Polymorphism
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity
Authors: B. Paolini, P.E. Maltese, I. Del Ciondolo, D. Tavian, S. Missaglia, C. Ciuoli, M. Zuntini, S. Cecchin, M. Bertelli and G. Pompucci
Obesity is a major public health concern; despite evidence of high heritability, the genetic causes of obesity remain unclear. In this study, we assessed the presence of mutations in three genes involved in the hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 receptor, MC4R), which is important fo.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038718
- DOI:
- 10.4238/gmr.15038718
Role of IL-8 gene polymorphisms in glioma development in a Chinese population
Authors: J.W. Fu, K.W. Wang and S.T. Qi
This case-control study aimed to investigate the role of -251 T>A (rs4073) and -781 C>T (rs2227306) polymorphisms in the interleukin-8 (IL-8) gene in the development of glioma in a Chinese population. One hundred and twenty-seven glioma patients and 284 healthy control subjects were recruited to this study between February 2013 and December 2014. Th.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038127
- DOI:
- 10.4238/gmr.15038127
Association between a non-synonymous HSD17B4 single nucleotide polymorphism and meat-quality traits in Berkshire pigs
Authors: J.L. Jo, J.H. Hwang, S.G. Kwon, D.H. Park, T.W. Kim, D.G. Kang, G.E. Yu, I.S. Kim, J. Ha and C.W. Kim
Single nucleotide polymorphisms (SNPs) are useful genetic markers that allow correlation of genetic sequences with phenotypic traits. It is shown here that HSD17B4, a bifunctional enzyme mediating dehydrogenation and anhydration during β-oxidation of long-chain fatty acids, contains a non-synonymous SNP (nsSNP) of chr2:12.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048970
- DOI:
- 10.4238/gmr15048970
Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis
Authors: R.P. Luciano, M. Wajchenberg, S.S. Almeida, C.E.N. Amorim, L.M.R. Rodrigues, R.C. Araujo, E.B. Puertas and F. Faloppa
The etiology of adolescent idiopathic scoliosis remains unknown. Angiotensin-converting enzyme and α-actinin-3 polymorphisms influence the characteristics of muscle fibers. The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and &alph.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048959
- DOI:
- 10.4238/gmr15048959
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
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
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