Browsing by Subject "Polymorphism, Genetic"
Now showing items 1-20 of 34
-
A functional polymorphism in the 5HTR2C gene associated with stress responses also predicts incident cardiovascular events.
(PLoS One, 2013)Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress ... -
A functional variant at miRNA-122 binding site in IL-1a 3' UTR predicts risk of recurrence in patients with oropharyngeal cancer.
(Oncotarget, 2016-06)IL-1a, an important regulator of immune and inflammation responses, has been implicated in cancer development and prognosis. An insertion (Ins)/deletion (Del) polymorphism (IL-1a rs3783553) in the 3' UTR of IL-1a may disrupt ... -
A population model of folate-mediated one-carbon metabolism.
(Nutrients, 2013-07-05)BACKGROUND: Previous mathematical models for hepatic and tissue one-carbon metabolism have been combined and extended to include a blood plasma compartment. We use this model to study how the concentrations of metabolites ... -
A widespread chromosomal inversion polymorphism contributes to a major life-history transition, local adaptation, and reproductive isolation.
(PLoS Biol, 2010-09-28)The role of chromosomal inversions in adaptation and speciation is controversial. Historically, inversions were thought to contribute to these processes either by directly causing hybrid sterility or by facilitating the ... -
Age, gender, and cancer but not neurodegenerative and cardiovascular diseases strongly modulate systemic effect of the Apolipoprotein E4 allele on lifespan.
(PLoS Genet, 2014-01)Enduring interest in the Apolipoprotein E (ApoE) polymorphism is ensured by its evolutionary-driven uniqueness in humans and its prominent role in geriatrics and gerontology. We use large samples of longitudinally followed ... -
APOL1-G0 protects podocytes in a mouse model of HIV-associated nephropathy.
(PloS one, 2019-01)African polymorphisms in the gene for Apolipoprotein L1 (APOL1) confer a survival advantage against lethal trypanosomiasis but also an increased risk for several chronic kidney diseases (CKD) including HIV-associated nephropathy ... -
Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis.
(Chinese journal of cancer, 2011-04)P21 (CDKN1A), a key cell cycle regulatory protein that governs cell cycle progression from G1 to S phase, can regulate cell proliferation, growth arrest, and apoptosis. The Ser31Arg polymorphism is located in the highly ... -
Association of combined p73 and p53 genetic variants with tumor HPV16-positive oropharyngeal cancer.
(PloS one, 2012-01)p53 and p73 interact with human papillomavirus (HPV) E6 and E7 oncoproteins. The interplay between p53 and p73 and HPV16 may lead to deregulation of cell cycle and apoptosis, through which inflammation/immune responses control ... -
Associations of PI3KR1 and mTOR polymorphisms with esophageal squamous cell carcinoma risk and gene-environment interactions in Eastern Chinese populations.
(Scientific reports, 2015-01)Single nucleotide polymorphisms (SNPs) in the PI3K/PTEN/AKT/mTOR signaling pathway may contribute to carcinogenesis. We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal squamous cell cancer (ESCC) ... -
Beta2-adrenergic receptor gene polymorphisms as systemic determinants of healthy aging in an evolutionary context.
(Mech Ageing Dev, 2010-05)The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adrenergic receptor (ADRB2) gene appears to be associated with a broad range of aging-associated phenotypes, including cancers at different sites, ... -
Correlation between base-excision repair gene polymorphisms and levels of in-vitro BPDE-induced DNA adducts in cultured peripheral blood lymphocytes.
(PloS one, 2012-01)In vitro benzo[a]pyrene diol epoxide (BPDE)-induced DNA adducts in cultured peripheral lymphocytes have been shown to be a phenotypic biomarker of individual's DNA repair phenotype that is associated with cancer risk. In ... -
Deficiency of α-1-antitrypsin influences systemic iron homeostasis.
(Int J Chron Obstruct Pulmon Dis, 2013)There is evidence that proteases and antiproteases participate in the iron homeostasis of cells and living systems. We tested the postulate that α-1 antitrypsin (A1AT) polymorphism and the consequent deficiency ... -
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
(Journal of cardiovascular translational research, 2014-04)Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the hypertrophic cardiomyopathy (HCM) genetic test is limited by a lack of understanding of the background genetic ... -
Effects of polymorphism for locally adapted genes on rates of neutral introgression in structured populations.
(Theoretical population biology, 2011-09)Adaptation to local conditions within demes balanced by migration can maintain polymorphisms for variants that reduce fitness in certain ecological contexts. Here, we address the effects of such polymorphisms on the rate ... -
Erythrocyte invasion profiles are associated with a common invasion ligand polymorphism in Senegalese isolates of Plasmodium falciparum.
(Parasitology, 2009-01)Plasmodium falciparum parasites use multiple ligand-receptor interactions to invade human erythrocytes. Variant expression levels of members of the PfRh and PfEBA ligand families are associated with the use of different ... -
Evaluation of genotype-specific survival using joint analysis of genetic and non-genetic subsamples of longitudinal data.
(Biogerontology, 2011-04)Small sample size of genetic data is often a limiting factor for desirable accuracy of estimated genetic effects on age-specific risks and survival. Longitudinal non-genetic data containing information on survival or disease ... -
Evolutionary effects of contagious and familial transmission.
(Proceedings of the National Academy of Sciences of the United States of America, 1979-01)Two models involving non-Mendelian transmission of a discrete valued trait through within- and across-generation contagion are proposed in an investigation of the joint evolution of phenotype and genotype. A single locus ... -
Functional epialleles at an endogenous human centromere.
(Proc Natl Acad Sci U S A, 2012-08-21)Human centromeres are defined by megabases of homogenous alpha-satellite DNA arrays that are packaged into specialized chromatin marked by the centromeric histone variant, centromeric protein A (CENP-A). Although most human ... -
Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma.
(Cancer Epidemiol Biomarkers Prev, 2015-07)BACKGROUND: The Notch signaling pathway is constitutively activated in human cutaneous melanoma to promote growth and aggressive metastatic potential of primary melanoma cells. Therefore, genetic variants in Notch pathway ... -
Gene Network Polymorphism Illuminates Loss and Retention of Novel RNAi Silencing Components in the Cryptococcus Pathogenic Species Complex.
(PLoS Genet, 2016-03)RNAi is a ubiquitous pathway that serves central functions throughout eukaryotes, including maintenance of genome stability and repression of transposon expression and movement. However, a number of organisms have lost their ...
