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Haplotype

Human Genetics   Research Article

Association of eNOS gene polymorphisms with essential hypertension in the Han population in southwestern China

Authors: J. Li, Y. Cun, W.R. Tang, Y. Wang, S.N. Li, H.R. Ouyang, Y.R. Wu, H.J. Yu and C.J. Xiao

Endothelial nitric oxide synthase (eNOS) plays an important role in maintaining blood pressure homeostasis and vascular integrity. Polymorphisms in the eNOS gene have been found to be associated with hypertension in different human populations, including Northern and Southern Chinese Han populations. To examine the relationshi.. Read More»

Genet. Mol. Res. 10(3):
vol10-3gmr1160
DOI:
10.4238/vol10-3gmr1160
Human Genetics   Research Article

Frequency distribution of interleukin-10 haplotypes (-1082 A>G, -819 C>T, and-592 C>A) in a Mexican population

Authors: M. V�¡zquez-Villamar, C.A. Palafox-S�¡nchez, J. Hern�¡ndez-Bello,J.F. Mu�±oz-Valle, Y. Valle, A. Cruz, A.I. Alatorre-Meza and E. Oregon-Romero

Interleukin 10 (IL-10) is an immunoregulatory cytokine with multiple roles in the immune system. Three single nucleotide polymorphisms at positions -1082 (A>G), -819 (C>T), and -592 (C>A) in the promoter region of the IL10 gene are believed to be associated with different inflammatory, infectious, and autoimmune disea.. Read More»

Genet. Mol. Res. 15(4):
gmr15048411
DOI:
10.4238/gmr15048411
Human Genetics   Research Article

Aberrant DNA methylation of the P16, MGMT, and hMLH1 genes in combination with the methylenetetrahydrofolate reductase C677T genetic polymorphism and folate intake in gastric cancer

Authors: J. Lin, R.M. Zeng, R.N. Li and W.H. Cao

Epidemiological studies have indicated that folate metabolism is correlated with increased risk of gastric cancer. Since methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, in this study, we examined whether polymorphisms and haplotypes of MTHFR are correlated with the risk of gast.. Read More»

Genet. Mol. Res. 13(1):
2014.March.24.10
DOI:
10.4238/2014.March.24.10
Human Genetics   Research Article

Genetic polymorphism at the KIR gene locus: determination of gene, genotype, and haplotype frequencies in the Xinjiang Han population

Authors: G.-Y. Lin, B. Yu, W.-J. Hu, Y.-Z. Zhang, X.-J. Zuo and Y.-B. Wang

The aim of this study was to explore the genetic polymorphism, genotype, and haplotype characteristics of the KIR locus in the Xinjiang Han population in order to establish a foundation for future analysis of the relationship between KIR genes and disease. KIR genes were detected by sequence-specific primer-polymerase chain reaction in 184 randomly select.. Read More»

Genet. Mol. Res. 14(2):
2015.June.9.7
DOI:
10.4238/2015.June.9.7
Cytogenomics   Research Article

IL-10 promoter SNPs and susceptibility to leprosy in ethnic groups from southwest China

Authors: X.H. Chen, J.H. Xiong, Y. Ning, Y. Wen, J. Liu, C. Mao, X.M. Weng and J.C. Gu

The purpose of this study was to determine whether interleukin-10 (IL-10) promoter polymorphisms are associated with leprosy or their subtypes in ethnic groups from southwest China. Genotyping using TaqMan® SNP Genotyping Master Mix and ABI 7500 real-time PCR system was performed for IL-10 T3575A, G2849A, C2763A, A1082G, C.. Read More»

Genet. Mol. Res. 12(3):
2013.August.12.3
DOI:
10.4238/2013.August.12.3
Human Genetics   Research Article

Polymorphisms and allele frequencies of glutathione S-transferases A1 and P1 genes in the Polish population

Authors: M. Skrzypczak-Zielinska, O. Zakerska-Banaszak, B. Tamowicz,I. Sobieraj, N. Drweska-Matelska, M. Szalata, R. Slomski and A. Mikstacki

Glutathione S-transferases (GST) A1 and P1 are crucial enzymes involved in the biotransformation of drugs, carcinogens, and toxins, and their activity may influence drug response, susceptibility to diseases, and carcinogenesis. The genes encoding these enzymes, GSTA1 and GSTP1, have been examined in many studies because of their genetic variability, which.. Read More»

Genet. Mol. Res. 14(1):
2015.March.31.15
DOI:
10.4238/2015.March.31.15
Cytogenomics   Short communication

Association of APOA1 and APOA5 polymorphisms and haplotypes with lipid parameters in a Brazilian elderly cohort

Authors: T.K. Furuya, E.S. Chen, V.K. Ota, D.R. Mazzotti, L.R. Ramos, M.S. Cendoroglo, L.Q. Araujo, R.R. Burbano and M.A.C. Smith

Apolipoproteins have an important role in lipid metabolism and transport. Polymorphisms in the APOA1/C3/A4/A5 gene cluster have been associated with lipid alterations and cardiovascular diseases. We investigated APOA1 XmnI, APOA5 S19W, and APOA5 -1131T>C polymorphisms in 377 individuals from a cohort of a longitudinal Brazilian elderly study. Allele fr.. Read More»

Genet. Mol. Res. 12(3):
2013.February.28.7
DOI:
10.4238/2013.February.28.7
Human Genetics   Research Article

Genetic polymorphisms and haplotype of hormone-related genes are associated with the risk of breast cancer in Chinese women

Authors: Z. Pan, Z. Fu, Q. Song, W. Cao, W. Cheng and X. Xu

Sex hormones play important roles in breast cancer (BC) development. This study investigated associations between BC risk and hormone-related gene variants in Chinese women. In a cohort of 336 patients with histopathologically confirmed BC and 390 age-matched controls, we genotyped seven single nucleotide polymorphisms (SNPs) .. Read More»

Genet. Mol. Res. 15(2):
gmr.15028640
DOI:
10.4238/gmr.15028640
Microbial Genetics   Research Article

Impacts of single nucleotide polymorphisms and haplotypes in the bovine Dapper1 gene on body weight

Authors: J. Wang, C. Wang, Y. Gao, X.-Y. Lan, C.-Z. Lei, J.-Q. Wang and H. Chen

The Dapper1 protein plays important role in multiple developmental processes via negative modulation of the Wnt signaling pathway. We detected variations in Dapper1 in 1185 individuals from 5 Chinese cattle breeds and determined their effects on bovine body weight. Two silent mutations (g.8344C>T and g.8428C>T) in exon 6 along with two substitutions.. Read More»

Genet. Mol. Res. 12(2):
2013.April.17.4
DOI:
10.4238/2013.April.17.4
Microbial Genetics   Research Article

Prevalence of CYP2B6 polymorphisms in Argentinians: the role of genetic testing

Authors: P. Scibona, C. Vazquez, A.R. Cajal, P.F. Argibay and W.H. Belloso

CYP2B6 is a highly polymorphic isoenzyme involved in the metabolism of many drugs including cyclophosphamide, bupropion, and efavirenz. A single nucleotide polymorphism (SNP) in CYP2B6 (516G>T) resulted in decreased expression and function associated with the CYP2B6*6 haplotype. Among the clinical implications of this phenotype, decreased activation of.. Read More»

Genet. Mol. Res. 14(4):
2015.December.11.6
DOI:
10.4238/2015.December.11.6