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Polymorphism

Human Genetics   Research Article

Association between RsaI polymorphism in estrogen receptor �² gene and male infertility

Authors: B.M. Bordin and K.K.V.O. Moura

The estrogen receptor β (ERβ) gene plays an important role in the regulation of fertility in both males and females. The RsaI polymorphism in ERβ is associated with male infertility in Caucasian patients. The aim of this study was to investigate the frequency of this polymorphism in the etiology of idiopathic male infertility and its correl.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.21.7
DOI:
http://dx.doi.org/10.4238/2015.September.21.7
Human Genetics   Research Article

Polymorphisms and DNA methylation of gene TP53 associated with extra-axial brain tumors

Authors: L.O. Almeida A.C. Cust�³dio G.R. Pinto M.J. Santos J.R.W. Almeida C.A. Clara J.A. Rey C. Casartelli

The p53 tumor suppressor gene is the most frequently mutated gene in human cancer; this gene is mutated in up to 50% of human tumors. It has a critical role in the cell cycle, apoptosis and cell senescence, and it participates in many crucial physiological and pathological processes. Polymorphisms of p53 have been suggested to.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr518
DOI:
10.4238/vol8-1gmr518
Human Genetics   Research Article

Association between ERCC1 and ERCC2 polymorphisms and breast cancer risk in a Chinese population

Authors: R. Zhao and M.F. Ying

We conducted a case-control study to investigate the role of ERCC1 rs3212986 and ERCC2 rs13181 gene polymorphisms in the development of breast cancer. Between March 2012 and March 2014, a total of 242 newly diagnosed breast cancer patients with histopathologically confirmed primary breast cancer and 242 healthy controls were recruited. Genotyping of ERCC1.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017263
DOI:
10.4238/gmr.15017263
Human Genetics   Research Article

Relationship between vitamin D (1,25-dihydroxyvitamin D3) receptor gene polymorphisms and primary biliary cirrhosis risk: a meta-analysis

Authors: F. Fang, J. Wang, J. Pan, G.H. Su, L.X. Xu and G. Li

The vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR) gene encodes a protein that functions in the transcriptional regulation of vitamin D-responsive genes and plays a role in innate immunity and adaptive immune responses. In this study, we investigated the relationship between VDR polymorphisms (BsmI, ApaI, and TaqI) and primary biliary cirrhosis (PBC).. Read More»

Genet. Mol. Res. 14(1):
2015.February.6.1
DOI:
10.4238/2015.February.6.1
Human Genetics   Research Article

Association between V4 polymorphism in the ADAM33 gene and asthma risk: a meta-analysis

Authors: W. Zheng, L. Wang, X. Su and X.F. Hu

In this study, we evaluated the associations between the V4 (rs2787094 G>C) polymorphism in a disintegrin and metalloproteinase domain 33 (ADAM33) gene and asthma risk. We searched Web of Science, PubMed, Google Scholar, EBSCO, Cochrane Library, and CBM databases from inception through August 2013, without language restrictions. Meta-analysis was perfo.. Read More»

Genet. Mol. Res. 14(1):
2015.February.6.2
DOI:
10.4238/2015.February.6.2
Human Genetics   Research Article

Genetic diversity in somatic mutants of grape (Vitis vinifera) cultivar Italia based on random amplified polymorphic DNA

Authors: S.H.Z. Maia C.A. Mangolin S.A.O. Collet M.F.P.S. Machado

Random amplified polymorphic DNA (RAPD) markers were used to detect polymorphism and to examine relationships among four table grape clones from northwestern Paraná, in southern Brazil. The 10 primers used for RAPD fingerprints generated 126 reproducible fragments, of which 63, 68, 76, and 72 were polymorphic in cultiva.. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr536
DOI:
10.4238/vol8-1gmr536
Human Genetics   Research Article

Single nucleotide polymorphisms in Brahman steers and their association with carcass and tenderness traits

Authors: T. Smith M.G. Thomas T.D. Bidner J.C. Paschal D.E. Franke

Data from purebred Brahman steers (N = 467) were used to study the association of single nucleotide polymorphisms (SNP) with carcass traits and measures of tenderness. Fall weaned calves were grazed and fed in a subtropical environment and then harvested for processing in a commercial facility. Carcass data were recorded 24 h .. Read More»

Genet. Mol. Res. 8(1):
vol8-1gmr537
DOI:
10.4238/vol8-1gmr537
Human Genetics   Research Article

LEPR p.Q223R, �²3-AR p.W64R and LEP c.-2548G>A gene variants in obese Brazilian subjects

Authors: Duarte SFP, Francischetti EA, Genelhu VA, Cabello PH and Pimentel MMG

Obesity is due to the combined effects of genes, environment, lifestyle, and the interactions of these factors. The adrenergic receptor β3 (β3-AR), leptin (LEP) and leptin receptor (LEPR) genes have been intensively evaluated in the search of variants that could be related to obesity and its cardiometabolic complicat.. Read More»

Genet. Mol. Res. 6(4):
Human Genetics   Research Article

COL1A1 gene -1997G/T polymorphism and risk of osteoporosis in postmenopausal women: a meta-analysis

Authors: K.H. Yu, J. Tang, C.Q. Dai, Y. Yu and J.J. Hong

Studies investigating the association between the COL1A1 gene -1997G/T polymorphism and the risk of osteoporosis in postmenopausal women have reported conflicting results. We performed a meta-analysis based on the evidence currently available from the literature to make a more precise estimation of this relationship. We conducted searches of the published.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.21.11
DOI:
http://dx.doi.org/10.4238/2015.September.21.11
Medical Genetics   Research Article

Association of interleukin-8 gene polymorphisms in HIV patients with opportunistic infections in Limpopo Province, South Africa

Authors: G.A. Dzhivhuho1, T.C. Nangammbi2 and A. Samie3

Opportunistic infections (OIs) are common among human immunodeficiency virus (HIV) patients; however, genetic susceptibility to these infections has not been studied. Recent studies have shown that interleukin-8 (IL-8) A/T genotype carriers are more susceptible to a variety of diseases. In this study, we showed the effects of IL-8 gene polymorphisms on OI.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017466
DOI:
10.4238/gmr.15017466