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Genetic Polymorphism

Animal Genetics   Research Article

Duplication polymorphisms in exon 4 of �º-casein gene in yak breeds/populations

Authors: S. Pingcuo, J. Gao, Z.R. Jiang, S.Y. Jin, C.Y. Fu, X. Liu, L. Huang and Y.C. Zheng

The objective of this study was to compare 12 bp-duplication polymorphisms in exon 4 of the κ-casein gene among 3 breeds/populations of yak (Bos grunniens). Genomic DNA was extracted from yak blood or muscle samples (N = 211) and a partial sequence of exon 4 of κ-casein gene was amplified by polymerase chain reaction. A polyacrylamide gel elec.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.August.28.8
DOI:
http://dx.doi.org/10.4238/2015.August.28.8
Human Genetics   Research Article

Effects of ABCB1 3435C>T genotype on serum levels of cortisol and aldosterone in women with normal menstrual cycles

Authors: T. Nakamura, N. Okamura, M. Yagi, H. Omatsu, M. Yamamori,A. Kuwahara, K. Nishiguchi, M. Horinouchi, K. Okumura and T. Sakaeda

ABCB1, also known as MDR1/P-glycoprotein, can transport cortisol and aldosterone. We examined the effects of ABCB1 polymorphisms on serum levels of cortisol and aldosterone among different phases of the normal menstrual cycle in 51 non-pregnant healthy Japanese female volunteers (22 ± 1 years old). The menstrual cycle w.. Read More»

Genet. Mol. Res. 8(2):
vol8-2gmr574
DOI:
10.4238/vol8-2gmr574
Human Genetics   Research Article

Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase and breast cancer chemotherapy response

Authors: L. Yang, X.W. Wang, L.P. Zhu, H.L. Wang, B. Wang, T. Wu, Q. Zhao, D.L.X.T. JinSiHan and X.Y. Wang

Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorph.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038679
DOI:
10.4238/gmr.15038679
Human Genetics   Research Article

Matrix metalloproteinase-3 gene polymorphism and its mRNA expression in rheumatoid arthritis

Authors: M.J. Ma, H.C. Liu, X.Q. Qu, J.L. Wang

Matrix metalloproteinase-3 (MMP-3) can mediate the occurrence and development of rheumatoid arthritis (RA). The MMP3 promoter gene exhibits polymorphism with 5A/6A alleles. We investigated the correlation between the expression of MMP3 gene polymorphism and RA to provide an objective basis for prognosis evaluation. We enrolled.. Read More»

Genet. Mol. Res. 14(4):
2015.December.1.17
DOI:
10.4238/2015.December.1.17
Medical Genetics   Research Article

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

Authors: L. Dong, M. Mao, R. Luo, Y. Tong and D. Yu

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycopro.. Read More»

Genet. Mol. Res. 10(4):
2001.October.19.3
DOI:
10.4238/2001.October.19.3
Human Genetics   Research Article

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

Authors: S.C. Soares1,4, K. Ab�©-Sandes5,6, V.B. Nascimento Filho4, F.M.F. Nunes2 and W.A. Silva Jr.2,3

The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)- and P. falciparum (Pf)-infected patients, and 21 healthy individuals a.. Read More»

Genet. Mol. Res. 7(4):
vol7-4gmr439
DOI:
10.4238/vol7-4gmr439
Human Genetics   Research Article

Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer

Authors: H. Yang, G. Li and W.F. Li

We conducted a hospital-based case-control study to evaluate the association between polymorphisms in excision repair cross-complementing group 1-xeroderma pigmentosum group F (ERCC1-XPF) variants and the risk of colorectal cancer in a Chinese population. Genotyping of the ERCC1 rs2298881 and rs11615 and XPF rs2276466 polymorphisms were detected by polymeras.. Read More»

Genet. Mol. Res. 14(1):
2015.January.30.13
DOI:
10.4238/2015.January.30.13
Human Genetics   Research Article

Meta-analysis of epidemiological studies demonstrates significant association of PTGS2 polymorphism rs689470 and no significant association of rs20417 with prostate cancer

Authors: H.-T. Zhang, Y. Xu, Z.-H. Zhang and L. Li

Evidence is accumulating that chronic inflammation has an important role in prostate cancer. Two common polymorphisms in the prostaglandin-endoperoxide synthase 2 (PTGS2) gene, rs20417 and rs689470, have been found to alter the risk for prostate cancer, but the various studies are not in agreement. To derive a more precise est.. Read More»

Genet. Mol. Res. 11(2):
2012.June.15.13
DOI:
10.4238/2012.June.15.13
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):
Cytogenomics   Research Article

Role of CASP-10 gene polymorphisms in cancer susceptibility: a HuGE review and meta-analysis

Authors: S. Yan Y.Z. Li J.W. Zhu C.L. Liu P. Wang Y.L. Liu

We investigated a possible association between CASP-10 gene polymorphisms and susceptibility to cancer through a meta-analysis. Eight studies with a total of 29,936 cancer cases and 34,041 healthy controls were included. Meta-analysis results showed that the rs13006529*T carrier was significantly associated with increased cancer risk (OR = 1.17, 95%CI = 1.01.. Read More»

Genet. Mol. Res. 11(4):
2012.November.26.1
DOI:
10.4238/2012.November.26.1