miR-149 genetic polymor.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048855
- DOI:
- 10.4238/gmr15048855
NJ cluster analysis of the SnRK2, PYR/PYL/RCAR, and ABF genes in Tibetan hulless barley
Authors: H.J. Yuan, Y.L. Wang, Z.X. Wei, Q.J. Xu, X.Q. Zeng, Y.W. Tang and T.S. Nyima
The abscisic acid (ABA) signaling pathway is known as one of the most important signaling pathways in plants and is mediated by multiple regulators. The genes SnRK2, PYR/PYL/RCAR, and ABF are relevant to both ABA-dependent and -independent signaling pathways. To elucidate the profile of these genes from Tibetan hulless barley .. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048813
- DOI:
- 10.4238/gmr15048813
Correlation between gene polymorphisms of CYP1A1, GSTP1, ERCC2, XRCC1, and XRCC3 and susceptibility to lung cancer
Authors: H.X. Liu, J. Li and B.G. Ye
Lung cancer is a common malignant tumor that is characterized by high morbidity and poor prognosis. Studies suggest that an individual’s genetic background affects the risk of developing lung cancer. Therefore, we investigated the relationship between gene polymorphisms and susceptibility to lung cancer. We recruited 308.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048813
- DOI:
- 10.4238/gmr15048813
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population
Authors: X.L. Zhao, Y.J. Wang, Y.L. Wu, W.H. Han
Talipes equinovarus is a common congenital deformity. COL9A1 polymorphisms are associated with the development of articular cartilage-related diseases. In the current study, we evaluated the relationship between COL9A1 rs1135056, rs35470562, and rs592121 genetic polymorphisms and risk of congenital talipes equinovarus. Between.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048773
- DOI:
- 10.4238/gmr15048773
Polymorphisms in ADAMTS4 and ADAMTS5 are not linked to susceptibility to knee osteoarthritis in the Turkish population
Authors: U. Canbek, A. Imerci, M. Kara, U. Akgun, T.D. Canbek and N.H. Aydogan
Considering the functions of aggrecanase-1 (ADAMTS4) and -2 (ADAMTS5), which are thought to be the two major enzymes responsible for the destruction of aggrecans in arthritic diseases, we investigated whether important polymorphisms in the ADAMTS4 and ADAMTS5 genes affect osteoarthritis (OA) susceptibility. Our study took place in Mugla, Turkey. Ninety-fi.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038264
- DOI:
- 10.4238/gmr.15038264
Association of DNMT1 and DNMT3B polymorphisms with breast cancer risk in Han Chinese women from South China
Authors: M.-Y. Sun X.-X. Yang W.-W. Xu G.-Y. Yao H.-Z. Pan M. Li
Patterns of DNA methylation are established and maintained by a family of DNA methyltransferases (DNMTs). Aberrant promoter DNA methylation of tumor suppressor genes is found in breast cancer. Association studies between DNMT gene polymorphisms and breast cancer in various populations have reported inconsistent results. This study assessed the associations o.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.September.26.1
- DOI:
- 10.4238/2012.September.26.1
Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population
Authors: Q. Pan Y. Ning L.Z. Chen S. Zhang Z.Z. Liu X.X. Yang W. Wei H. Wei Q.G. Li H.N. Yue J.X. Wang
Polymorphisms of the major histocompatibility complex (MHC) have been linked to many diseases, especially autoimmune disorders. Previous studies have shown that genetic variants in MHC class III are associated with breast cancer. To determine if there is an association between MHC class III and breast cancer risk in the Chinese Han population, we carried .. Read More»
- Genet. Mol. Res. 11(4):
- 2012.September.17.1
- DOI:
- 10.4238/2012.September.17.1
Association of HLA-DRB alleles and pulmonary tuberculosis in North Chinese patients
Authors: G.L. Shi, X.L. Hu, L. Yang, C.L. Rong, Y.L. Guo and C.X. Song
Human leukocyte antigen (HLA) plays a central role in the regulation of the immune response. HLA class II molecules are essential for T cell-mediated adaptive immunity and present peptide antigens to CD4+ T cells. Because of its important role in the immune response and its high degree of polymorphism, the HLA system is associ.. Read More»
- Genet. Mol. Res. 10(3):
- vol10-3gmr1132
- DOI:
- 10.4238/vol10-3gmr1132