Browsing by Subject "Genetic Association Studies"
Now showing items 1-20 of 26
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A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population.
(Scientific reports, 2016-01-28)AKT is an important signal transduction protein that plays a crucial role in cancer development. Therefore, we evaluated associations between single nucleotide polymorphisms (SNPs) in the AKT promoter region and gastric ... -
Apoptotic variants as predictors of risk of oropharyngeal cancer recurrence after definitive radiotherapy.
(Int J Cancer, 2015-11-15)Single nucleotide polymorphisms (SNPs) in the promoter region of FAS and FASLG may alter their transcriptional activity. Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G>A, rs2234767; ... -
Associations of genotypes and haplotypes of IL-17 with risk of gastric cancer in an eastern Chinese population.
(Oncotarget, 2016-12)Interleukin-17 plays a crucial role in inflammation-related carcinogenesis. We hypothesize that genetic variants in IL-17 are associated with gastric cancer (GCa) risk, and we genotyped five potentially functional single ... -
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) ... -
Bayesian Model Uncertainty and Prior Choice with Applications to Genetic Association Studies
(2010)The Bayesian approach to model selection allows for uncertainty in both model specific parameters and in the models themselves. Much of the recent Bayesian model uncertainty literature has focused on defining these prior ... -
Behavior genetics and postgenomics.
(Behav Brain Sci, 2012-10)The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome ... -
CASP7 variants modify susceptibility to cervical cancer in Chinese women.
(Scientific reports, 2015-01)Polymorphisms in Caspase-7 (CASP7) may modulate the programmed cell death and thus contribute to cervical cancer risk. In this case-control study of 1,486 cervical cancer cases and 1,301 controls, we investigated associations ... -
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 ... -
Detecting local haplotype sharing and haplotype association.
(Genetics, 2014-07)A novel haplotype association method is presented, and its power is demonstrated. Relying on a statistical model for linkage disequilibrium (LD), the method first infers ancestral haplotypes and their loadings at each marker ... -
Factors affecting pitch discrimination performance in a cohort of extensively phenotyped healthy volunteers.
(Scientific reports, 2017-11-28)Despite efforts to characterize the different aspects of musical abilities in humans, many elements of this complex area remain unknown. Musical abilities are known to be associated with factors like intelligence, training, ... -
Finding our way through phenotypes.
(PLoS Biol, 2015-01)Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable ... -
Functional annotation signatures of disease susceptibility loci improve SNP association analysis.
(BMC Genomics, 2014-05-24)BACKGROUND: Genetic association studies are conducted to discover genetic loci that contribute to an inherited trait, identify the variants behind these associations and ascertain their functional role in determining the ... -
Functional variant of MTOR rs2536 and survival of Chinese gastric cancer patients.
(International journal of cancer, 2019-01)We previously reported that some single nucleotide polymorphisms (SNPs) of candidate genes involved in the MTOR complex1 (MTORC1) were associated with risk of gastric cancer (GCa). In the present study, we further evaluated ... -
Generalized admixture mapping for complex traits.
(G3 (Bethesda), 2013-07-08)Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing ... -
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
(Molecular autism, 2016-01)BACKGROUND:Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. In order to better understand potential genetic divergence underlying this variable risk, we studied ... -
Genetic variants of DNA repair genes predict the survival of patients with esophageal squamous cell cancer receiving platinum-based adjuvant chemotherapy.
(Journal of translational medicine, 2016-05-31)Adjuvant chemotherapy in patients with resected esophageal squamous cell cancer (ESCC) remains controversial for its uncertain role in improving overall survival (OS). Nucleotide excision repair (NER) removes DNA-adducts ... -
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
(Circulation. Arrhythmia and electrophysiology, 2017-04)BACKGROUND:The rapid expansion of genetic testing has led to increased utilization of clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being faced with assessing risk of disease vulnerability ... -
Novel associations of UDP-glucuronosyltransferase 2B gene variants with prostate cancer risk in a multiethnic study.
(BMC Cancer, 2013-11-22)BACKGROUND: We have previously shown that a functional polymorphism of the UGT2B15 gene (rs1902023) was associated with increased risk of prostate cancer (PC). Novel functional polymorphisms of the UGT2B17 and UGT2B15 genes ... -
permGPU: Using graphics processing units in RNA microarray association studies.
(BMC Bioinformatics, 2010-06-16)BACKGROUND: Many analyses of microarray association studies involve permutation, bootstrap resampling and cross-validation, that are ideally formulated as embarrassingly parallel computing problems. Given that these analyses ... -
Polymorphisms in Fibronectin Binding Proteins A and B among Staphylococcus aureus Bloodstream Isolates Are Not Associated with Arthroplasty Infection.
(PLoS One, 2015)BACKGROUND: Nonsynonymous single nucleotide polymorphisms (SNPs) in fibronectin binding protein A (fnbA) of Staphylococcus aureus are associated with cardiac device infections. However, the role of fnbA SNPs in S. aureus ...
